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...
|
RAD51C mutant
|
ovarian cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RAD51C mutations are associated with increased risk of developing ovarian cancer (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 and second line therapy and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as first-line therapy for ALK rearranged non-small cell lung cancer (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...
|
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...
|
RET mutant
|
medullary thyroid carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with medullary thyroid carcinoma harboring RET mutations (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...
|
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...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Duvelisib
|
Guideline |
Actionable |
Copiktra (duvelisib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
RET fusion
|
papillary thyroid carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as systemic therapy for patients with papillary thyroid carcinoma harboring RET fusions (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...
|
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...
|
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...
|
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...
|
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...
|
RET fusion
|
medullary thyroid carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as systemic therapy for patients with medullary thyroid carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
IDH1 act mut
|
oligodendroglioma
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines for patients with oligodendroglioma harboring an IDH1 activating mutation (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
|
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...
|
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...
|
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...
|
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...
|
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...
|
CHEK2 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 CHEK2 mutation who have not been treated in the setting of castration-resistant prostate cancer (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...
|
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...
|
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...
|
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...
|
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...
|
IDH1 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 IDH1 mutation (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Durvalumab
|
Guideline |
Actionable |
Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (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...
|
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
|
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...
|
MSH6 negative
|
breast cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with metastatic or unresectable 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...
|
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...
|
FGFR2 fusion
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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 (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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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 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...
|
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...
|
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
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
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 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
|
angioimmunoblastic T-cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (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 an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
RAD51C 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 RAD51C (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...
|
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...
|
JAK2 rearrange
|
myeloid neoplasm
|
sensitive
|
Fedratinib
|
Guideline |
Actionable |
Inrebic (fendratinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a JAK2 rearrangement (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...
|
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...
|
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...
|
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...
|
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...
|
MLH1 negative
|
vulva cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva cancer (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...
|
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...
|
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...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Methylprednisolone + Obinutuzumab
|
Guideline |
Actionable |
Artisone-Wyeth (methylprednisolone) combined with Gazyva (obinutuzumab) is indicated 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 or Venclexta (venetoclax)-based therapy (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...
|
MLH1 negative
|
testicular germ cell cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a third-line therapy for metastatic testicular germ cell 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
|
Alectinib
|
Guideline |
Actionable |
Alecensa (alectinib) is included in guidelines as preferred first-line therapy and as subsequent therapy for patients with ALK-rearranged advanced or metastatic non-small cell lung cancer (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...
|
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 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...
|
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...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Imbruvica (ibrutinib) is indicated 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...
|
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...
|
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...
|
KIT D816V
|
systemic mastocytosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
KIT D816V aids in the diagnosis of systemic mastocytosis (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...
|
IDH2 mutant
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of gliomas (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...
|
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
|
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...
|
TSC1 inact mut
|
islet cell tumor
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline inactivating mutations in TSC1 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing pancreatic neuroendocrine tumors (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...
|
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...
|
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...
|
CTNNB1 mutant
|
desmoid tumor
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
CTNNB1 mutations aid the diagnosis of desmoid tumor (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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
IDH2 mutant
|
anaplastic astrocytoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of grade III astrocytomas (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
|
small intestine adenocarcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (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...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Acalabrutinib
|
Guideline |
Actionable |
Calquence (acalabrutinib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Obinutuzumab
|
Guideline |
Actionable |
Gazyva (obinutuzumab) is indicated in the guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
IDH2 act mut
|
astrocytoma, IDH-mutant, grade 2
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines as adjuvant therapy for patients with WHO grade 2 astrocytoma harboring an IDH2 activating mutation (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...
|
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
|
IDH2 mutant
|
oligodendroglioma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of oligodendrogliomas (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...
|
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...
|
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...
|
MSH6 negative
|
penile cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as subsequent-line systemic therapy for metastatic/recurrent penile 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
|
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...
|
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...
|
IDH1 wild-type
|
IDH-wildtype glioblastoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
Wild-type IDH1 aids in the diagnosis of glioblastoma (NCCN.org).
|
detail...
|
MLH1 negative
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
TSC1 inact mut
|
clear cell renal cell carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline inactivating mutations in TSC1 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing clear cell renal cell carcinoma (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Pirtobrutinib
|
Guideline |
Actionable |
Jaypirca (pirtobrutinib) is included in guidelines as second-line or third-line therapy for patients with chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation and for patients with relapsed or refractory disease after prior BTK inhibitor and Venclexta (venetoclax)-based therapy (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...
|
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...
|
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...
|
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...
|
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 a ABL1 rearrangement (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...
|
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...
|
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...
|
RET fusion
|
salivary gland cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with recurrent, unresectable, or metastatic salivary gland tumors harboring RET fusions (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...
|
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
|
no benefit
|
Atezolizumab
|
Guideline |
Actionable |
Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (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...
|
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...
|
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...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Obinutuzumab + Venetoclax
|
Guideline |
Actionable |
The combination of Venclexta (venetoclax) and Gazyva (obinutuzumab) is indicated in the guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Ceritinib
|
Guideline |
Actionable |
Zykadia (ceritinib) is included in guidelines as first-line and as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (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...
|
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...
|
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...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Erlotinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (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...
|
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 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Acalabrutinib
|
Guideline |
Actionable |
Calquence (acalabrutinib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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...
|
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...
|
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...
|
BRAF V600E
|
follicular thyroid carcinoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid follicular carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (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...
|
BRAF V600E
|
colon 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 colon cancer harboring BRAF V600E (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...
|
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 papillary thyroid carcinoma harboring BRAF V600E who have progressed on therapy and have no further treatment options (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...
