|
MSH6 negative
|
endometrial carcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
|
MSH6 negative
|
oral cavity cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic oral cavity cancer (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Idelalisib
|
Guideline |
Actionable |
Zydelig (idelalisib) is included in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
FLT3 exon22
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
FLT3 exon21
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
FGFR3 fusion
|
maxillary sinus cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with maxillary sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
subependymal giant cell astrocytoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines (category 2B) for patients with recurrent or progressive circumscribed glioma, including subependymal giant cell astrocytoma, harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
gallbladder cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as primary and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring an NTRK fusion, including gallbladder cancer (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
esophagus adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
TP53 mutant
|
skin melanoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline TP53 mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org).
|
detail...
|
|
MSH6 negative
|
appendix adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
JAK2 rearrange
|
myeloid neoplasm
|
sensitive
|
Ruxolitinib
|
Guideline |
Actionable |
Jakafi (ruxolitinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a JAK2 rearrangement (NCCN.org).
|
detail...
|
|
ABL1 rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
ABL1 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
TP53 mutations are associated with poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
RET fusion
|
gallbladder cancer
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as primary (category 2B) and subsequent-line therapy (category 2B) for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including gallbladder cancer (NCCN.org).
|
detail...
|
|
NRAS G12X
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
NRAS G12X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
|
MLH1 negative
|
cervical cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with cervical cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR1 fusion
|
maxillary sinus cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with maxillary sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
FGFR1 fusion
|
oropharynx cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oropharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Decitabine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Acalabrutinib
|
Guideline |
Actionable |
Calquence (acalabrutinib) is included in the guidelines as first-line (category 2A) and second-line or subsequent therapy (category 1) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
|
KIT act mut
|
gastrointestinal stromal tumor
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
KIT activating mutations aid the diagnosis of gastrointestinal stromal tumor (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
MLH1 mutant
|
ovarian cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Imbruvica (ibrutinib) is included in guidelines as first-line (category 2A) and second-line or subsequent therapy (category 2B) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
|
BRAF V600E
|
stomach cancer
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
ALK fusion
|
Erdheim-Chester disease
|
sensitive
|
Alectinib
|
Guideline |
Actionable |
Alecensa (alectinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Decitabine + Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) in combination with Dacogen (decitabine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
ALK rearrange
|
inflammatory myofibroblastic tumor
|
sensitive
|
Ceritinib
|
Guideline |
Actionable |
Zykadia (ceritinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).
|
detail...
|
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Avelumab
|
Guideline |
Actionable |
Bavencio (avelumab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, MLH1, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Binimetinib + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Mektovi (binimetinib) is included in guidelines as first-line and second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org).
|
detail...
30959471
|
|
NTRK2 fusion
|
extrahepatic bile duct carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as primary and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring an NTRK fusion, including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
papillary thyroid carcinoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines for patients with RAI-refractory papillary thyroid carcinoma harboring BRAF V600E for whom clinical trials or other systemic therapies are not available or appropriate (category 2B) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
osteosarcoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in TP53 result in Li-Fraumeni syndrome, which is associated with increased risk of developing osteosarcoma (NCCN.org).
|
detail...
|
|
FLT3 exon17
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
hepatocellular carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) hepatocellular carcinoma (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Decitabine + Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) in combination with Dacogen (decitabine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
ABL1 rearrange
|
myeloid neoplasm
|
sensitive
|
Nilotinib
|
Guideline |
Actionable |
Tasigna (nilotinib) is included in guidelines as a preferred regimen for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an ABL1 rearrangement (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
papillary thyroid carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with RAI-refractory papillary thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
RET fusion
|
pancreatic adenocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as first-line therapy for pancreatic adenocarcinoma patients harboring RET fusions with locally advanced or metastatic disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), as first-line therapy for patients with metastatic diesease with poor PS (ECOG 3), and as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease with good PS (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
anaplastic thyroid carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as neoadjuvant treatment for anaplastic thyroid carcinoma patients harboring NTRK fusions with stage IVa or IVb borderline resectable disease, and as a preferred systemic therapy for those with metastatic disease (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
|
RET fusion
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as primary (category 2B) and subsequent-line therapy (category 2B) for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
ALK rearrange
|
anaplastic large cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
ALK rearrangement aids in the diagnosis of anaplastic large cell lymphoma (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
acute myeloid leukemia
|
sensitive
|
Decitabine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).
|
detail...
|
|
BRAF V600E
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with squamous cell carcinoma of unknown primary harboring BRAF V600E (NCCN.org).
|
detail...
|
|
BRAF rearrange
|
pilocytic astrocytoma
|
sensitive
|
Tovorafenib
|
Guideline |
Actionable |
Ojemda (tovorafenib) is included in guidelines (category 2A) for patients with recurrent or progressive circumscribed glioma, including pilocytic astrocytoma, harboring BRAF fusions, rearrangements, or BRAF V600 mutations (NCCN.org).
|
detail...
|
|
ROS1 fusion
|
lung non-small cell carcinoma
|
sensitive
|
Zidesamtinib
|
Guideline |
Actionable |
Jideytro (zidesamtinib) is included in guidelines as subsequent therapy (category 2A) for patients with advanced or metastatic non-small lung cancer harboring a ROS1 fusion (NCCN.org).
|
detail...
|
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Nivolumab
|
Guideline |
Actionable |
Monotherapy with immune checkpoint inhibitors, including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab), is not indicated for use as initial systemic therapy or subsequent therapy in non-small cell lung cancer patients harboring oncogenic drivers, including ALK rearrangement (NCCN.org).
|
detail...
|
|
RET fusion
|
papillary thyroid carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines for patients with RAI-refractory papillary thyroid carcinoma harboring a RET fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Alemtuzumab + Rituximab
|
Guideline |
Actionable |
Campath (alemtuzumab) combined with Rituxan (rituximab) is included in guidelines as therapy for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
myelodysplastic syndrome
|
sensitive
|
Azacitidine + Olutasidenib
|
Guideline |
Actionable |
Rezlidhia (olutasidenib) in combination with Vidaza (azacitidine) is included in guidelines (category 2B) for patients with higher-risk myelodysplastic syndrome harboring an IDH1 mutation (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
hepatocellular carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as subsequent-line therapy for patients with hepatocellular carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
FLT3 exon19
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
pancreatic adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as first-line therapy for pancreatic adenocarcinoma patients harboring an NTRK fusion with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), as first-line therapy for patients with metastatic disease with good, intermediate, or poor (ECOG 3) PS, as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease with good, intermediate, or poor PS (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
vulva adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic vulvar adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NRAS exon4
|
colon cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab) is not indicated for use in colon cancer patients with NRAS exon 4 mutations (NCCN.org).
|
detail...
|
|
BRAF V600E
|
anaplastic astrocytoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic astrocytoma (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with squamous cell carcinoma of unknown primary harboring NTRK2 fusions (NCCN.org).
|
detail...
|
|
BRAF V600E
|
neuroendocrine tumor
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) and Tafinlar (dabrafenib) combination therapy is included in guidelines for patients with unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms harboring BRAF V600E who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
|
BRAF V600E
|
lung non-small cell carcinoma
|
sensitive
|
Binimetinib + Encorafenib
|
Guideline |
Actionable |
Combination of Braftovi (encorafenib) and Mektovi (binimetinib) is included in guidelines as a first-line or subsequent therapy for advanced or metastatic non-small cell lung cancer patients harboring BRAF V600E mutations (NCCN.org).
|
detail...
|
|
FGFR3 fusion
|
glottis cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with glottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
low grade glioma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with recurrent or progressive low grade glioma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
FLT3 exon23
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
ABL1 rearrange
|
myeloid neoplasm
|
sensitive
|
Ponatinib
|
Guideline |
Actionable |
Iclusig (ponatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an ABL1 rearrangement (NCCN.org).
|
detail...
|
|
BRAF V600E
|
rectum cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab), as a monotherapy, is not indicated for use in rectum cancer patients with BRAF V600E (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Retifanlimab
|
Guideline |
Actionable |
Zynyz (retifanlimab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
RET fusion
|
esophagus adenocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic esophageal adenocarcinoma harboring RET fusions (NCCN.org).
|
detail...
|
|
ALK rearrange
|
inflammatory myofibroblastic tumor
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).
|
detail...
|
|
MLH1 negative
|
pancreatic adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) with good (ECOG 0-1), intermediate (ECOG 2) (category 2A), or poor (ECOG 3) (category 2B) performance status who have not received prior immunotherapy (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH1 mutations are associated with a favorable prognosis in patients with glioma, and are associated with a survival benefit for patients treated with radiation or alkylator therapy (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
maxillary sinus cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with maxillary sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Atezolizumab + Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) plus Cotellic (cobimetinib) in combination with an immune checkpoint inhibitor, such as Tecentriq (atezolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation, such as BRAF V600E (NCCN.org).
|
detail...
|
|
JAK2 rearrange
|
myeloid neoplasm
|
sensitive
|
Pacritinib
|
Guideline |
Actionable |
Vonjo (pacritinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a JAK2 rearrangement (NCCN.org).
|
detail...
|
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Binimetinib + Encorafenib
|
Guideline |
Actionable |
Mektovi (binimetinib) and Braftovi (encorafenib) combination therapy is included in guidelines as a second-line or subsequent therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 activating mutation (NCCN.org).
|
detail...
|
|
TP53 mutant
|
nephroblastoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in TP53 result in Li-Fraumeni syndrome, which is associated with increased risk of developing Wilms tumor (nephroblastoma) (NCCN.org).
|
detail...
|
|
NRAS Q61X
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
NRAS Q61X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
colon cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for advanced or metastatic colon cancer patients with an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 mutant
|
adrenocortical carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing adrenocortical carcinoma (NCCN.org).
|
detail...
|
|
MSH6 mutant
|
rectum cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org).
|
detail...
|
|
FGFR3 act mut
|
oropharynx cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oropharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Pirtobrutinib
|
Guideline |
Actionable |
Jaypirca (pirtobrutinib) is included in guidelines (category 1) as second-line or subsequent therapy for patients with chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss and for patients with relapsed or refractory disease after prior BTK inhibitor and BCL2 inhibitor-containing therapy (NCCN.org).
|
detail...
|
|
BRAF V600E
|
ovary epithelial cancer
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) is included in guidelines as second-line or subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
|
BRAF V600X
|
pilocytic astrocytoma
|
sensitive
|
Tovorafenib
|
Guideline |
Actionable |
Ojemda (tovorafenib) is included in guidelines (category 2A) for patients with recurrent or progressive circumscribed glioma, including pilocytic astrocytoma, harboring BRAF fusions, rearrangements, or BRAF V600 mutations (NCCN.org).
|
detail...
|
|
FGFR1 act mut
|
oropharynx cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oropharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
RET fusion
|
salivary gland cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines (category 2A) for patients with recurrent, unresectable, or metastatic salivary gland tumors harboring RET fusions (NCCN.org).
|
detail...
|
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Pembrolizumab
|
Guideline |
Actionable |
Monotherapy with immune checkpoint inhibitors, including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab), is not indicated for use as initial systemic therapy or subsequent therapy in non-small cell lung cancer patients harboring oncogenic drivers, including ALK rearrangement (NCCN.org).
|
detail...
|
|
RET fusion
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as first-line or subsequent therapy for patients with metastatic ampullary adenocarcinoma harboring RET fusions (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with squamous cell carcinoma of unknown primary harboring NTRK1 fusions (NCCN.org).
|
detail...
|
|
MLH1 negative
|
oral cavity cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic oral cavity cancer (NCCN.org).
|
detail...
|
|
NRAS wild-type
|
rectum cancer
|
predicted - sensitive
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
vaginal carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
vulva squamous cell carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic vulvar squamous cell carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
follicular thyroid carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
BRAF fusion
|
pilocytic astrocytoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
BRAF fusions aid in the diagnosis of pilocytic astrocytoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Cemiplimab
|
Guideline |
Actionable |
Libtayo (cemiplimab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH1 mutations are associated with inferior leukemia-free survival in patients with myelofibrosis (NCCN.org).
|
detail...
|
|
ATR inact mut
|
prostate cancer
|
sensitive
|
Enzalutamide + Talazoparib
|
Guideline |
Actionable |
Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic ATR mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org).
|
detail...
|
|
NRAS exon4
|
colon cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is not indicated for use in colon cancer patients with NRAS exon 4 mutations (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Acalabrutinib
|
Guideline |
Actionable |
Calquence (acalabrutinib) is included in guidelines as first-line (category 2A) and second-line or subsequent therapy (category 1) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
cholangiocarcinoma
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines as subsequent therapy (category 1) for cholangiocarcinoma patients harboring IDH1 mutations (NCCN.org).
|
detail...
|
|
FGFR1 rearrange
|
myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an FGFR1 rearrangement (NCCN.org).
|
detail...
|
|
FGFR1 act mut
|
breast cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (category 2B) (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) is included in guidelines as second-line or subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
breast cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (category 2B) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Atezolizumab
|
Guideline |
Actionable |
Tecentriq (atezolizumab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, MLH1, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as neoadjuvant or adjuvant therapy for stage III disease and as second-line or subsequent therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation (NCCN.org).
|
detail...
|
|
RET fusion
|
vaginal carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma harboring an RET fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
cervical cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with recurrent or metastatic cervical cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
FGFR3 act mut
|
maxillary sinus cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with maxillary sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
RET fusion
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring a RET fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
breast cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) therapy is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
CSF1R mutant
|
Erdheim-Chester disease
|
sensitive
|
Pexidartinib
|
Guideline |
Actionable |
Turalio (pexidartinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring CSF1R mutations (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
high grade glioma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring NTRK fusions, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).
|
detail...
|
|
KIT exon11
|
gastrointestinal stromal tumor
|
sensitive
|
Imatinib
|
Guideline |
Actionable |
Gleevec (imatinib) is included in guidelines for patients with gastrointestinal stromal tumor (GIST) harboring KIT exon 11 mutations (NCCN.org).
|
detail...
|
|
BRAF V600E
|
pancreatic adenocarcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) plus Mekinist (trametinib) is included in guidelines as first-line therapy for pancreatic adenocarcinoma patients harboring BRAF V600E with locally advanced or metastatic disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS) (category 2A), as first-line therapy in patients metastatic disease with poor (ECOG 3) PS (category 2B), and as subsequent-line therapy for patients with locally advanced, recurrent, or metastatic disease (category 2A) (NCCN.org).
|
detail...
|
|
JAK2 V617F
|
polycythemia vera
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
JAK2 V617F aids in the diagnosis of polycythemia vera (NCCN.org).
|
detail...
|
|
FGFR3 act mut
|
oral cavity cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oral cavity cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Cemiplimab
|
Guideline |
Actionable |
Libtayo (cemiplimab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 exon15
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
pancreatic adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line therapy for mismatch repair-deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) pancreatic adenocarcinoma patients with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), with metastatic disease with good, intermediate, or poor (ECOG 3) PS, and as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
papillary thyroid carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with RAI-refractory papillary thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
soft tissue sarcoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is in guidelines for patients with soft tissue sarcoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
RET fusion
|
endometrial carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as a second-line or subsequent-line therapy for patients with recurrent endometrial carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Atezolizumab + Capecitabine + Oxaliplatin
|
Guideline |
Actionable |
Tecentriq (atezolizumab) in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as adjuvant therapy (category 2A) for patients with small bowel adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, MLH1, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
IDH1 act mut
|
malignant astrocytoma
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines for patients with WHO grade 2 astrocytoma harboring an IDH1 activating mutation with residual/measurable disease or as adjuvant treatment after surgery/biopsy or recurrent or progressive disease and WHO grade 3 or 4 with recurrent or progressive disease or WHO grade 3 as adjuvant treatment (category 2B) (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
oral cavity cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oral cavity cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Idelalisib + Rituximab
|
Guideline |
Actionable |
Zydelig (idelalisib) combined with Rituxan (rituximab) is included in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Durvalumab
|
Guideline |
Actionable |
Imfinzi (durvalumab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, MLH1, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
colon cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with advanced or metastatic colon cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
chordoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chordoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
neuroendocrine tumor
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms harboring an NTRK fusion who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
gallbladder cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as primary and subsequent-line therapy (category 2A) for patients with unresectable or metastatic biliary tract cancer harboring NTRK fusions, including gallbladder cancer (NCCN.org).
|
detail...
|
|
BRAF V600E
|
high grade glioma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring BRAF V600E, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).
|
detail...
|
|
FGFR1 act mut
|
glioblastoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines (category 2B) for patients with recurrent or progressive glioblastoma harboring FGFR mutations or fusions with no alternative treatment options (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Atezolizumab
|
Guideline |
Actionable |
Tecentriq (atezolizumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
IDH2 wild-type
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
IDH2 wild-type is associated with increased risk of aggressive disease in patients with grade II or III infiltrative gliomas (NCCN.org).
|
detail...
|
|
MSH6 negative
|
osteosarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic osteosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Durvalumab
|
Guideline |
Actionable |
Imfinzi (durvalumab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 exon14
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with adenocarcinoma of unknown primary harboring NTRK1 fusions (NCCN.org).
|
detail...
|
|
IDH2 R140Q
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH2 R140Q is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
|
MLH1 negative
|
chordoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chordoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
medullary thyroid carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with medullary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
|
MSH6 negative
|
gallbladder cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).
|
detail...
|
|
FGFR1 rearrange
|
myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
|
sensitive
|
Pemigatinib
|
Guideline |
Actionable |
Pemazyre (pemigatinib) is included in guidelines (category 2A) for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an FGFR1 rearrangement (NCCN.org).
|
detail...
|
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Brigatinib
|
Guideline |
Actionable |
Alunbrig (brigatinib) is included in guidelines as preferred first-line (category 1) and as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (NCCN.org).
|
detail...
|
|
RET fusion
|
rectum cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines (category 2A) for patients with metastatic rectum cancer harboring RET fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
appendix adenocarcinoma
|
sensitive
|
Tislelizumab
|
Guideline |
Actionable |
Tevimbra (tislelizumab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
RET fusion
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as primary (category 2B) and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
pilocytic astrocytoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines (category 2B) for patients with recurrent or progressive circumscribed glioma, including pilocytic astrocytoma, harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
rectum cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with advanced or metastatic rectal cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MLH1 mutant
|
stomach cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org).
|
detail...
|
|
MSH6 negative
|
breast cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR3 fusion
|
lung non-small cell carcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org).
|
detail...
|
|
JAK2 mutant
|
essential thrombocythemia
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org).
|
detail...
|
|
PDGFRB rearrange
|
myeloid and lymphoid neoplasms associated with PDGFRB rearrangement
|
sensitive
|
Imatinib
|
Guideline |
Actionable |
Gleevec (imatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a PDGFRB rearrangement (NCCN.org).
|
detail...
|
|
TP53 mutant
|
mantle cell lymphoma
|
sensitive
|
Acalabrutinib + Rituximab
|
Guideline |
Actionable |
The combination of Calquence (acalabrutinib) and Rituxan (rituximab) is included in guidelines as induction therapy for patients with mantle cell lymphoma harboring a TP53 mutation (NCCN.org).
|
detail...
|
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
|
BRAF V600E
|
lung non-small cell carcinoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) is in guidelines as a first-line therapy for patients with advanced or metastatic non-small cell lung cancer with BRAF V600E mutations who can not tolerate the combination of Mekinist (trametinib) and Tafinlar (dabrafenib) (NCCN.org).
|
detail...
|
|
RET fusion
|
breast cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer harboring RET fusions (NCCN.org).
|
detail...
|
|
KMT2A rearrange
|
childhood T-cell acute lymphoblastic leukemia
|
sensitive
|
Revumenib
|
Guideline |
Actionable |
Revuforj (revumenib) is included in guidelines for pediatric patients with relapsed or refractory T-cell acute lymphoblastic leukemia harboring a KMT2A rearrangement (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
skin melanoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) therapy is included in guidelines for patients with metastatic or unresectable cutaneous melanoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
ROS1 fusion ROS1 G2032R
|
lung non-small cell carcinoma
|
sensitive
|
Zidesamtinib
|
Guideline |
Actionable |
Jideytro (zidesamtinib) is included in guidelines as subsequent therapy (category 2A) for patients with advanced or metastatic non-small lung cancer harboring a ROS1 fusion with ROS1 G2032R (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Alemtuzumab + Rituximab
|
Guideline |
Actionable |
Campath (alemtuzumab) combined with Rituxan (rituximab) is included in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
MSH6 negative
|
maxillary sinus cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic maxillary sinus cancer (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
uterine corpus sarcoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable uterine sarcoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Cemiplimab
|
Guideline |
Actionable |
Libtayo (cemiplimab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
low grade glioma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with recurrent or progressive low grade glioma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MLH1 negative
|
appendix adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 mutant
|
small intestine adenocarcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
pleomorphic xanthoastrocytoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines (category 2B) for patients with recurrent or progressive circumscribed glioma, including pleomorphic xanthoastrocytoma, harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with adenocarcinoma of unknown primary harboring BRAF V600E (NCCN.org).
|
detail...
|
|
MSH6 negative
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with Hurthle cell thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
APC mutant
|
desmoid tumor
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
APC mutations aid the diagnosis of desmoid tumor (NCCN.org).
|
detail...
|
|
PTEN inact mut
|
colon cancer
|
sensitive
|
Aspirin
|
Guideline |
Actionable |
Aspirin is included in guidelines as adjuvant therapy (category 2A) for patients with advanced colon cancer harboring inactivating PTEN mutations, including deep deletions, and other somatic mutations affecting the PI3K pathway genes PIK3CA or PIK3R1 (NCCN.org).
|
detail...
|
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Toripalimab-tpzi
|
Guideline |
Actionable |
Loqtorz (toripalimab-tpzi) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Penpulimab-kcqx
|
Guideline |
Actionable |
Penpulimab-kcqx (AK105) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
appendix adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines (category 2A) as second-line or subsequent therapy for patients with advanced or metastatic appendiceal adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
FLT3 exon17
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
vulva adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic vulvar adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
RET mutant
|
medullary thyroid carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as a preferred systemic therapy for patients with medullary thyroid carcinoma harboring pathogenic RET variants (category 2B) (NCCN.org).
|
detail...
|
|
RET C609X
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET C609X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
RET fusion
|
appendix adenocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines (category 2A) as second-line or subsequent therapy for patients with advanced or metastatic appendiceal adenocarcinoma harboring RET fusions (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
breast cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) therapy is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
anaplastic thyroid carcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as neoadjuvant treatment for anaplastic thyroid carcinoma patients harboring BRAF V600E with tage IVa or IVb borderline resectable disease, and as a preferred systemic therapy for those with metastatic disease (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with adenocarcinoma of unknown primary harboring NTRK2 fusions (NCCN.org).
|
detail...
|
|
BRAF V600E
|
gastrointestinal stromal tumor
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as neoadjuvant therapy for patients with resectable disease and as first-line systemic therapy for patients with unresectable or metastatic gastrointestinal stromal tumor (GIST) harboring BRAF V600E (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
NRAS wild-type
|
colon cancer
|
predicted - sensitive
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic colon cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
|
RET fusion
|
hepatocellular carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hepatocellular carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as primary and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring an NTRK fusion, including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
gallbladder cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as primary and subsequent-line therapy (category 2A) for patients with unresectable or metastatic biliary tract cancer harboring NTRK fusions, including gallbladder cancer (NCCN.org)
|
detail...
|
|
RET fusion
|
ovary epithelial cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer harboring a RET fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
cervical cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with recurrent or metastatic cervical cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
stomach cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer harboring an NTRK1 fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
esophagus squamous cell carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
gastrointestinal stromal tumor
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as neoadjuvant therapy for patients with resectable disease and as first-line systemic therapy for patients with unresectable or metastatic gastrointestinal stromal tumor (GIST) harboring NTRK fusions (NCCN.org).
|
detail...
|
|
FGFR2 rearrange
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Futibatinib
|
Guideline |
Actionable |
Lytgobi (futibatinib) is included in guidelines as subsequent-line therapy (category 2A) for patients with cholangiocarcinoma harboring an FGFR2 fusion or rearrangement (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
low grade glioma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with recurrent or progressive low grade glioma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
FGFR1 act mut
|
lung non-small cell carcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org).
|
detail...
|
|
JAK2 rearrange
|
myeloid neoplasm
|
sensitive
|
Momelotinib
|
Guideline |
Actionable |
Momelotinib (CYT387) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a JAK2 rearrangement (NCCN.org).
|
detail...
|
|
FLT3 rearrange
|
myeloid neoplasm
|
sensitive
|
Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).
|
detail...
|
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Alectinib
|
Guideline |
Actionable |
Alecensa (alectinib) is included in guidelines as perioperative systemic therapy (category 1) for patients with ALK-rearranged advanced or metastatic non-small cell lung cancer, and as preferred first-line therapy (category 1) and as subsequent therapy for patients with advanced or metastatic disease (NCCN.org).
|
detail...
|
|
MSH6 negative
|
gallbladder cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).
|
detail...
|
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a preferred primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with adenocarcinoma of unknown primary harboring NTRK2 fusions (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Cosibelimab
|
Guideline |
Actionable |
Unloxcyt (cosibelimab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, PMS2, or MLH1 expression by IHC) (NCCN.org).
|
detail...
|
|
JAK1 mutant
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK1 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
JAK2 mutant
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
ALK rearrange
|
anaplastic large cell lymphoma
|
sensitive
|
Brigatinib
|
Guideline |
Actionable |
Alunbrig (brigatinib) is included in guidelines as initial, second-line, and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org).
|
detail...
|
|
RET fusion
|
lung non-small cell carcinoma
|
sensitive
|
Cabozantinib
|
Guideline |
Actionable |
Cometriq (cabozantinib) is included in guidelines as subsequent therapy (category 2A) for patients with advanced or metastatic non-small cell lung cancer harboring a RET fusion (NCCN.org).
|
detail...
|
|
MSH6 mutant
|
ovarian cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Acalabrutinib + Obinutuzumab
|
Guideline |
Actionable |
Calquence (acalabrutinib) combined with Gazyva (obinutuzumab) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Durvalumab + Tremelimumab
|
Guideline |
Actionable |
Imfinzi (durvalumab), in combination with Imjudo (tremelimumab), is included in guidelines as neoadjuvant therapy for patients with gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
pilocytic astrocytoma
|
sensitive
|
Selumetinib
|
Guideline |
Actionable |
Koselugo (selumetinib) is included in guidelines for patients with recurrent or progressive pilocytic astrocytoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH2 mutations are associated with a favorable prognosis in patients with glioma, and are associated with a survival benefit for patients treated with radiation or alkylator therapy (NCCN.org).
|
detail...
|
|
MSH6 negative
|
vaginal carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR1 fusion
|
oral cavity cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oral cavity cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
BRAF V600X
|
pleomorphic xanthoastrocytoma
|
sensitive
|
Tovorafenib
|
Guideline |
Actionable |
Ojemda (tovorafenib) is included in guidelines (category 2A) for patients with recurrent or progressive circumscribed glioma, including pleomorphic xanthoastrocytoma, harboring BRAF fusions, rearrangements, or BRAF V600 mutations (NCCN.org).
|
detail...
|
|
BRAF V600E
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring BRAF V600E for whom clinical trials or other systemic therapies are not available or appropriate (category 2B) (NCCN.org).
|
detail...
|
|
JAK1 mutant
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK1 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
RET fusion
|
pheochromocytoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with RET fusion-positive, locally unresectable or metastatic pheochromocytoma (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
stomach cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer harboring an NTRK2 fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Atezolizumab + Capecitabine + Oxaliplatin
|
Guideline |
Actionable |
Tecentriq (atezolizumab) in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as adjuvant therapy for patients with colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
ROS1 rearrange ROS1 G2032R
|
lung non-small cell carcinoma
|
sensitive
|
Taletrectinib
|
Guideline |
Actionable |
Ibtrozi (taletrectinib) is included in guidelines as a subsequent therapy for patients with ROS1 rearranged non-small cell lung cancer harboring ROS1 G2032R (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
extrahepatic bile duct carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as primary and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring an NTRK fusion, including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
RET fusion
|
neuroendocrine tumor
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms harboring RET fusions who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
oligodendroglioma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
PDGFRB rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
PDGFRB rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
RET fusion
|
papillary thyroid carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with RAI-refractory papillary thyroid carcinoma harboring a RET fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as first-line or subsequent therapy for patients with advanced or metastatic ROS1-rearranged non-small cell lung cancer (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
neuroendocrine tumor
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms harboring an NTRK fusion who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
small intestine adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with metastatic small bowel adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib + Lisocabtagene maraleucel
|
Guideline |
Actionable |
Breyanzi (lisocabtagene maraleucel) in combination with Imbruvica (ibrutinib) is included in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
BRAF wild-type
|
colon cancer
|
predicted - sensitive
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic colon cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
|
FGFR1 fusion
|
salivary gland cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring FGFR mutations or fusions (category 2B) who received prior systemic therapy and have no alternative systemic therapy available (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
vaginal carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma harboring an NTRK fusion who are naive to prior NTRK targeted therapy or have progressed on prior NTRK therapy (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Toripalimab-tpzi
|
Guideline |
Actionable |
Loqtorz (toripalimab-tpzi) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Atezolizumab + Fluorouracil + Leucovorin + Oxaliplatin
|
Guideline |
Actionable |
Tecentriq (atezolizumab) in combination with Adrucil (fluorouracil), Wellcovorin (leucovorin), and Eloxatin (oxaliplatin) is included in guidelines as adjuvant therapy (category 2A) for patients with small bowel adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, MLH1, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 mutant
|
pancreatic cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).
|
detail...
|
|
FLT3 exon22
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Pirtobrutinib
|
Guideline |
Actionable |
Jaypirca (pirtobrutinib) is included in guidelines (category 1) as second-line or subsequent therapy for patients with chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation and for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
MSH6 negative
|
hepatocellular carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) hepatocellular carcinoma (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
salivary gland cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with NTRK2 fusion-positive salivary gland tumors with distant metastases (NCCN.org).
|
detail...
|
|
VHL mutant
|
islet cell tumor
|
sensitive
|
Belzutifan
|
Guideline |
Actionable |
Welireg (belzutifan) is included in guidelines for patients with well-differentiated Grade 1/2 progressive pancreatic neuroendocrine tumors harboring germline VHL mutations (NCCN.org).
|
detail...
|
|
IDH1 act mut
|
astrocytoma, IDH-mutant, grade 2
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines for patients with WHO grade 2 astrocytoma harboring an IDH1 activating mutation with no residual/measurable disease or as adjuvant therapy after surgery/biopsy (category 1) and for patients with recurrent or progressive disease (category 2A) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Penpulimab-kcqx
|
Guideline |
Actionable |
Penpulimab-kcqx (AK105) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, MLH1, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Duvelisib
|
Guideline |
Actionable |
Copiktra (duvelisib) is included in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
esophagus adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
pancreatic adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) with good (ECOG 0-1), intermediate (ECOG 2) (category 2A), or poor (ECOG 3) (category 2B) performance status who have not received prior immunotherapy (NCCN.org).
|
detail...
|
|
FGFR3 fusion
|
salivary gland cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring FGFR mutations or fusions (category 2B) who received prior systemic therapy and have no alternative systemic therapy available (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Durvalumab
|
Guideline |
Actionable |
Imfinzi (durvalumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
MAP2K1 mutant
|
follicular lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
MAP2K1 mutations aid in the diagnosis of follicular lymphoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Lenalidomide + Rituximab
|
Guideline |
Actionable |
Revlimid (lenalidomide) combined with Rituxan (rituximab) is included in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as first-line therapy (category 1) for patients with ALK-rearranged advanced or metastatic non-small cell lung cancer, and as a subsequent therapy after asymptomatic progression on Xalkori (crizotinib) treatment (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Rituximab + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Rituxan (rituximab) is included in guidelines as second-line or subsequent therapy (category 1) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
|
MLH1 negative
|
ethmoid sinus cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic ethmoid sinus cancer (NCCN.org).
|
detail...
|
|
JAK2 exon12
|
polycythemia vera
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (NCCN.org).
|
detail...
|
|
BRAF V600E
|
colon cancer
|
sensitive
|
Capecitabine + Cetuximab + Encorafenib + Oxaliplatin
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) and CAPEOX is included in guidelines as an initial therapy (category 2A) for patients with advanced or metastatic colon cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
KIT D816V
|
systemic mastocytosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
KIT D816V is associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org).
|
detail...
|
|
MLH1 negative
|
appendix adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
KIT D816V
|
systemic mastocytosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
KIT D816V aids in the diagnosis of systemic mastocytosis (NCCN.org).
|
detail...
|
|
PIK3CA exon10
|
colon cancer
|
sensitive
|
Aspirin
|
Guideline |
Actionable |
Aspirin is included in guidelines as adjuvant therapy (category 2A) for patients with advanced colon cancer harboring PIK3CA exon 10 (reported as exon 9) mutations, including hotspot mutations occurring at E542, E545, and Q546, and other somatic mutations affecting the PI3K pathway genes PIK3CA, PIK3R1, or PTEN (NCCN.org).
|
detail...
|
|
FLT3 exon15
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
anaplastic astrocytoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic astrocytoma (NCCN.org).
|
detail...
|
|
MSH6 negative
|
extrahepatic bile duct carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
appendix adenocarcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
ethmoid sinus cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic ethmoid sinus cancer (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, PMS2, or MLH1 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
neuroendocrine tumor
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) locally advanced or metastatic well-differentiated, Grade 3 neuroendocrine tumors or unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) therapy is included in guidelines for patients with unresectable or metastatic cutaneous melanoma harboring BRAF V600 activating mutations, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).
|
detail...
|
|
MLH1 negative
|
extrahepatic bile duct carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
MSH6 negative
|
endometrial carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent-line therapy for patients with recurrent or metastatic endometrial carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
RET fusion
|
follicular thyroid carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines for patients with RAI-refractory follicular thyroid carcinoma harboring a RET fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
BRAF rearrange
|
subependymal giant cell astrocytoma
|
sensitive
|
Tovorafenib
|
Guideline |
Actionable |
Ojemda (tovorafenib) is included in guidelines (category 2A) for patients with recurrent or progressive circumscribed glioma, including subependymal giant cell astrocytoma, harboring BRAF fusions, rearrangements, or BRAF V600 mutations (NCCN.org).
|
detail...
|
|
RET fusion
|
lung non-small cell carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as a preferred first-line therapy (category 1) for patients with advanced or metastatic non-small cell lung cancer harboring a RET fusion (NCCN.org).
|
detail...
|
|
KIT act mut
|
skin melanoma
|
sensitive
|
Imatinib
|
Guideline |
Actionable |
Gleevec (imatinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).
|
detail...
|
|
FLT3 exon15
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
colon cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with advanced or metastatic colon cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
ALK rearrange
|
anaplastic large cell lymphoma
|
sensitive
|
Alectinib
|
Guideline |
Actionable |
Alecensa (alectinib) is included in guidelines as second-line and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org).
|
detail...
|
|
FLT3 exon20
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
gallbladder cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
lung non-small cell carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as first-line or subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring an NTRK1 fusion (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Methylprednisolone + Obinutuzumab
|
Guideline |
Actionable |
Artisone-Wyeth (methylprednisolone) combined with Gazyva (obinutuzumab) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation and for patients with relapsed or refractory disease after prior BTK inhibitor and BLC2 inhibitor-based regimens (NCCN.org).
|
detail...
|
|
MSH6 negative
|
endometrial carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line or second-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
endometrial carcinoma
|
sensitive
|
Tislelizumab
|
Guideline |
Actionable |
Tevimbra (tislelizumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
|
CDKN2A mutant
|
pancreatic cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in CDKN2A results in familial malignant melanoma syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Lisocabtagene maraleucel
|
Guideline |
Actionable |
Breyanzi (lisocabtagene maraleucel) is included in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
RET mutant
|
medullary thyroid carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as a preferred systemic therapy for patients with medullary thyroid carcinoma harboring pathogenic RET variants (category 1) (NCCN.org).
|
detail...
|
|
RET fusion
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring a RET fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Avelumab
|
Guideline |
Actionable |
Bavencio (avelumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as subsequent-line therapy for patients with biliary cancer harboring BRAF V600E, including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
papillary thyroid carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with papillary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
|
RET fusion
|
uterine corpus sarcoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as first-line therapy for patients with advanced, recurrent/metastatic, or inoperable uterine sarcomas harboring RET fusions (NCCN.org).
|
detail...
|
|
FGFR3 act mut
|
supraglottis cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with supraglottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
RET C634X
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET C634X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
FGFR2 act mut
|
supraglottis cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with supraglottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
MLH1 negative
|
appendix adenocarcinoma
|
sensitive
|
Retifanlimab
|
Guideline |
Actionable |
Zynyz (retifanlimab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
glioblastoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent glioblastoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as neoadjuvant, preferred first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR3 fusion
|
breast cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (category 2B) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
colon cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for advanced or metastatic colon cancer patients with an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
endometrial carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as a second-line or subsequent-line therapy (category 2A) for patients with recurrent endometrial carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
KIT D816X
|
systemic mastocytosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
Activating mutations at codon 816 of KIT aid in the diagnosis of systemic mastocytosis (NCCN.org).
|
detail...
|
|
FLT3 exon14
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
ATM mutant
|
pancreatic cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline ATM mutations are associated with increased risk of developing pancreatic cancer (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Cosibelimab
|
Guideline |
Actionable |
Unloxcyt (cosibelimab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Idelalisib + Rituximab
|
Guideline |
Actionable |
Zydelig (idelalisib) combined with Rituxan (rituximab) is included in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
BRAF V600E
|
colon cancer
|
sensitive
|
Encorafenib + Fluorouracil + Leucovorin + Oxaliplatin + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) and FOLFOX is included in guidelines as a preferred initial therapy (category 2A) for patients with advanced or metastatic colon cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
esophagus squamous cell carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
ABL1 rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
ABL1 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
FGFR2 act mut
|
hypopharynx cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hypopharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Cemiplimab
|
Guideline |
Actionable |
Libtayo (cemiplimab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, PMS2, or MLH1 expression by IHC) (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
acute myeloid leukemia
|
sensitive
|
Decitabine
|
Guideline |
Actionable |
Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
anaplastic astrocytoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring an NTRK fusion, including anaplastic astrocytoma (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as second-line or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal squamous cell carcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
|
BRAF V600E
|
follicular thyroid carcinoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) is included in guidelines for patients with RAI-refractory follicular thyroid carcinoma harboring BRAF V600E for whom clinical trials or other systemic therapies are not available or appropriate (category 2B) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
colon cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for advanced or metastatic colon cancer patients with an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
gastrointestinal stromal tumor
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as neoadjuvant therapy (category 2B) for patients with resectable disease and as first-line or second-line systemic therapy (category 2A) for patients with unresectable or metastatic gastrointestinal stromal tumor (GIST) harboring NTRK fusions (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NRAS exon3
|
colon cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is not indicated for use in colon cancer patients with NRAS exon 3 mutations (NCCN.org).
|
detail...
|
|
FLT3 exon22
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as neoadjuvant, preferred first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
follicular thyroid carcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with RAI-refractory follicular thyroid carcinoma harboring BRAF V600E who have progressed on therapy and have no further treatment options (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
vulva adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic vulvar adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
VHL inact mut
|
renal cell carcinoma
|
sensitive
|
Belzutifan
|
Guideline |
Actionable |
Welireg (belzutifan) is included in guidelines for patients with Von Hippel-Lindau disease-associated renal cell carcinoma that do not require immediate surgery (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
anaplastic thyroid carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as neoadjuvant treatment for anaplastic thyroid carcinoma patients harboring NTRK fusions with stage IVa or IVb borderline resectable disease, and as a preferred systemic therapy for those with metastatic disease (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
acute myeloid leukemia
|
sensitive
|
Azacitidine
|
Guideline |
Actionable |
Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).
|
detail...
|
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Ceritinib
|
Guideline |
Actionable |
Zykadia (ceritinib) is included in guidelines as first-line (category 1) and as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (NCCN.org).
|
detail...
|
|
FGFR1 fusion
|
glottis cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with glottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Azacitidine + Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) in combination with Vidaza (azacitidine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
colon cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for advanced or metastatic colon cancer patients with an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600X
|
subependymal giant cell astrocytoma
|
sensitive
|
Tovorafenib
|
Guideline |
Actionable |
Ojemda (tovorafenib) is included in guidelines (category 2A) for patients with recurrent or progressive circumscribed glioma, including subependymal giant cell astrocytoma, harboring BRAF fusions, rearrangements, or BRAF V600 mutations (NCCN.org).
|
detail...
|
|
FGFR2 rearrange
|
extrahepatic bile duct carcinoma
|
sensitive
|
Futibatinib
|
Guideline |
Actionable |
Lytgobi (futibatinib) is included in guidelines as subsequent-line therapy (category 2A) for patients with cholangiocarcinoma harboring an FGFR2 fusion or rearrangement (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
skin melanoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) therapy is included in guidelines for patients with metastatic or unresectable cutaneous melanoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with inferior prognosis in acute myeloid leukemia patients with normal karyotype (NCCN.org).
|
detail...
|
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Binimetinib + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Mektovi (binimetinib) is included in guidelines as first-line and second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org).
|
30959471
detail...
|
|
NTRK1 fusion
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
TP53 mutant
|
medulloblastoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
TP53 mutations are associated with aggressive disease in patients with SHH-activated medulloblastoma (NCCN.org).
|
detail...
|
|
CTNNB1 mutant
|
medulloblastoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org).
|
detail...
|
|
BRAF V600E
|
small intestine adenocarcinoma
|
sensitive
|
Cetuximab + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
PIK3CA exon21
|
colon cancer
|
sensitive
|
Aspirin
|
Guideline |
Actionable |
Aspirin is included in guidelines as adjuvant therapy (category 2A) for patients with advanced colon cancer harboring PIK3CA exon 21 (reported as exon 20) mutations, including hotspot mutations occurring at Y1021, M1043, N1044, and H1047, and other somatic mutations affecting the PI3K pathway genes PIK3CA, PIK3R1, or PTEN (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Penpulimab-kcqx
|
Guideline |
Actionable |
Penpulimab-kcqx (AK105) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, MLH1, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as first-line or subsequent therapy for patients with metastatic ampullary adenocarcinoma harboring NTRK fusions (NCCN.org).
|
detail...
|
|
ATM mutant
|
skin melanoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline ATM mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
IDH1 wild-type
|
IDH-wildtype glioblastoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
Wild-type IDH1 aids in the diagnosis of glioblastoma (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
Erdheim-Chester disease
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring NTRK1 fusions (NCCN.org).
|
detail...
|
|
FLT3 exon19
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
BRAF fusion
|
pilocytic astrocytoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
BRAF fusions are associated with indolent disease in patients with pilocytic astrocytoma (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
neuroendocrine tumor
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms harboring an NTRK fusion who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Olutasidenib
|
Guideline |
Actionable |
Rezlidhia (olutasidenib) is included in guidelines as systemic therapy for patients with (category 2A) or without (category 2B) relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
|
MLH1 negative
|
appendix adenocarcinoma
|
sensitive
|
Cemiplimab
|
Guideline |
Actionable |
Libtayo (cemiplimab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF rearrange
|
pleomorphic xanthoastrocytoma
|
sensitive
|
Tovorafenib
|
Guideline |
Actionable |
Ojemda (tovorafenib) is included in guidelines (category 2A) for patients with recurrent or progressive circumscribed glioma, including pleomorphic xanthoastrocytoma, harboring BRAF fusions, rearrangements, or BRAF V600 mutations (NCCN.org).
|
detail...
|
|
MSH6 negative
|
salivary gland cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with recurrent, unresectable, or metastatic salivary gland tumors with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as neoadjuvant, preferred first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
gallbladder cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as primary and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring an NTRK fusion, including gallbladder cancer (NCCN.org).
|
detail...
|
|
MSH6 negative
|
ovarian germ cell cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as recurrence therapy for patients with malignant ovarian germ cell tumors with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
appendix adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
anaplastic oligodendroglioma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring an NTRK fusion, including anaplastic oligodendroglioma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in cutaneous melanoma guidelines for patients with metastatic or unresectable disease harboring a BRAF V600 activating mutation (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Cosibelimab
|
Guideline |
Actionable |
Unloxcyt (cosibelimab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
vaginal carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
FGFR3 act mut
|
glottis cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with glottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
follicular thyroid carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
KIT exon9
|
gastrointestinal stromal tumor
|
sensitive
|
Imatinib
|
Guideline |
Actionable |
Gleevec (imatinib) is included in guidelines for patients with gastrointestinal stromal tumor (GIST) harboring KIT exon 9 mutations (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
esophagus squamous cell carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
ATM inact mut
|
prostate cancer
|
sensitive
|
Enzalutamide + Talazoparib
|
Guideline |
Actionable |
Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic ATM mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org).
|
detail...
|
|
KIT act mut
|
skin melanoma
|
sensitive
|
Ripretinib
|
Guideline |
Actionable |
Qinlock (ripretinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
VHL inact mut
|
paraganglioma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline inactivating mutations in VHL result in von Hippel-Lindau (VHL) syndrome, which is associated with increased risk of developing paraganglioma (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
high grade glioma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring NTRK fusions, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).
|
detail...
|
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
cholangiocarcinoma
|
sensitive
|
Pemigatinib
|
Guideline |
Actionable |
Pemazyre (pemigatinib) is included in guidelines as subsequent-line therapy for patients with cholangiocarcinoma harboring FGFR2 fusions or rearrangements (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
MSH6 negative
|
endometrial carcinoma
|
sensitive
|
Avelumab
|
Guideline |
Actionable |
Bavencio (avelumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
|
RET L790X
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET L790X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Penpulimab-kcqx
|
Guideline |
Actionable |
Penpulimab-kcqx (AK105) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH6, MSH2, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
JAK3 mutant
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK3 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
KMT2A rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
KMT2A rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Retifanlimab
|
Guideline |
Actionable |
Zynyz (retifanlimab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Atezolizumab + Fluorouracil + Leucovorin + Oxaliplatin
|
Guideline |
Actionable |
Tecentriq (atezolizumab) in combination with Adrucil (fluorouracil), Wellcovorin (leucovorin), and Eloxatin (oxaliplatin) is included in guidelines as adjuvant therapy for patients with colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal squamous cell carcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
salivary gland cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with NTRK2 fusion-positive salivary gland tumors with distant metastases (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
oropharynx cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic oropharynx cancer (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of gliomas (PMID: 23041832, PMID: 19755387, PMID: 19915484; NCCN.org).
|
detail...
23041832
19755387
19915484
|
|
FLT3 exon17
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
endometrial carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line or second-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
oropharynx cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic oropharynx cancer (NCCN.org).
|
detail...
|
|
FLT3 exon15
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
ATM mutant
|
prostate cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline ATM mutations are associated with increased risk of developing prostate cancer (NCCN.org).
|
detail...
|
|
JAK3 rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK3 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
RET fusion
|
anaplastic thyroid carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as neoadjuvant treatment for anaplastic thyroid carcinoma patients harboring RET fusions with stage IVa or IVb borderline resectable disease, and as a preferred systemic therapy for those with metastatic disease (NCCN.org).
|
detail...
|
|
MLH1 negative
|
extrahepatic bile duct carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
MSH6 negative
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with squamous cell carcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
appendix adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
CBL mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
CBL mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org).
|
detail...
|
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
Loss of TP53 is associated with a poor prognosis in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org).
|
detail...
|
|
TP53 mutant
|
acute myeloid leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
TP53 mutations are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org).
|
detail...
|
|
IDH2 wild-type
|
IDH-wildtype glioblastoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
Wild-type IDH2 aids in the diagnosis of glioblastoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF wild-type
|
rectum cancer
|
predicted - sensitive
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
|
FLT3 rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
FLT3 exon21
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as subsequent therapy in patients with advanced or metastatic ROS1-rearranged non-small lung cancer (NCCN.org).
|
detail...
|
|
MLH1 negative
|
gallbladder cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
supraglottis cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with supraglottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
BRAF V600E
|
anaplastic oligodendroglioma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic oligodendroglioma (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
esophagus adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF fusion
|
skin melanoma
|
sensitive
|
Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with BRAF fusions (NCCN.org).
|
detail...
|
|
BRAF V600E
|
esophagus squamous cell carcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
small intestine adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with metastatic small bowel adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines (category 1) for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Futibatinib
|
Guideline |
Actionable |
Lytgobi (futibatinib) is included in guidelines as subsequent-line therapy (category 2A) for patients with cholangiocarcinoma harboring an FGFR2 fusion or rearrangement (NCCN.org).
|
detail...
|
|
MLH1 negative
|
salivary gland cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with recurrent, unresectable, or metastatic salivary gland tumors with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
mantle cell lymphoma
|
sensitive
|
Cyclophosphamide + Cytarabine + Dexamethasone + Doxorubicin + Ibrutinib + Prednisone + Rituximab + Vincristine Sulfate
|
Guideline |
Actionable |
The combination of Imbruvica (ibrutinib) plus RCHOP alternating with Rituxan (rituximab), Adexone (dexamethasone), Cytosar-U (cytarabine) plus a platinum is included in guidelines as induction therapy for patients with mantle cell lymphoma harboring a TP53 mutation (NCCN.org).
|
detail...
|
|
FGFR3 act mut
|
hypopharynx cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hypopharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as first-line or subsequent therapy for patients with advanced or metastatic ROS1-rearranged non-small cell lung cancer (NCCN.org).
|
detail...
|
|
BRAF V600E
|
pleomorphic xanthoastrocytoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) and Tafinlar (dabrafenib) combination therapy is included in guidelines as an adjuvant treatment for patients with pleomorphic xanthoastrocytoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
breast cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
pancreatic adenocarcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent therapy for patients with recurrent or locally advanced, metastatic pancreatic adenocarcinoma harboring an FGFR2 fusion with good (ECOG 0-1), intermediate (ECOG 2), or poor (ECOG 3) performance status (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
cervical cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with recurrent or metastatic cervical cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Durvalumab + Tremelimumab
|
Guideline |
Actionable |
Imfinzi (durvalumab), in combination with Imjudo (tremelimumab, is included in guidelines as neoadjuvant therapy for patients with gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) and Yervoy (ipilimumab) combination therapy is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
salivary gland cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring an NTRK1 fusion (NCCN.org).
|
detail...
|
|
TP53 mutant
|
adrenocortical carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline TP53 mutations result in Li-Fraumeni syndrome, which is associated with increased risk of developing adrenocortical carcinoma (NCCN.org).
|
detail...
|
|
FLT3 exon22
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
papillary thyroid carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with RAI-refractory papillary thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in the guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
RET fusion
|
medullary thyroid carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as a preferred systemic therapy for patients with medullary thyroid carcinoma harboring pathogenic RET variants, including RET fusions (category 1) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Atezolizumab
|
Guideline |
Actionable |
Tecentriq (atezolizumab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, MLH1, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as primary and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring an NTRK fusion, including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Atezolizumab + Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) plus Cotellic (cobimetinib) in combination with an immune checkpoint inhibitor, such as Tecentriq (atezolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Acalabrutinib + Obinutuzumab
|
Guideline |
Actionable |
Calquence (acalabrutinib) combined with Gazyva (obinutuzumab) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
|
FGFR3 fusion
|
ethmoid sinus cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with ethmoid sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as a second-line or subsequent therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 activating mutation (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
cholangiocarcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy for patients with cholangiocarcinoma harboring FGFR2 fusions or rearrangements (NCCN.org).
|
detail...
|
|
MLH1 negative
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF fusion
|
pleomorphic xanthoastrocytoma
|
sensitive
|
Tovorafenib
|
Guideline |
Actionable |
Ojemda (tovorafenib) is included in guidelines (category 2A) for patients with recurrent or progressive circumscribed glioma, including pleomorphic xanthoastrocytoma, harboring BRAF fusions, rearrangements, or BRAF V600 mutations (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
angioimmunoblastic T-cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
colon cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab), as a monotherapy, is not indicated for use in colon cancer patients with BRAF V600E (NCCN.org).
|
detail...
|
|
FGFR2 rearrange
|
cholangiocarcinoma
|
sensitive
|
Pemigatinib
|
Guideline |
Actionable |
Pemazyre (pemigatinib) is included in guidelines as subsequent-line therapy for patients with cholangiocarcinoma harboring FGFR2 fusions or rearrangements (NCCN.org).
|
detail...
|
|
JAK2 mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Retifanlimab
|
Guideline |
Actionable |
Zynyz (retifanlimab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, PMS2, or MLH1 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
anaplastic oligodendroglioma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic oligodendroglioma (NCCN.org).
|
detail...
|
|
TP53 mutant
|
mantle cell lymphoma
|
sensitive
|
Acalabrutinib + Cyclophosphamide + Cytarabine + Dexamethasone + Doxorubicin + Prednisone + Rituximab + Vincristine Sulfate
|
Guideline |
Actionable |
The combination of Calquence (acalabrutinib) plus RCHOP alternating with Rituxan (rituximab), Adexone (dexamethasone), Cytosar-U (cytarabine) plus a platinum is included in guidelines as induction therapy for patients with mantle cell lymphoma harboring a TP53 mutation (NCCN.org).
|
detail...
|
|
RET fusion
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with adenocarcinoma of unknown primary harboring RET fusions (NCCN.org).
|
detail...
|
|
RET fusion
|
anaplastic thyroid carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as neoadjuvant treatment for anaplastic thyroid carcinoma patients harboring RET fusions with stage IVa or IVb borderline resectable disease, and as a preferred systemic therapy for those with metastatic disease (NCCN.org).
|
detail...
|
|
FLT3 exon16
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
esophagus adenocarcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic esophageal adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Durvalumab
|
Guideline |
Actionable |
Imfinzi (durvalumab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
RET C611X
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET C611X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
essential thrombocythemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org).
|
detail...
|
|
FLT3 exon14
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
rectum cancer
|
sensitive
|
Capecitabine + Encorafenib + Oxaliplatin + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) and CAPEOX is included in guidelines as an initial therapy (category 2A) for patients with advanced or metastatic rectal cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as neoadjuvant, preferred first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
soft tissue sarcoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as a preferred first-line or subsequent therapy for patients with soft tissue sarcoma harboring an NTRK2 fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring BRAF V600E for whom clinical trials or other systemic therapies are not available or appropriate (category 2B) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Toripalimab-tpzi
|
Guideline |
Actionable |
Loqtorz (toripalimab-tpzi) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, PMS2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
endometrial carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as a second-line or subsequent-line therapy (category 2A) for patients with recurrent endometrial carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
FLT3 exon16
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
uterine corpus sarcoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable uterine sarcoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
JAK2 mutant
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK2 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
hypopharynx cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hypopharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
APC mutant
|
medulloblastoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
anaplastic thyroid carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as neoadjuvant treatment for anaplastic thyroid carcinoma patients harboring NTRK fusions with stage IVa or IVb borderline resectable disease, and as a preferred systemic therapy for those with metastatic disease (NCCN.org).
|
detail...
|
|
PIK3CA inact mut
|
rectum cancer
|
sensitive
|
Aspirin
|
Guideline |
Actionable |
Aspirin is included in guidelines as adjuvant therapy (category 2A) for patients with advanced rectal cancer harboring PIK3CA mutations, including hotspot mutations in exon 10 (reported as exon 9) and exon 21 (reported as exon 20), and other somatic mutations affecting the PI3K pathway genes PIK3R1 or PTEN (NCCN.org).
|
detail...
|
|
BRAF V600E
|
colon cancer
|
sensitive
|
Cetuximab + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) is included in guidelines (category 2A) as primary or subsequent therapy for patients with colon cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
MSH6 negative
|
breast cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
|
IDH1 R132H
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 R132H is diagnostic and aids in the diagnosis of gliomas (NCCN.org).
|
detail...
|
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Avelumab
|
Guideline |
Actionable |
Bavencio (avelumab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR1 act mut
|
ethmoid sinus cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with ethmoid sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Cosibelimab
|
Guideline |
Actionable |
Unloxcyt (cosibelimab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, MLH1, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
vulva squamous cell carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic vulvar squamous cell carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
MLH1 negative
|
Ewing sarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic Ewing sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Avelumab
|
Guideline |
Actionable |
Bavencio (avelumab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
ALK rearrange ALK L1196M ALK G1202R
|
lung non-small cell carcinoma
|
resistant
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is not indicated for use as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer harboring ALK L1196M and G1202R compound mutations (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
anaplastic astrocytoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring an NTRK fusion, including anaplastic astrocytoma (NCCN.org).
|
detail...
|
|
ALK rearrange
|
high grade glioma
|
sensitive
|
Alectinib
|
Guideline |
Actionable |
Alecensa (alectinib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring ALK rearrangement, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
ovary epithelial cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
gallbladder cancer
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as subsequent-line therapy for patients with biliary cancer harboring BRAF V600E, including gallbladder cancer (NCCN.org).
|
detail...
|
|
ATM mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
ATM mutations are associated with shorter time to first treatment, progression-free survival, time to next treatment, and overall survival with chemoimmunotherapy compared to wild-type ATM in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as first-line or subsequent therapy for patients with metastatic ampullary adenocarcinoma harboring NTRK fusions (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
follicular thyroid carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
salivary gland cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring an NTRK2 fusion (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
polycythemia vera
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH2 mutations are associated with inferior overall survival and leukemia-free survival in patients with polycythemia vera (NCCN.org).
|
detail...
|
|
KMT2A rearrange
|
acute myeloid leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
KMT2A rearrangements (t(v;11q23.3)) are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org).
|
detail...
|
|
PTEN del
|
rectum cancer
|
sensitive
|
Aspirin
|
Guideline |
Actionable |
Aspirin is included in guidelines as adjuvant therapy (category 2A) for patients with advanced rectal cancer harboring deep PTEN deletions and other somatic mutations affecting the PI3K pathway genes PIK3CA, PIK3R1, or PTEN (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) therapy is included in guidelines for patients with unresectable or metastatic cutaneous melanoma harboring BRAF V600 activating mutations, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Retifanlimab
|
Guideline |
Actionable |
Zynyz (retifanlimab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
anaplastic oligodendroglioma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring an NTRK fusion, including anaplastic oligodendroglioma (NCCN.org).
|
detail...
|
|
MSH6 mutant
|
endometrial carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as primary and subsequent-line therapy (category 2A) for patients with unresectable or metastatic biliary tract cancer harboring NTRK fusions, including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
essential thrombocythemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
TP53 mutations are associated with inferior leukemia-free survival in patients with essential thrombocythemia (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of gliomas (NCCN.org).
|
detail...
|
|
MLH1 negative
|
endometrial carcinoma
|
sensitive
|
Avelumab
|
Guideline |
Actionable |
Bavencio (avelumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
neuroendocrine tumor
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms harboring an NTRK fusion who have progressed on a prior NTRK-targeted therapy (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Azacitidine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Vidaza (azacitidine) is included in guidelines (category 1) for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
|
MSH6 negative
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
MSH6 mutant
|
pancreatic cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).
|
detail...
|
|
MSH6 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
osteosarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic osteosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 D835X
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 D835 mutations are associated with poor prognosis in patients with myelodysplastic syndromes (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
esophagus squamous cell carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
FLT3 exon23
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
lung non-small cell carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as first-line or subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring an NTRK1 fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
pancreatic adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as first-line therapy for pancreatic adenocarcinoma patients harboring an NTRK fusion with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), or with metastatic disease with good, intermediate (category 2A), or poor (ECOG 3) (category 2B) PS, and as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease with good (category 2A), intermediate, or poor (category 2B) PS (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
high grade glioma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring NTRK fusions, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).
|
detail...
|
|
FGFR3 fusion
|
supraglottis cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with supraglottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
BRAF V600E
|
colon cancer
|
sensitive
|
Capecitabine + Encorafenib + Oxaliplatin + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) and CAPEOX is included in guidelines as an initial therapy (category 2A) for patients with advanced or metastatic colon cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
RET fusion
|
paraganglioma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with RET fusion-positive, locally unresectable or metastatic paraganglioma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
papillary thyroid carcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with RAI-refractory papillary thyroid carcinoma harboring BRAF V600E who have progressed on therapy and have no further treatment options (NCCN.org).
|
detail...
|
|
JAK1 rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK1 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
BRAF wild-type
|
colon cancer
|
predicted - sensitive
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic colon cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
|
MLH1 negative
|
prostate adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with advanced or metastatic prostate adenocarcinoma cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
rectum cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with advanced or metastatic rectal cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as first-line or subsequent therapy for patients with metastatic ampullary adenocarcinoma harboring NTRK fusions (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
ovary epithelial cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
ovary epithelial cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib
|
Guideline |
Actionable |
Imbruvica (ibrutinib) is included in guidelines as first-line therapy (category 2A) and second-line or subsequent therapy (category 1) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
lung non-small cell carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as first-line or subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring an NTRK2 fusion (NCCN.org).
|
detail...
|
|
KIT act mut
|
skin melanoma
|
sensitive
|
Nilotinib
|
Guideline |
Actionable |
Tasigna (nilotinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
|
JAK2 rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK2 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
MSH6 negative
|
endometrial carcinoma
|
sensitive
|
Retifanlimab
|
Guideline |
Actionable |
Zynyz (retifanlimab) is included in guidelines as a second-line or subsequent-line therapy (category 2B) for patients with high microsatellite instability (MSI-H) or mismatch repair-deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
|
RET fusion
|
lung non-small cell carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as a preferred first-line therapy (category 1) for patients with advanced or metastatic non-small cell lung cancer harboring a RET fusion (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Obinutuzumab + Venetoclax
|
Guideline |
Actionable |
The combination of Venclexta (venetoclax) and Gazyva (obinutuzumab) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
anaplastic astrocytoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of grade III astrocytomas (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
extrahepatic bile duct carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as primary and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring an NTRK fusion, including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Duvelisib
|
Guideline |
Actionable |
Copiktra (duvelisib) is included in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
MLH1 negative
|
penile cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as subsequent-line systemic therapy for metastatic/recurrent penile cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
ovary epithelial cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
FLT3 exon22
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Idarubicin and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
FLT3 exon14
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with Hurthle cell thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
|
BTK C481S
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
resistant
|
Zanubrutinib
|
Guideline |
Actionable |
Brukinsa (zanubrutinib) is not indicated for use in patients with Imbruvica (ibrutinib)-refractory chronic lymphocytic leukemia/small lymphocytic lymphoma harboring BTK C481S (NCCN.org).
|
detail...
|
|
APC mutant
|
small intestine adenocarcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Familial adenomatous polyposis results from germline mutations in the APC gene, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
small intestine adenocarcinoma
|
sensitive
|
Encorafenib + Fluorouracil + Leucovorin + Oxaliplatin + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) and FOLFOX is included in guidelines as initial or subsequent-line therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
RET fusion
|
gallbladder cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as primary (category 2B) and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including gallbladder cancer (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
esophagus adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
RET S891X
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET S891X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
MSH6 negative
|
prostate adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with advanced or metastatic prostate adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 loss TP53 mut
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
The presence of a TP53 mutation combined with TP53 loss is associated with shorter progression-free survival and overall survival with chemoimmunotherapy, fixed duration venetoclax-based regimens, and covalent BTK inhibitors in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
neuroendocrine tumor
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms harboring an NTRK fusion who have progressed on a prior NTRK-targeted therapy (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Rituximab + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Rituxan (rituximab) is included in guidelines as second-line or subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib
|
Guideline |
Actionable |
Imbruvica (ibrutinib) is included in guidelines as first-line therapy and second-line or subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
|
NRAS exon2
|
rectum cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is not indicated for use in rectum cancer patients with NRAS exon 2 mutations (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
appendix adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines (category 2A) as second-line or subsequent therapy for patients with advanced or metastatic appendiceal adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
soft tissue sarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for soft tissue sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), regardless of sarcoma sub-type (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Venetoclax + Zanubrutinib
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Brukinsa (zanubrutinib) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
|
MLH1 mutant
|
rectum cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Penpulimab-kcqx
|
Guideline |
Actionable |
Penpulimab-kcqx (AK105) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, PMS2, or MLH1 expression by IHC) (NCCN.org).
|
detail...
|
|
RET V804M RET S904C
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Compound germline RET V804M and S904C mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
oropharynx cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oropharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
BRAF fusion
|
pilocytic astrocytoma
|
sensitive
|
Tovorafenib
|
Guideline |
Actionable |
Ojemda (tovorafenib) is included in guidelines (category 2A) for patients with recurrent or progressive circumscribed glioma, including pilocytic astrocytoma, harboring BRAF fusions, rearrangements, or BRAF V600 mutations (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
pleomorphic xanthoastrocytoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines (category 2B) for patients with recurrent or progressive circumscribed glioma, including pleomorphic xanthoastrocytoma, harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as first-line or subsequent therapy for patients with metastatic ampullary adenocarcinoma harboring NTRK fusions (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Idelalisib
|
Guideline |
Actionable |
Zydelig (idelalisib) is included in the guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
skin melanoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) therapy is included in guidelines for patients with metastatic or unresectable cutaneous melanoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
RET V804M RET Y806C
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Compound germline RET V804M and Y806C mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
small intestine adenocarcinoma
|
sensitive
|
Cetuximab + Encorafenib + Fluorouracil + Leucovorin + Oxaliplatin
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) and FOLFOX is included in guidelines as initial or subsequent-line therapy (category 2A) therapy for patients with advanced or metastatic small bowel adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
vulva adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic vulvar adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
RET E768X
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET E768X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
rectum cancer
|
sensitive
|
Cetuximab + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) is included in guidelines as primary or subsequent therapy for patients with rectal cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
MLH1 mutant
|
colon cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org).
|
detail...
|
|
RET fusion
|
cervical cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with recurrent or metastatic cervical cancer harboring a RET fusion (NCCN.org).
|
detail...
|
|
PIK3CA act mut
|
colon cancer
|
sensitive
|
Aspirin
|
Guideline |
Actionable |
Aspirin is included in guidelines as adjuvant therapy (category 2A) for patients with advanced colon cancer harboring PIK3CA mutations, including hotspot mutations in exon 10 (reported as exon 9) and exon 21 (reported as exon 20), and other somatic mutations affecting the PI3K pathway genes PIK3R1 or PTEN (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
endometrial carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as a second-line or subsequent-line therapy for patients with recurrent endometrial carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
small intestine adenocarcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines for patients with advanced or metastatic small bowel adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
breast cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) therapy is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Avelumab
|
Guideline |
Actionable |
Bavencio (avelumab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, MLH1, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
PIK3CA mutant
|
Erdheim-Chester disease
|
sensitive
|
Cobimetinib
|
Guideline |
Actionable |
Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).
|
detail...
|
|
RET inact mut
|
pheochromocytoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline pathogenic RET mutations result in multiple endocrine neoplasia type 2 (MEN2), which is associated with increased risk of developing pheochromocytoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
IDH2 act mut
|
astrocytoma, IDH-mutant, grade 4
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive (category 2B) WHO grade 4 astrocytoma harboring an IDH2 activating mutation (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
skin melanoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) therapy is included in guidelines for patients with metastatic or unresectable cutaneous melanoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
lung non-small cell carcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines as a first-line or subsequent therapy for advanced or metastatic non-small cell lung cancer patients harboring BRAF V600E mutations (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
anaplastic astrocytoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring an NTRK fusion, including anaplastic astrocytoma (NCCN.org).
|
detail...
|
|
FGFR1 rearrange
|
myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
|
sensitive
|
Ponatinib
|
Guideline |
Actionable |
Iclusig (ponatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an FGFR1 rearrangement (NCCN.org).
|
detail...
|
|
FGFR2 rearrange
|
cholangiocarcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy for patients with cholangiocarcinoma harboring FGFR2 fusions or rearrangements (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
small intestine adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with metastatic small bowel adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Durvalumab
|
Guideline |
Actionable |
Imfinzi (durvalumab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, MLH1, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Methylprednisolone + Rituximab
|
Guideline |
Actionable |
Artisone-Wyeth (methylprednisolone) combined with Rituxan (rituximab) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation and for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Durvalumab
|
Guideline |
Actionable |
Monotherapy with immune checkpoint inhibitors, including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab), is not indicated for use as initial systemic therapy or subsequent therapy in non-small cell lung cancer patients harboring oncogenic drivers, including ALK rearrangement (NCCN.org).
|
detail...
|
|
MSH6 mutant
|
stomach cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).
|
detail...
|
|
ABL1 rearrange
|
myeloid neoplasm
|
sensitive
|
Dasatinib
|
Guideline |
Actionable |
Sprycel (dasatinib) is included in guidelines as a preferred regimen for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a ABL1 rearrangement (NCCN.org).
|
detail...
|
|
MSH6 negative
|
Ewing sarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic Ewing sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
small intestine adenocarcinoma
|
sensitive
|
Encorafenib + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
extrahepatic bile duct carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as primary and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring an NTRK fusion, including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
FGFR1 fusion
|
breast cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (category 2B) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with inferior prognosis in acute myeloid leukemia patients with normal karyotype (NCCN.org).
|
detail...
|
|
FGFR3 act mut
|
bladder urothelial carcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines (category 1 for patients who have already received platinum and a checkpoint inhibitor) as second-line or subsequent-line therapy for patients with advanced or metastatic urothelial carcinoma harboring susceptible FGFR3 alterations (NCCN.org).
|
detail...
|
|
PIK3CA exon10
|
rectum cancer
|
sensitive
|
Aspirin
|
Guideline |
Actionable |
Aspirin is included in guidelines as adjuvant therapy (category 2A) for patients with advanced rectal cancer harboring PIK3CA exon 10 (reported as exon 9) mutations, including hotspot mutations occurring at E542, E545, and Q546, and other somatic mutations affecting the PI3K pathway genes PIK3CA, PIK3R1, or PTEN (NCCN.org).
|
detail...
|
|
JAK2 V617F
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK2 V617F is associated with intermediate prognosis and higher risk of thrombosis when compared to the presence of CALR mutations in patients with primary myelofibrosis (NCCN.org).
|
detail...
|
|
MLH1 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) and Yervoy (ipilimumab) combination therapy is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Toripalimab-tpzi
|
Guideline |
Actionable |
Loqtorz (toripalimab-tpzi) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
malignant astrocytoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of grade II and grade III astrocytomas (NCCN.org).
|
detail...
|
|
FGFR2 act mut
|
lung non-small cell carcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org).
|
detail...
|
|
FGFR3 act mut
|
transitional cell carcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines (category 1 for patients who have already received platinum and a checkpoint inhibitor) as second-line or subsequent-line therapy for patients with advanced or metastatic urothelial carcinoma harboring susceptible FGFR3 alterations (NCCN.org).
|
detail...
|
|
MLH1 mutant
|
small intestine adenocarcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
NRAS mutant
|
skin melanoma
|
sensitive
|
Binimetinib
|
Guideline |
Actionable |
Mektovi (binimetinib) is included in guidelines as second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring an NRAS mutation (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
esophagus squamous cell carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal adenocarcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
|
FGFR2 act mut
|
glioblastoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines (category 2B) for patients with recurrent or progressive glioblastoma harboring FGFR mutations or fusions with no alternative treatment options (NCCN.org).
|
detail...
|
|
FLT3 exon16
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Obinutuzumab + Venetoclax
|
Guideline |
Actionable |
The combination of Venclexta (venetoclax) and Gazyva (obinutuzumab) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
|
ALK rearrange ALK L1196M
|
lung non-small cell carcinoma
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer harboring ALK L1196M (NCCN.org).
|
detail...
|
|
MLH1 mutant
|
endometrial carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org).
|
detail...
|
|
RET C620X
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET C620X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
appendix adenocarcinoma
|
sensitive
|
Toripalimab-tpzi
|
Guideline |
Actionable |
Loqtorz (toripalimab-tpzi) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
RET fusion
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma harboring RET fusions (NCCN.org).
|
detail...
|
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
RET fusion
|
stomach cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer harboring RET fusion (NCCN.org). (NCCN.org).
|
detail...
|
|
FLT3 rearrange
|
myeloid neoplasm
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).
|
detail...
|
|
FGFR1 fusion
|
supraglottis cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with supraglottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
MLH1 negative
|
vulva squamous cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva squamous cell carcinoma (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
stomach cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer harboring an NTRK2 fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with adenocarcinoma of unknown primary harboring NTRK1 fusions (NCCN.org).
|
detail...
|
|
FGFR1 fusion
|
lung non-small cell carcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
predicted - sensitive
|
Zanubrutinib
|
Guideline |
Actionable |
Brukinsa (zanubrutinib) is included in guidelines as first-line therapy (category 2A) and second line therapy or subsequent therapy (category 1) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Cemiplimab
|
Guideline |
Actionable |
Libtayo (cemiplimab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Durvalumab + Tremelimumab
|
Guideline |
Actionable |
Imfinzi (durvalumab), in combination with Imjudo (tremelimumab), is included in guidelines as neoadjuvant therapy for patients with gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
breast cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600E, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib + Lisocabtagene maraleucel
|
Guideline |
Actionable |
Breyanzi (lisocabtagene maraleucel) in combination with Imbruvica (ibrutinib) is included in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
papillary thyroid carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with papillary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
|
MLH1 inact mut
|
prostate cancer
|
sensitive
|
Enzalutamide + Talazoparib
|
Guideline |
Actionable |
Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic MLH1 mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in the guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
anaplastic astrocytoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring an NTRK fusion, including anaplastic astrocytoma (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
vulva squamous cell carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic vulvar squamous cell carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
CDKN2A mutant
|
skin melanoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline CDKN2A mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org).
|
detail...
|
|
FLT3 exon19
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
FGFR1 act mut
|
supraglottis cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with supraglottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
PIK3CA mutant
|
Erdheim-Chester disease
|
sensitive
|
Sirolimus
|
Guideline |
Actionable |
Rapamune (sirolimus) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring PIK3CA mutations (NCCN.org).
|
detail...
|
|
FGFR3 fusion
|
oropharynx cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oropharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
MSH6 negative
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
anaplastic oligodendroglioma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring an NTRK fusion, including anaplastic oligodendroglioma (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
follicular thyroid carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
FLT3 exon17
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
FGFR2 act mut
|
oral cavity cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oral cavity cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
PDGFRB rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
PDGFRB rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
FGFR2 act mut
|
oropharynx cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oropharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
RET fusion
|
medullary thyroid carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as a systemic therapy for patients with medullary thyroid carcinoma harboring pathogenic RET variants, including RET fusions (category 2B) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Atezolizumab + Fluorouracil + Leucovorin + Oxaliplatin
|
Guideline |
Actionable |
Tecentriq (atezolizumab) in combination with Adrucil (fluorouracil), Wellcovorin (leucovorin), and Eloxatin (oxaliplatin) is included in guidelines as adjuvant therapy (category 2A) for patients with small bowel adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
ALK rearrange
|
anaplastic large cell lymphoma
|
sensitive
|
Ceritinib
|
Guideline |
Actionable |
Zykadia (ceritinib) is included in guidelines as initial, second-line, and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org).
|
detail...
|
|
RET fusion
|
soft tissue sarcoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as first-line therapy for patients with advanced or metastatic soft tissue sarcoma harboring RET fusions (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Durvalumab
|
Guideline |
Actionable |
Imfinzi (durvalumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, PMS2, or MLH1 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600E/K
|
skin melanoma
|
sensitive
|
Binimetinib + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Mektovi (binimetinib) is included in guidelines as first-line and second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org).
|
30959471
detail...
|
|
FGFR1 act mut
|
maxillary sinus cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with maxillary sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
vaginal carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for melanoma patients harboring a BRAF V600 mutation, such as BRAF V600K, as neoadjuvant or adjuvant therapy for stage III disease and as systemic therapy for patients with unresectable or metastatic disease (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH2 mutations are associated with inferior leukemia-free survival in patients with myelofibrosis (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
lung non-small cell carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as first-line or subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring an NTRK2 fusion (NCCN.org).
|
detail...
|
|
TP53 mutant
|
mantle cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
TP53 mutations are associated with poor prognosis in patients with mantle cell lymphoma who are treated with conventional therapy, including transplant (NCCN.org).
|
detail...
|
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Taletrectinib
|
Guideline |
Actionable |
Ibtrozi (taletrectinib) is included in guidelines as preferred first-line or subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring a ROS1 rearrangement (NCCN.org).
|
detail...
|
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
esophagus squamous cell carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
RET V804M RET E805K
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Compound germline RET V804M and E805K mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
FLT3 exon18
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Atezolizumab + Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) plus Cotellic (cobimetinib) in combination with an immune checkpoint inhibitor, such as Tecentriq (atezolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation, such as BRAF V600K (NCCN.org).
|
detail...
|
|
ALK fusion
|
Erdheim-Chester disease
|
sensitive
|
Ceritinib
|
Guideline |
Actionable |
Zykadia (ceritinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).
|
detail...
|
|
PTEN negative
|
prostate cancer
|
sensitive
|
Abiraterone + Capivasertib
|
Guideline |
Actionable |
Zytiga (abiraterone) plus Truqap (capivasertib) in combination with androgen deprivation therapy (category 2B) is included in guidelines for select patients with PTEN-deficient (defined as >= 90%) castration-sensitive prostate cancer (NCCN.org).
|
detail...
|
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Durvalumab + Tremelimumab
|
Guideline |
Actionable |
Imfinzi (durvalumab), in combination with Imjudo (tremelimumab, is included in guidelines as neoadjuvant therapy for patients with gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
IDH1 act mut
|
chondrosarcoma
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines as systemic therapy for patients with metastatic, conventional, or dedifferentiated chondrosarcoma harboring an IDH1 activating mutation (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
soft tissue sarcoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is in guidelines for patients with soft tissue sarcoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Obinutuzumab
|
Guideline |
Actionable |
Gazyva (obinutuzumab) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
|
RET fusion
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines (category 2B) for patients with squamous cell carcinoma of unknown primary harboring RET fusions (NCCN.org).
|
detail...
|
|
CBL mutant
|
systemic mastocytosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
CBL mutations are associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org).
|
detail...
|
|
MLH1 negative
|
bone cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a systemic therapy for patients with unresectable or metastatic bone cancer with high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR1 fusion
|
hypopharynx cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hypopharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
uterine corpus sarcoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable uterine sarcoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MLH1 negative
|
supraglottis cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic supraglottic larynx cancer (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
ovary epithelial cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Lisocabtagene maraleucel
|
Guideline |
Actionable |
Breyanzi (lisocabtagene maraleucel) is included in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
CTNNB1 mutant
|
desmoid tumor
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
CTNNB1 mutations aid the diagnosis of desmoid tumor (NCCN.org).
|
detail...
|
|
BRAF V600E
|
rectum cancer
|
sensitive
|
Encorafenib + Fluorouracil + Irinotecan + Leucovorin + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) and FOLFIRI is included in guidelines as a preferred initial therapy (category 2A) for patients with advanced or metastatic rectal cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Cosibelimab
|
Guideline |
Actionable |
Unloxcyt (cosibelimab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 exon15
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
appendix adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines (category 2A) as second-line or subsequent therapy for patients with advanced or metastatic appendiceal adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
cervical cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with recurrent or metastatic cervical cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
small intestine adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with metastatic small bowel adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
follicular thyroid carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
NRAS mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
NRAS mutations are associated with decreased overall survival in patients with primary myelofibrosis (NCCN.org).
|
detail...
|
|
TET2 mutant
|
angioimmunoblastic T-cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
TET2 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
rectum cancer
|
sensitive
|
Capecitabine + Cetuximab + Encorafenib + Oxaliplatin
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) and CAPEOX is included in guidelines as an initial therapy (category 2A) for patients with advanced or metastatic rectal cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
ALK rearrange
|
inflammatory myofibroblastic tumor
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).
|
detail...
|
|
FGFR3 fusion
|
hypopharynx cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hypopharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
BRAF V600E
|
biliary tract cancer
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as subsequent-line therapy for patients with biliary tract cancer harboring BRAF V600E, including intrahepatic cholangiocarcinoma, extrahepatic cholangiocarcinoma, and gallbladder cancer (NCCN.org).
|
detail...
|
|
BRAF V600E
|
follicular thyroid carcinoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines for patients with RAI-refractory follicular thyroid carcinoma harboring BRAF V600E for whom clinical trials or other systemic therapies are not available or appropriate (category 2B) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
rectum cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for advanced or metastatic rectal cancer patients with an NTRK fusion (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
TP53 mutations are associated with a poor prognosis in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
rectum cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for advanced or metastatic rectal cancer patients with an NTRK fusion (NCCN.org).
|
detail...
|
|
PIK3CA mutant
|
Erdheim-Chester disease
|
sensitive
|
Everolimus
|
Guideline |
Actionable |
Afinitor (everolimus) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring PIK3CA mutations (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
lung non-small cell carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as first-line or subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring an NTRK1 fusion (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
anaplastic astrocytoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of grade III astrocytomas (NCCN.org).
|
detail...
|
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as preferred first-line therapy (category 1) and as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Obinutuzumab
|
Guideline |
Actionable |
Gazyva (obinutuzumab) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as a first-line or subsequent therapy for patients with advanced or metastatic ROS1 rearrangement-positive non-small cell lung cancer (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
soft tissue sarcoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is in guidelines for patients with soft tissue sarcoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
PTEN inact mut
|
rectum cancer
|
sensitive
|
Aspirin
|
Guideline |
Actionable |
Aspirin is included in guidelines as adjuvant therapy (category 2A) for patients with advanced rectal cancer harboring inactivating PTEN mutations, including deep deletions, and other somatic mutations affecting the PI3K pathway genes PIK3CA or PIK3R1 (NCCN.org).
|
detail...
|
|
FGFR3 fusion
|
oral cavity cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oral cavity cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
MSH6 negative
|
follicular thyroid carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with follicular thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Tislelizumab
|
Guideline |
Actionable |
Tevimbra (tislelizumab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Tislelizumab
|
Guideline |
Actionable |
Tevimbra (tislelizumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, PMS2, or MLH1 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Toripalimab-tpzi
|
Guideline |
Actionable |
Loqtorz (toripalimab-tpzi) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as first-line therapy (category 2A) for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) and poor (ECOG 3) performance status, and as subsequent therapy (category 2A) for patients with intermediate (ECOG 2) or poor (ECOG 3) performance status (NCCN.org).
|
detail...
|
|
MLH1 negative
|
endometrial carcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
|
NRAS exon3
|
colon cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab) is not indicated for use in colon cancer patients with NRAS exon 3 mutations (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
pancreatic adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as first-line therapy for pancreatic adenocarcinoma patients harboring an NTRK fusion with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), as first-line therapy for patients with metastatic disease with good, intermediate, or poor (ECOG 3) PS, as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease with good, intermediate, or poor PS (NCCN.org).
|
detail...
|
|
MLH1 negative
|
ovary epithelial cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
glioblastoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines (category 2B) for patients with recurrent or progressive glioblastoma harboring FGFR mutations or fusions with no alternative treatment options (NCCN.org).
|
detail...
|
|
PTEN mutant
|
skin melanoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline PTEN mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org).
|
detail...
|
|
ATM inact mut
|
prostate cancer
|
sensitive
|
Olaparib
|
Guideline |
Actionable |
Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in ATM (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as first-line or subsequent therapy for patients with metastatic ampullary adenocarcinoma harboring NTRK fusions (NCCN.org).
|
detail...
|
|
NRAS exon3
|
rectum cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is not indicated for use in rectum cancer patients with NRAS exon 3 mutations (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org).
|
detail...
|
|
BRAF V600E
|
colon cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab), as a monotherapy, is not indicated for use in colon cancer patients with BRAF V600E (NCCN.org).
|
detail...
|
|
ALK rearrange ALK G1202R
|
lung non-small cell carcinoma
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer harboring ALK G1202R (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with squamous cell carcinoma of unknown primary harboring NTRK1 fusions (NCCN.org).
|
detail...
|
|
MLH1 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
mantle cell lymphoma
|
sensitive
|
Obinutuzumab + Venetoclax + Zanubrutinib
|
Guideline |
Actionable |
The combination of Brukinsa (zanubrutinib), Gazyva (obinutuzumab), and Venclexta (venetoclax) is included in guidelines as induction therapy for patients with mantle cell lymphoma harboring a TP53 mutation (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Methylprednisolone + Obinutuzumab
|
Guideline |
Actionable |
Artisone-Wyeth (methylprednisolone) combined with Gazyva (obinutuzumab) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss and for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
MAP2K1 mutant
|
Erdheim-Chester disease
|
sensitive
|
Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).
|
detail...
|
|
NRAS exon4
|
rectum cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab) is not indicated for use in rectum cancer patients with NRAS exon 4 mutations (NCCN.org).
|
detail...
|
|
NRAS mutant
|
Erdheim-Chester disease
|
sensitive
|
Cobimetinib
|
Guideline |
Actionable |
Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).
|
detail...
|
|
NRAS wild-type
|
colon cancer
|
predicted - sensitive
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic colon cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
|
BRAF V600E/K
|
skin melanoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) therapy is included in cutaneous melanoma guidelines for patients with metastatic or unresectable disease harboring a BRAF V600 activating mutation (NCCN.org).
|
detail...
|
|
FLT3 rearrange
|
myeloid neoplasm
|
sensitive
|
Sunitinib
|
Guideline |
Actionable |
Sutent (sunitinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).
|
detail...
|
|
BRAF wild-type
|
rectum cancer
|
predicted - sensitive
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
|
FGFR2 act mut
|
breast cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (category 2B) (NCCN.org).
|
detail...
|
|
FLT3 exon19
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
RET C618X
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET C618X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
rectum cancer
|
sensitive
|
Encorafenib + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines (category 2A) as primary or subsequent therapy for patients with rectal cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
FLT3 exon21
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in cutaneous melanoma guidelines for patients with metastatic or unresectable disease harboring a BRAF V600 activating mutation (NCCN.org).
|
detail...
|
|
MLH1 negative
|
appendix adenocarcinoma
|
sensitive
|
Penpulimab-kcqx
|
Guideline |
Actionable |
Penpulimab-kcqx (AK105) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
ROS1 fusion
|
skin melanoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with ROS1 fusions (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Tislelizumab
|
Guideline |
Actionable |
Tevimbra (tislelizumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as first-line therapy (category 2A) for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) and poor (ECOG 3) performance status, and as subsequent therapy (category 2A) for patients with intermediate (ECOG 2) or poor (ECOG 3) performance status (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
myelodysplastic syndrome
|
sensitive
|
Enasidenib
|
Guideline |
Actionable |
Idhifa (enasidenib) is included in guidelines (category 2A) for patients with myelodysplastic syndrome harboring an IDH2 mutation (NCCN.org).
|
detail...
|
|
FGFR3 act mut
|
lung non-small cell carcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
rectum cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for advanced or metastatic rectal cancer patients with an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
endometrial carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as a second-line or subsequent-line therapy (category 2A) for patients with recurrent endometrial carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
myelodysplastic syndrome
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines for patients with lower-risk (category 2A) or higher-risk (category 2B) relapsed or refractory myelodysplastic syndrome harboring an IDH1 mutation (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
gallbladder cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as primary and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring an NTRK fusion, including gallbladder cancer (NCCN.org).
|
detail...
|
|
BRAF V600E
|
low grade glioma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent or progressive low grade glioma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
MSH6 negative
|
vulva adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva adenocarcinoma (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
anaplastic oligodendroglioma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring an NTRK fusion, including anaplastic oligodendroglioma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with squamous cell carcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
glioblastoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with recurrent glioblastoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
endometrial carcinoma
|
sensitive
|
Tislelizumab
|
Guideline |
Actionable |
Tevimbra (tislelizumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair-deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
|
FGFR2 act mut
|
glottis cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with glottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
FLT3 rearrange
|
myeloid neoplasm
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).
|
detail...
|
|
IDH2 act mut
|
astrocytoma, IDH-mutant, grade 3
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive (category 2B) WHO grade 3 astrocytoma harboring an IDH2 activating mutation or as adjuvant treatment (category 2B) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
breast cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline TP53 mutations result in Li-Fraumeni syndrome, which is associated with increased risk of developing breast cancer (NCCN.org).
|
detail...
|
|
VHL inact mut
|
hemangioblastoma
|
sensitive
|
Belzutifan
|
Guideline |
Actionable |
Welireg (belzutifan) is included in guidelines for patients with Von Hippel-Lindau disease-associated CNS hemangioblastoma that do not require immediate surgery (NCCN.org).
|
detail...
|
|
PDGFRB rearrange
|
chronic myelomonocytic leukemia
|
sensitive
|
Imatinib
|
Guideline |
Actionable |
Gleevec (imatinib) is included in guidelines for patients with chronic myelomonocytic leukemia harboring a PDGFRB rearrangement (NCCN.org).
|
detail...
|
|
PTEN mutant
|
breast cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline PTEN mutations result in Cowden syndrome, which is associated with increased risk of developing breast cancer (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
extrahepatic bile duct carcinoma
|
sensitive
|
Futibatinib
|
Guideline |
Actionable |
Lytgobi (futibatinib) is included in guidelines as subsequent-line therapy (category 2A) for patients with cholangiocarcinoma harboring an FGFR2 fusion or rearrangement (NCCN.org).
|
detail...
|
|
RET C630X
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET C630X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Ensartinib
|
Guideline |
Actionable |
Ensacove (ensartinib) is included in guidelines as preferred first-line therapy (category 1) and as subsequent therapy for patients with ALK-rearranged advanced or metastatic non-small cell lung cancer (NCCN.org).
|
detail...
|
|
IDH2 R172X
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH2 R172X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
|
MSH6 negative
|
pancreatic adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line therapy for mismatch repair-deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) pancreatic adenocarcinoma patients with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), with metastatic disease with good, intermediate, or poor (ECOG 3) PS, and as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
stomach cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer harboring an NTRK2 fusion (NCCN.org).
|
detail...
|
|
IDH1 act mut
|
astrocytoma, IDH-mutant, grade 4
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive (category 2B) WHO grade 4 astrocytoma harboring an IDH1 activating mutation (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
acute myeloid leukemia
|
sensitive
|
Enasidenib
|
Guideline |
Actionable |
Idhifa (enasidenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
extrahepatic bile duct carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as primary and subsequent-line therapy (category 2A) for patients with unresectable or metastatic biliary tract cancer harboring NTRK fusions, including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Acalabrutinib + Obinutuzumab + Venetoclax
|
Guideline |
Actionable |
The combination of Venclexta (venetoclax), Gazyva (obinutuzumab), and Calquence (acalabrutinib) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
|
BRAF V600E
|
pilocytic astrocytoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as an adjuvant treatment for patients with pilocytic astrocytoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
IDH2 act mut
|
astrocytoma, IDH-mutant, grade 2
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines for patients with WHO grade 2 astrocytoma harboring an IDH2 activating mutation with no residual/measurable disease or as adjuvant therapy after surgery/biopsy (category 1) and for patients with recurrent or progressive disease (category 2A) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
vulva adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva adenocarcinoma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for cutaneous melanoma patients harboring a BRAF V600 mutation, such as BRAF V600E, as neoadjuvant or adjuvant therapy for stage III disease and as systemic therapy for patients with unresectable or metastatic disease (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
esophagus adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Azacitidine
|
Guideline |
Actionable |
Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Tislelizumab
|
Guideline |
Actionable |
Tevimbra (tislelizumab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, PMS2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
low grade glioma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent or progressive low grade glioma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, PMS2, or MLH1 expression by IHC) (NCCN.org).
|
detail...
|
|
ALK fusion
|
Erdheim-Chester disease
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as primary and subsequent-line therapy (category 2A) for patients with unresectable or metastatic biliary tract cancer harboring NTRK fusions, including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as primary and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring an NTRK fusion, including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
FLT3 exon23
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
FGFR3 act mut
|
salivary gland cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring FGFR mutations or fusions (category 2B) who received prior systemic therapy and have no alternative systemic therapy available (NCCN.org).
|
detail...
|
|
RET fusion
|
esophagus squamous cell carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced or metastatic gastric cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
papillary thyroid carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with RAI-refractory papillary thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
hepatocellular carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as subsequent-line therapy for patients with hepatocellular carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
supraglottis cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic supraglottic larynx cancer (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Acalabrutinib + Obinutuzumab + Venetoclax
|
Guideline |
Actionable |
The combination of Venclexta (venetoclax), Gazyva (obinutuzumab), and Calquence (acalabrutinib) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
glottis cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with glottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
MSH6 negative
|
appendix adenocarcinoma
|
sensitive
|
Cemiplimab
|
Guideline |
Actionable |
Libtayo (cemiplimab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
salivary gland cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring FGFR mutations or fusions (category 2B) who received prior systemic therapy and have no alternative systemic therapy available (NCCN.org).
|
detail...
|
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
oligodendroglioma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org).
|
detail...
|
|
BRAF V600E
|
rectum cancer
|
sensitive
|
Cetuximab + Encorafenib + Fluorouracil + Irinotecan + Leucovorin
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) and FOLFIRI is included in guidelines as a preferred initial therapy (category 2A) for patients with advanced or metastatic rectal cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
RET M918X
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET M918X mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
Erdheim-Chester disease
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring BRAF V600E (NCCN.org).
|
detail...
|
|
TP53 mutant
|
mantle cell lymphoma
|
sensitive
|
Cyclophosphamide + Cytarabine + Dexamethasone + Doxorubicin + Prednisone + Rituximab + Vincristine Sulfate + Zanubrutinib
|
Guideline |
Actionable |
The combination of Brukinsa (zanubrutinib) plus RCHOP alternating with Rituxan (rituximab), Adexone (dexamethasone), Cytosar-U (cytarabine) plus a platinum is included in guidelines as induction therapy for patients with mantle cell lymphoma harboring a TP53 mutation (NCCN.org).
|
detail...
|
|
IDH1 act mut
|
oligodendroglioma
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines for patients with WHO grade 2 1p19q codeleted oligodendroglioma harboring an IDH1 activating mutation with residual/measurable disease or as adjuvant treatment after surgery/biopsy or recurrent or progressive disease and WHO grade 3 1p19q codeleted oligodendroglioma with recurrent or progressive disease or as adjuvant treatment (category 2B) (NCCN.org)
|
detail...
|
|
NRAS exon2
|
colon cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is not indicated for use in colon cancer patients with NRAS exon 2 mutations (NCCN.org).
|
detail...
|
|
BRAF mutant
|
splenic marginal zone lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
BRAF mutations aid in the diagnosis of splenic marginal zone lymphoma (NCCN.org).
|
detail...
|
|
FGFR1 act mut
|
oral cavity cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oral cavity cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
FGFR3 fusion
|
glioblastoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines (category 2B) for patients with recurrent or progressive glioblastoma harboring FGFR mutations or fusions with no alternative treatment options (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
glioblastoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with recurrent glioblastoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
RET fusion
|
extrahepatic bile duct carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as primary (category 2B) and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
rectum cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab), as a monotherapy, is not indicated for use in rectum cancer patients with BRAF V600E (NCCN.org).
|
detail...
|
|
ATM mutant
|
ovarian cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline ATM mutations are associated with increased risk of developing ovarian cancer (NCCN.org).
|
detail...
|
|
RET fusion
|
Erdheim-Chester disease
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring RET fusions (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
high grade glioma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring NTRK fusions, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).
|
detail...
|
|
FLT3 exon21
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
MLH1 mutant
|
adrenocortical carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing adrenocortical carcinoma (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Dabrafenib + Pembrolizumab + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) plus Mekinist (trametinib) in combination with an immune checkpoint inhibitor, such as Keytruda (pembrolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation, such as BRAF V600K (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
hepatocellular carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as subsequent-line therapy for patients with hepatocellular carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
pleomorphic xanthoastrocytoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as an adjuvant treatment for patients with pleomorphic xanthoastrocytoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
breast cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
small intestine adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MLH1 negative
|
appendix adenocarcinoma
|
sensitive
|
Toripalimab-tpzi
|
Guideline |
Actionable |
Loqtorz (toripalimab-tpzi) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
salivary gland cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with NTRK1 fusion-positive salivary gland tumors with distant metastases (NCCN.org).
|
detail...
|
|
ALK fusion
|
Erdheim-Chester disease
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR3 act mut
|
glioblastoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines (category 2B) for patients with recurrent or progressive glioblastoma harboring FGFR mutations or fusions with no alternative treatment options (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
soft tissue sarcoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is in guidelines for patients with soft tissue sarcoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced or metastatic gastric cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR2 act mut
|
maxillary sinus cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with maxillary sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Atezolizumab + Fluorouracil + Leucovorin + Oxaliplatin
|
Guideline |
Actionable |
Tecentriq (atezolizumab) in combination with Adrucil (fluorouracil), Wellcovorin (leucovorin), and Eloxatin (oxaliplatin) is included in guidelines as adjuvant therapy for patients with colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Lenalidomide + Rituximab
|
Guideline |
Actionable |
Revlimid (lenalidomide) combined with Rituxan (rituximab) is included in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
KIT act mut
|
skin melanoma
|
sensitive
|
Dasatinib
|
Guideline |
Actionable |
Sprycel (dasatinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
neuroendocrine tumor
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms harboring an NTRK fusion who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Toripalimab-tpzi
|
Guideline |
Actionable |
Loqtorz (toripalimab-tpzi) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, PMS2, or MLH1 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
anaplastic thyroid carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as neoadjuvant treatment for anaplastic thyroid carcinoma patients harboring NTRK fusions with stage IVa or IVb borderline resectable disease, and as a preferred systemic therapy for those with metastatic disease (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as first-line or subsequent therapy for patients with metastatic ampullary adenocarcinoma harboring NTRK fusions (NCCN.org).
|
detail...
|
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600K, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).
|
detail...
|
|
ABL1 rearrange
|
myeloid neoplasm
|
sensitive
|
Asciminib
|
Guideline |
Actionable |
Scemblix (asciminib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an ABL1 rearrangement (NCCN.org).
|
detail...
|
|
MLH1 negative
|
soft tissue sarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for soft tissue sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), regardless of sarcoma sub-type (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
vulva squamous cell carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic vulvar squamous cell carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
IDH1 wild-type
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
IDH1 wild-type is associated with increased risk of aggressive disease in patients with grade II or III infiltrative gliomas (NCCN.org).
|
detail...
|
|
MSH6 negative
|
appendix adenocarcinoma
|
sensitive
|
Retifanlimab
|
Guideline |
Actionable |
Zynyz (retifanlimab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 exon16
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
stomach cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
KMT2A rearrange
|
acute myeloid leukemia
|
sensitive
|
Revumenib
|
Guideline |
Actionable |
Revuforj (revumenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a KMT2A rearrangement (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with squamous cell carcinoma of unknown primary harboring NTRK2 fusions (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, PMS2, or MLH1 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
rectum cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for advanced or metastatic rectal cancer patients with an NTRK fusion (NCCN.org).
|
detail...
|
|
FLT3 mutant
|
acute myeloid leukemia
|
sensitive
|
Decitabine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring a FLT3 mutation (NCCN.org).
|
detail...
|
|
NRAS G13X
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
NRAS G13X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
hepatocellular carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with hepatocellular carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
ganglioglioma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as an adjuvant treatment for patients with ganglioglioma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
FLT3 exon21
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Idarubicin and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Imbruvica (ibrutinib) is included in guidelines as first-line (category 2A), second-line, or third-line therapy (category 2B) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
|
KMT2A rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
KMT2A rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines (category 1) for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
RET fusion
|
small intestine adenocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with metastatic small bowel adenocarcinoma with RET fusion (NCCN.org).
|
detail...
|
|
VHL inact mut
|
renal cell carcinoma
|
sensitive
|
Pazopanib
|
Guideline |
Actionable |
Votrient (pazopanib) is included in guidelines as systemic therapy for patients with renal cell carcinoma associated with Von Hippel-Lindau disease (NCCN.org).
|
detail...
|
|
MLH1 negative
|
endometrial carcinoma
|
sensitive
|
Retifanlimab
|
Guideline |
Actionable |
Zynyz (retifanlimab) is included in guidelines as a second-line or subsequent-line therapy (category 2B) for patients with high microsatellite instability (MSI-H) or mismatch repair-deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
|
ROS1 fusion
|
skin melanoma
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with ROS1 fusions (NCCN.org).
|
detail...
|
|
BRAF V600E
|
ganglioglioma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines as an adjuvant treatment for patients with ganglioglioma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
RET fusion
|
follicular thyroid carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with RAI-refractory follicular thyroid carcinoma harboring a RET fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
PTEN del
|
colon cancer
|
sensitive
|
Aspirin
|
Guideline |
Actionable |
Aspirin is included in guidelines as adjuvant therapy (category 2A) for patients with advanced colon cancer harboring deep PTEN deletions and other somatic mutations affecting the PI3K pathway genes PIK3CA, PIK3R1, or PTEN (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
gastrointestinal stromal tumor
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as neoadjuvant therapy (category 2B) for patients with resectable disease and as first-line or second-line systemic therapy (category 2A) for patients with unresectable or metastatic gastrointestinal stromal tumor (GIST) harboring NTRK fusions (NCCN.org).
|
detail...
|
|
NRAS mutant
|
Erdheim-Chester disease
|
sensitive
|
Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).
|
detail...
|
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR1 act mut
|
hypopharynx cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hypopharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Tislelizumab
|
Guideline |
Actionable |
Tevimbra (tislelizumab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
PIK3CA mutant
|
Erdheim-Chester disease
|
sensitive
|
Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
acute myeloid leukemia
|
sensitive
|
Azacitidine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
cervical cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with recurrent or metastatic cervical cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Dabrafenib + Pembrolizumab + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) plus Mekinist (trametinib) in combination with an immune checkpoint inhibitor, such as Keytruda (pembrolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation, such as BRAF V600E (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
endometrial carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as a second-line or subsequent-line therapy for patients with recurrent endometrial carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
DNMT3A mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
DNMT3A mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
vaginal carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma harboring an NTRK fusion who are naive to prior NTRK targeted therapy or have progressed on prior NTRK therapy (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
anaplastic thyroid carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as neoadjuvant treatment for anaplastic thyroid carcinoma patients harboring NTRK fusions with stage IVa or IVb borderline resectable disease, and as a preferred systemic therapy for those with metastatic disease (NCCN.org).
|
detail...
|
|
FLT3 rearrange
|
myeloid neoplasm
|
sensitive
|
Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, PMS2, or MLH1 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 exon17
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
BTK C481S
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
resistant
|
Acalabrutinib
|
Guideline |
Actionable |
Calquence (acalabrutinib) is not indicated for use in patients with Imbruvica (ibrutinib)-refractory chronic lymphocytic leukemia/small lymphocytic lymphoma harboring BTK C481S (NCCN.org).
|
detail...
|
|
MSH6 negative
|
hypopharynx cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic hypopharynx cancer (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
appendix adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines (category 2A) as second-line or subsequent therapy for patients with advanced or metastatic appendiceal adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
myelodysplastic syndrome
|
sensitive
|
Olutasidenib
|
Guideline |
Actionable |
Rezlidhia (olutasidenib) is included in guidelines (category 2B) for patients with higher-risk myelodysplastic syndrome harboring an IDH1 mutation (NCCN.org).
|
detail...
|
|
BRAF V600E
|
rectum cancer
|
sensitive
|
Encorafenib + Fluorouracil + Leucovorin + Oxaliplatin + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) and FOLFOX is included in guidelines as a preferred initial therapy (category 2A) for patients with advanced or metastatic rectal cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
RET A883X
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET A883X mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing medullary thyroid carcinoma (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
MLH1 negative
|
appendix adenocarcinoma
|
sensitive
|
Tislelizumab
|
Guideline |
Actionable |
Tevimbra (tislelizumab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
PIK3CA exon21
|
rectum cancer
|
sensitive
|
Aspirin
|
Guideline |
Actionable |
Aspirin is included in guidelines as adjuvant therapy (category 2A) for patients with advanced rectal cancer harboring PIK3CA exon 21 (reported as exon 20) mutations, including hotspot mutations occurring at Y1021, M1043, N1044, and H1047, and other somatic mutations affecting the PI3K pathway genes PIK3CA, PIK3R1, or PTEN (NCCN.org).
|
detail...
|
|
VHL inact mut
|
clear cell renal cell carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline inactivating mutations in VHL result in von Hippel-Lindau (VHL) syndrome, which is associated with increased risk of developing clear cell renal cell carcinoma (NCCN.org).
|
detail...
|
|
ROS1 rearrange ROS1 G2032R
|
lung non-small cell carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as a subsequent therapy for patients with ROS1 rearranged non-small cell lung cancer harboring ROS1 G2032R (NCCN.org).
|
detail...
|
|
FLT3 mutant
|
acute myeloid leukemia
|
sensitive
|
Azacitidine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring a FLT3 mutation (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
vulva squamous cell carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic vulvar squamous cell carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
gastrointestinal stromal tumor
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as neoadjuvant therapy for patients with resectable disease and as first-line systemic therapy for patients with unresectable or metastatic gastrointestinal stromal tumor (GIST) harboring NTRK fusions (NCCN.org).
|
detail...
|
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Azacitidine + Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) in combination with Vidaza (azacitidine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Cemiplimab
|
Guideline |
Actionable |
Libtayo (cemiplimab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
polycythemia vera
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH1 mutations are associated with inferior overall survival in patients with polycythemia vera (NCCN.org).
|
detail...
|
|
FGFR1 act mut
|
glottis cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with glottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Tislelizumab
|
Guideline |
Actionable |
Tevimbra (tislelizumab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR1 fusion
|
glioblastoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines (category 2B) for patients with recurrent or progressive glioblastoma harboring FGFR mutations or fusions with no alternative treatment options (NCCN.org).
|
detail...
|
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Atezolizumab
|
Guideline |
Actionable |
Tecentriq (atezolizumab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
pilocytic astrocytoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines (category 2B) for patients with recurrent or progressive circumscribed glioma, including pilocytic astrocytoma, harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal adenocarcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
|
MLH1 negative
|
maxillary sinus cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic maxillary sinus cancer (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
follicular thyroid carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
MSH6 negative
|
penile cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as subsequent-line systemic therapy for metastatic/recurrent penile cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
extrahepatic bile duct carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as primary and subsequent-line therapy (category 2A) for patients with unresectable or metastatic biliary tract cancer harboring NTRK fusions, including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
papillary thyroid carcinoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) is included in guidelines for patients with RAI-refractory papillary thyroid carcinoma harboring BRAF V600E for whom clinical trials or other systemic therapies are not available or appropriate (category 2B) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
lung non-small cell carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as first-line or subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring an NTRK2 fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
appendix adenocarcinoma
|
sensitive
|
Encorafenib + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
cervical cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with recurrent or metastatic cervical cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Atezolizumab + Capecitabine + Oxaliplatin
|
Guideline |
Actionable |
Tecentriq (atezolizumab) in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as adjuvant therapy for patients with colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
VHL inact mut
|
islet cell tumor
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline inactivating mutations in VHL result in von Hippel-Lindau (VHL) syndrome, which is associated with increased risk of developing pancreatic neuroendocrine tumors (NCCN.org).
|
detail...
|
|
FLT3 exon20
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
FLT3 exon18
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
DNMT3A mutant
|
angioimmunoblastic T-cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
DNMT3A mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with squamous cell carcinoma of unknown primary harboring NTRK2 fusions (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Azacitidine + Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) in combination with Vidaza (azacitidine) is included in guidelines (category 1) for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
|
BRAF V600E
|
lung non-small cell carcinoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines as a first-line therapy for advanced or metastatic non-small cell lung cancer patients harboring BRAF V600E mutations who can not tolerate the combination of Mekinist (trametinib) and Tafinlar (dabrafenib) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
hypopharynx cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic hypopharynx cancer (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Atezolizumab
|
Guideline |
Actionable |
Tecentriq (atezolizumab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR2 act mut
|
ethmoid sinus cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with ethmoid sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
RET fusion
|
colon cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with metastatic colon cancer harboring RET fusions (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
ethmoid sinus cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with ethmoid sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Dabrafenib + Pembrolizumab + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) plus Mekinist (trametinib) in combination with an immune checkpoint inhibitor, such as Keytruda (pembrolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation (NCCN.org).
|
detail...
|
|
MSH6 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FGFR1 act mut
|
salivary gland cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring FGFR mutations or fusions (category 2B) who received prior systemic therapy and have no alternative systemic therapy available (NCCN.org).
|
detail...
|
|
BRAF L597X
|
melanoma
|
sensitive
|
Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with BRAF L597 mutations (NCCN.org).
|
detail...
|
|
JAK2 rearrange
|
myeloid neoplasm
|
sensitive
|
Fedratinib
|
Guideline |
Actionable |
Inrebic (fedratinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a JAK2 rearrangement (NCCN.org).
|
detail...
|
|
BRAF V600E
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
gastrointestinal stromal tumor
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as neoadjuvant therapy for patients with resectable disease and as first-line systemic therapy for patients with unresectable or metastatic gastrointestinal stromal tumor (GIST) harboring NTRK fusions (NCCN.org).
|
detail...
|
|
FLT3 exon18
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NRAS exon4
|
rectum cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is not indicated for use in rectum cancer patients with NRAS exon 4 mutations (NCCN.org).
|
detail...
|
|
BRAF V600E
|
pilocytic astrocytoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines as an adjuvant treatment for patients with pilocytic astrocytoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
vulva adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic vulvar adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
colon cancer
|
sensitive
|
Encorafenib + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines (category 2A) as primary or subsequent therapy for patients with colon cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
BRAF fusion
|
pilocytic astrocytoma
|
sensitive
|
Selumetinib
|
Guideline |
Actionable |
Koselugo (selumetinib) is included in guidelines for patients with recurrent or progressive pilocytic astrocytoma harboring a BRAF fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
glioblastoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent glioblastoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
glioblastoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines (category 2B) for patients with recurrent glioblastoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
hepatocellular carcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as subsequent-line therapy for patients with hepatocellular carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
KMT2A rearrange
|
T-cell acute lymphoblastic leukemia
|
sensitive
|
Revumenib
|
Guideline |
Actionable |
Revuforj (revumenib) is included in guidelines for patients with relapsed or refractory T-cell acute lymphoblastic leukemia harboring a KMT2A rearrangement (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Methylprednisolone + Rituximab
|
Guideline |
Actionable |
Artisone-Wyeth (methylprednisolone) combined with Rituxan (rituximab) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss and for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (NCCN.org).
|
detail...
|
|
MLH1 negative
|
follicular thyroid carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with follicular thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
|
IDH2 act mut
|
oligodendroglioma
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines for patients with WHO grade 2 1p19q codeleted oligodendroglioma with residual/measurable disease after surgery/biopsy (category 1) or recurrent or progressive disease and WHO grade 3 1p19q codeleted oligodendroglioma with recurrent or progressive disease or as adjuvant treatment (category 2B) harboring an IDH2 activating mutation (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
salivary gland cancer
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with NTRK1 fusion-positive salivary gland tumors with distant metastasis (NCCN.org).
|
detail...
|
|
ALK rearrange
|
high grade glioma
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring ALK rearrangement, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).
|
detail...
|
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
high grade glioma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring NTRK fusions, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
breast cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) therapy is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring BRAF V600E who have progressed on therapy and have no further treatment options (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
papillary thyroid carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with RAI-refractory papillary thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
FGFR3 act mut
|
ethmoid sinus cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with ethmoid sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
low grade glioma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with recurrent or progressive low grade glioma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MLH1 negative
|
ovarian germ cell cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as recurrence therapy for patients with malignant ovarian germ cell tumors with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MAP2K1 mutant
|
Erdheim-Chester disease
|
sensitive
|
Cobimetinib
|
Guideline |
Actionable |
Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).
|
detail...
|
|
NRAS exon2
|
colon cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab) is not indicated for use in colon cancer patients with NRAS exon 2 mutations (NCCN.org).
|
detail...
|
|
FGFR3 act mut
|
breast cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (category 2B) (NCCN.org).
|
detail...
|
|
MSH6 mutant
|
colon cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with RAI-refractory oncocytic thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
ABL1 rearrange
|
myeloid neoplasm
|
sensitive
|
Bosutinib
|
Guideline |
Actionable |
Bosulif (bosutinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an ABL1 rearrangement (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
esophagus adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with an NTRK fusion (NCCN.org).
|
detail...
|
|
FGFR1 fusion
|
ethmoid sinus cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with ethmoid sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).
|
detail...
|
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
angioimmunoblastic T-cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org).
|
detail...
|
|
IDH2 mutant
|
acute myeloid leukemia
|
sensitive
|
Azacitidine + Enasidenib
|
Guideline |
Actionable |
Idhifa (enasidenib) in combination with Vidaza (azacitidine) is included in guidelines (category 2B) for patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).
|
detail...
|
|
MLH1 negative
|
appendix adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
ABL1 rearrange
|
myeloid neoplasm
|
sensitive
|
Imatinib
|
Guideline |
Actionable |
Gleevec (imatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a ABL1 rearrangement (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
high grade glioma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring BRAF V600E, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).
|
detail...
|
|
BRAF V600E
|
salivary gland cancer
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines (category 2A) for patients with recurrent, unresectable, or metastatic salivary gland tumors harboring BRAF V600E (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Zanubrutinib
|
Guideline |
Actionable |
Brukinsa (zanubrutinib) is included in guidelines as first-line therapy and second line therapy (category 1) and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
|
BRAF V600E
|
hairy cell leukemia
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
BRAF V600E is diagnostic and aids in distinguishing classic hairy cell leukemia (cHCL) from variant hairy cell leukemia (HCLv) and other B-cell lymphomas and leukemias (PMID: 29118233, NCCN.org).
|
detail...
29118233
|
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a preferred primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
glottis cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic glottic larynx cancer (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
pancreatic adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as first-line therapy for pancreatic adenocarcinoma patients harboring an NTRK fusion with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), as first-line therapy for patients with metastatic disease with good, intermediate (category 2A), or poor (ECOG 3) (category 2B) PS, as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease (NCCN.org).
|
detail...
|
|
ALK rearrange
|
inflammatory myofibroblastic tumor
|
sensitive
|
Brigatinib
|
Guideline |
Actionable |
Alunbrig (brigatinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
appendix adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines (category 2A) as second-line or subsequent therapy for patients with advanced or metastatic appendiceal adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MLH1 negative
|
chondrosarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chondrosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as first-line therapy with good (ECOG 0-1; category 3) or poor (category 2B) performance status, or as subsequent therapy (category 2A), for metastatic ampullary adenocarcinoma patients harboring BRAF V600E (NCCN.org).
|
detail...
|
|
NRAS exon2
|
rectum cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab) is not indicated for use in rectum cancer patients with NRAS exon 2 mutations (NCCN.org).
|
detail...
|
|
BRAF V600E
|
appendix adenocarcinoma
|
sensitive
|
Cetuximab + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
|
MLH1 negative
|
glottis cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic glottic larynx cancer (NCCN.org).
|
detail...
|
|
MLH1 negative
|
vaginal carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
VHL inact mut
|
pheochromocytoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline inactivating mutations in VHL result in von Hippel-Lindau (VHL) syndrome, which is associated with increased risk of developing pheochromocytoma (NCCN.org).
|
detail...
|
|
MSH6 negative
|
extrahepatic bile duct carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
ovary epithelial cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
high grade glioma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring NTRK fusions, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).
|
detail...
|
|
IDH1 act mut
|
astrocytoma, IDH-mutant, grade 3
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive (category 2B) WHO grade 3 astrocytoma harboring an IDH1 activating mutation or as adjuvant treatment (category 2B) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
subependymal giant cell astrocytoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines (category 2B) for patients with recurrent or progressive circumscribed glioma, including subependymal giant cell astrocytoma, harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
myelodysplastic syndrome
|
sensitive
|
Azacitidine + Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) in combination with Vidaza (azacitidine) is included in guidelines (category 2B) for patients with higher-risk myelodysplastic syndrome harboring an IDH1 mutation (NCCN.org).
|
detail...
|
|
JAK3 rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK3 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
hepatocellular carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with hepatocellular carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF fusion
|
subependymal giant cell astrocytoma
|
sensitive
|
Tovorafenib
|
Guideline |
Actionable |
Ojemda (tovorafenib) is included in guidelines (category 2A) for patients with recurrent or progressive circumscribed glioma, including subependymal giant cell astrocytoma, harboring BRAF fusions, rearrangements, or BRAF V600 mutations (NCCN.org).
|
detail...
|
|
ALK rearrange
|
anaplastic large cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
The presence of ALK rearrangement is associated with a favorable prognosis in patients with anaplastic large cell lymphoma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
colon cancer
|
sensitive
|
Encorafenib + Fluorouracil + Irinotecan + Leucovorin + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) and FOLFIRI is included in guidelines as a preferred initial therapy (category 2A) for patients with advanced or metastatic colon cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
FLT3 exon18
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
FLT3 exon16
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NRAS exon3
|
rectum cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab) is not indicated for use in rectum cancer patients with NRAS exon 3 mutations (NCCN.org).
|
detail...
|
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Cosibelimab
|
Guideline |
Actionable |
Unloxcyt (cosibelimab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, MLH1, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
glioblastoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with recurrent glioblastoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NRAS wild-type
|
rectum cancer
|
predicted - sensitive
|
Panitumumab
|
Guideline |
Actionable |
Vecitbix (panitumumab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
|
MLH1 negative
|
colon cancer
|
sensitive
|
Retifanlimab
|
Guideline |
Actionable |
Zynyz (retifanlimab) is included in guidelines (category 2A) for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, PMS2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
extrahepatic bile duct carcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as subsequent-line therapy for patients with biliary cancer harboring BRAF V600E, including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
glioblastoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines (category 2B) for patients with recurrent glioblastoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
vulva squamous cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva squamous cell carcinoma (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
Erdheim-Chester disease
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring NTRK1 fusions (NCCN.org).
|
detail...
|
|
APC mutant
|
adrenocortical carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Familial adenomatous polyposis results from germline mutations in the APC gene, and is associated with increased risk of developing adrenocortical carcinoma (NCCN.org).
|
detail...
|
|
FLT3 exon20
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
BRAF V600E
|
rectum cancer
|
sensitive
|
Cetuximab + Encorafenib + Fluorouracil + Leucovorin + Oxaliplatin
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) and FOLFOX is included in guidelines as a preferred initial therapy (category 2A) for patients with advanced or metastatic rectal cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
TP53 mutant
|
essential thrombocythemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with adenocarcinoma of unknown primary harboring NTRK1 fusions (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
malignant astrocytoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of grade II and grade III astrocytomas (NCCN.org).
|
detail...
|
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Penpulimab-kcqx
|
Guideline |
Actionable |
Penpulimab-kcqx (AK105) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH6, MSH2, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 exon18
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
vulva adenocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic vulvar adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
FGFR2 act mut
|
salivary gland cancer
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring FGFR mutations or fusions (category 2B) who received prior systemic therapy and have no alternative systemic therapy available (NCCN.org).
|
detail...
|
|
ALK fusion
|
Erdheim-Chester disease
|
sensitive
|
Brigatinib
|
Guideline |
Actionable |
Alunbrig (brigatinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).
|
detail...
|
|
MLH1 negative
|
neuroendocrine tumor
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) locally advanced or metastatic well-differentiated, Grade 3 neuroendocrine tumors or unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
gastrointestinal stromal tumor
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as neoadjuvant therapy for patients with resectable disease and as first-line systemic therapy for patients with unresectable or metastatic gastrointestinal stromal tumor (GIST) harboring NTRK fusions (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
gallbladder cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as primary and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring an NTRK fusion, including gallbladder cancer (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as primary and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring an NTRK fusion, including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
ovary epithelial cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
KMT2A rearrange
|
B-cell acute lymphoblastic leukemia
|
sensitive
|
Revumenib
|
Guideline |
Actionable |
Revuforj (revumenib) is included in guidelines for patients with relapsed or refractory B-cell acute lymphoblastic leukemia harboring a KMT2A rearrangement (NCCN.org).
|
detail...
|
|
JAK1 rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK1 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
glioblastoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines for patients with recurrent glioblastoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
TET2 mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
TET2 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org).
|
detail...
|
|
ALK rearrange
|
inflammatory myofibroblastic tumor
|
sensitive
|
Alectinib
|
Guideline |
Actionable |
Alecensa (alectinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).
|
detail...
|
|
ALK rearrange
|
anaplastic large cell lymphoma
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as second-line and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org).
|
detail...
|
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Atezolizumab
|
Guideline |
Actionable |
Monotherapy with immune checkpoint inhibitors, including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab), is not indicated for use as initial systemic therapy or subsequent therapy in non-small cell lung cancer patients harboring oncogenic drivers, including ALK rearrangement (NCCN.org).
|
detail...
|
|
MLH1 negative
|
endometrial carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent-line therapy for patients with recurrent or metastatic endometrial carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
acute myeloid leukemia
|
sensitive
|
Decitabine
|
Guideline |
Actionable |
Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring a TP53 mutation (NCCN.org).
|
detail...
|
|
FLT3 exon20
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
JAK3 mutant
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK3 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
MSH6 negative
|
medullary thyroid carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with medullary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
uterine corpus sarcoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable uterine sarcoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
FGFR2 fusion
|
lung non-small cell carcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org).
|
detail...
|
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Atezolizumab + Capecitabine + Oxaliplatin
|
Guideline |
Actionable |
Tecentriq (atezolizumab) in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as adjuvant therapy (category 2A) for patients with small bowel adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, MSH2, MSH6, or PMS2 expression by IHC) (NCCN.org).
|
detail...
|
|
RET fusion
|
cholangiocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as primary (category 2B) or subsequent-line therapy (category 2A) for patients with unresectable or metastatic cholangiocarcinoma harboring RET fusions (NCCN.org).
|
detail...
|
|
FLT3 exon20
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
cervical cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with cervical cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
RET fusion
|
extrahepatic bile duct carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as primary (category 2B) and subsequent-line therapy (category 2B) for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 mutant
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring a FLT3 mutation (NCCN.org).
|
detail...
|
|
FGFR1 rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FGFR1 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
papillary thyroid carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with RAI-refractory papillary thyroid carcinoma harboring an NTRK fusion with progressive or symptomatic disease (NCCN.org).
|
detail...
|
|
ATM mutant
|
breast cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline ATM mutations are associated with increased risk of developing breast cancer (NCCN.org).
|
detail...
|
|
IDH1 act mut
|
oligodendroglioma
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines for patients with WHO grade 2 1p19q codeleted oligodendroglioma with residual/measurable disease after surgery/biopsy (category 1) or recurrent or progressive disease and WHO grade 3 1p19q codeleted oligodendroglioma with recurrent or progressive disease or as adjuvant treatment (category 2B) harboring an IDH1 activating mutation (NCCN.org).
|
detail...
|
|
BRAF V600E
|
Erdheim-Chester disease
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring BRAF V600E (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
appendix adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines (category 2A) as second-line or subsequent therapy for patients with advanced or metastatic appendiceal adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
RET V804X
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET V804X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
stomach cancer
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
vulva squamous cell carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic vulvar squamous cell carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
RET Y791X
|
medullary thyroid carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET Y791X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600E, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).
|
detail...
|
|
MSH6 negative
|
colon cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Decitabine
|
Guideline |
Actionable |
Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
uterine corpus sarcoma
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable uterine sarcoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Retifanlimab
|
Guideline |
Actionable |
Zynyz (retifanlimab) is included in guidelines (category 2A) for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
TP53 mutant
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
TP53 mutations except P47S and P72R are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
soft tissue sarcoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as a preferred first-line or subsequent therapy for patients with soft tissue sarcoma harboring an NTRK1 fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
ovary epithelial cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
pancreatic adenocarcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as first-line therapy for pancreatic adenocarcinoma patients harboring an NTRK fusion with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), as first-line therapy for patients with metastatic disease with good, intermediate (category 2A), or poor (ECOG 3) (category 2B) PS, as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
ovary epithelial cancer
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
|
MLH1 negative
|
breast cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Avelumab
|
Guideline |
Actionable |
Bavencio (avelumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, PMS2, or MLH1 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 exon14
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Atezolizumab
|
Guideline |
Actionable |
Tecentriq (atezolizumab) is included in guidelines as systemic therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MSH6, MSH2, PMS2, or MLH1 expression by IHC) (NCCN.org).
|
detail...
|
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600K, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).
|
detail...
|
|
MLH1 negative
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
vaginal carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
BRAF V600E
|
colon cancer
|
sensitive
|
Cetuximab + Encorafenib + Fluorouracil + Irinotecan + Leucovorin
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) and FOLFIRI is included in guidelines as a preferred initial therapy (category 2A) for patients with advanced or metastatic colon cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
FGFR1 rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FGFR1 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
KMT2A rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
KMT2A rearrangements (t(v;11q23.3)) aid in the diagnosis of B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
pancreatic adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as first-line therapy for pancreatic adenocarcinoma patients harboring an NTRK fusion with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), or with metastatic disease with good, intermediate (category 2A), or poor (ECOG 3) (category 2B) PS, and as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease with good (category 2A), intermediate, or poor (category 2B) PS (NCCN.org).
|
detail...
|
|
FLT3 exon23
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
Erdheim-Chester disease
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring NTRK1 fusions (NCCN.org).
|
detail...
|
|
MSH6 negative
|
bone cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a systemic therapy for patients with unresectable or metastatic bone cancer with high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 exon19
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
endometrial carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as a second-line or subsequent-line therapy (category 2A) for patients with recurrent endometrial carcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
JAK2 rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK2 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
anaplastic thyroid carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as neoadjuvant treatment for anaplastic thyroid carcinoma patients harboring NTRK fusions with stage IVa or IVb borderline resectable disease, and as a preferred systemic therapy for those with metastatic disease (NCCN.org).
|
detail...
|
|
BRAF V600E
|
colon cancer
|
sensitive
|
Cetuximab + Encorafenib + Fluorouracil + Leucovorin + Oxaliplatin
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) and FOLFOX is included in guidelines as a preferred initial therapy (category 2A) for patients with advanced or metastatic colon cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Venetoclax + Zanubrutinib
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Brukinsa (zanubrutinib) is included in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
|
MSH6 negative
|
chondrosarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chondrosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
FLT3 exon23
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Idarubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Idarubicin and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Larotrectinib
|
Guideline |
Actionable |
Vitrakvi (larotrectinib) is included in guidelines for patients with adenocarcinoma of unknown primary harboring NTRK2 fusions (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
small intestine adenocarcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as second-line or subsequent therapy (category 2A) for patients with advanced or metastatic small bowel adenocarcinoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
MSH6 negative
|
appendix adenocarcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
|
NTRK2 fusion
|
uterine corpus sarcoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable uterine sarcoma harboring an NTRK fusion (NCCN.org).
|
detail...
|
|
NTRK1 fusion
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines for patients with squamous cell carcinoma of unknown primary harboring NTRK1 fusions (NCCN.org).
|
detail...
|
|
MSH6 negative
|
appendix adenocarcinoma
|
sensitive
|
Penpulimab-kcqx
|
Guideline |
Actionable |
Penpulimab-kcqx (AK105) is included in guidelines (category 2A) for patients with advanced or metastatic appendiceal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|