|
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...
|
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...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Afatinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (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...
|
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...
|
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...
|
RET fusion
|
follicular thyroid carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines for patients with follicular thyroid carcinoma harboring RET fusions (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...
|
JAK2 exon12
|
polycythemia vera
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (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...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Idelalisib + Rituximab
|
Guideline |
Actionable |
Zydelig (idelalisib) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
FGFR3 mutant
|
transitional cell carcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr3 alterations after progression on platinum-based regimens (NCCN.org).
|
detail...
|
CHEK2 mutant
|
breast cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline CHEK2 mutations are associated with increased risk of developing breast cancer (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...
|
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...
|
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...
|
RET fusion
|
rectum cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with metastatic rectum cancer harboring RET fusion (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...
|
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...
|
RET fusion
|
anaplastic thyroid carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as systemic therapy for patients with anaplastic thyroid carcinoma harboring RET fusions (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...
|
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...
|
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...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Lenalidomide + Rituximab
|
Guideline |
Actionable |
Revlimid (lenalidomide) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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...
|
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...
|
BRAF V600E/K
|
skin melanoma
|
sensitive
|
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...
|
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...
|
CHEK1 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 CHEK1 (NCCN.org).
|
detail...
|
IDH1 act mut
|
astrocytoma, IDH-mutant, grade 2
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines as adjuvant therapy for patients with WHO grade 2 astrocytoma harboring an IDH1 activating mutation (NCCN.org).
|
detail...
|
SMARCB1 inact mut
|
rhabdoid cancer
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
SMARCB1 inactivating mutations aid the diagnosis of extrarenal rhabdoid tumor (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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
RAD51D mutant
|
ovarian cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RAD51D mutations are associated with increased risk of developing ovarian cancer (NCCN.org).
|
detail...
|
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...
|
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...
|
IDH1 mutant
|
oligodendroglioma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of oligodendrogliomas (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...
|
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...
|
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...
|
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...
|
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...
|
BRAF V600E
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid Hurthle cell carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (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...
|
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...
|
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...
|
MLH1 negative
|
pancreatic adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with 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...
|
SMARCB1 inact mut
|
epithelioid sarcoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
SMARCB1 inactivating mutations aid the diagnosis of epithelioid sarcoma (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...
|
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...
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with 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
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
IDH2 act mut
|
oligodendroglioma
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines as adjuvant therapy for patients with WHO grade 2 or 3 1p19q codeleted oligodendroglioma harboring an IDH2 activating mutation (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...
|
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...
|
RET fusion
|
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...
|
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...
|
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
|
Acalabrutinib + Obinutuzumab
|
Guideline |
Actionable |
Calquence (acalabrutinib) combined with Gazyva (obinutuzumab) is indicated in the guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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...
|
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) who have not received prior immunotherapy (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...
|
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...
|
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...
|
RET fusion
|
cervical cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with cervical cancer harboring RET fusions (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...
|
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...
|
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...
|
RET rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Cabozantinib
|
Guideline |
Actionable |
Cometriq (cabozantinib) is in guidelines as a first-line and subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Pirtobrutinib
|
Guideline |
Actionable |
Jaypirca (pirtobrutinib) is included in guidelines as second-line or third-line 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 Venclexta (venetoclax)-based therapy (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...
|
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...
|
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...
|
BRAF V600E
|
pancreatic adenocarcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as first-line therapy for patients with locally advanced (category 2A) or metastatic (category 2B) pancreatic adenocarcinoma harboring BRAF V600E, and as subsequent-line therapy for patients with locally advanced, recurrent, or metastatic disease (category 2A) (NCCN.org).
|
detail...
|
CHEK2 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 CHEK2 (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Idelalisib
|
Guideline |
Actionable |
Zydelig (idelalisib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Idelalisib
|
Guideline |
Actionable |
Zydelig (idelalisib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Methylprednisolone + Rituximab
|
Guideline |
Actionable |
Artisone-Wyeth (methylprednisolone) combined with Rituxan (rituximab) is indicated in the guidelines as first-line therapy and second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
|
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...
|
RET mutant
|
medullary thyroid carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines (category 2B) for patients with medullary thyroid carcinoma harboring RET mutations (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...
|
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...
|
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...
|
MLH1 negative
|
breast cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with metastatic or unresectable 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...
|
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...
|
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...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Methylprednisolone + Obinutuzumab
|
Guideline |
Actionable |
Artisone-Wyeth (methylprednisolone) combined with Gazyva (obinutuzumab) is indicated in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss and for patients with relapsed or refractory disease after prior BTK inhibitor or Venclexta (venetoclax)-based therapy (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...
|
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...
|
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...
|
RAD51C 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 RAD51C mutation who have not been treated in the setting of castration-resistant prostate cancer (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...
|
RET fusion
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines for patients with thyroid Hurthle cell carcinoma harboring RET fusions (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...
|
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...
|
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...
|
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
|
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...
|
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...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Obinutuzumab + Venetoclax
|
Guideline |
Actionable |
The combination of Venclexta (venetoclax) and Gazyva (obinutuzumab) is indicated in the guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
|
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...
|
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...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Immune checkpoint inhibitors including Keytruda (pembrolizumab), Tecentriq (atezolizumab), and the combination of Opdivo (nivolumab) and Yervoy (ipilimumab) are not indicated for use as initial systemic therapy in non-small cell lung cancer patients harboring oncogenes, including ALK rearrangement (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...
|
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...
|
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...
|
IDH2 act mut
|
oligodendroglioma
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines for patients with oligodendroglioma harboring an IDH2 activating mutation (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...
|
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...
|
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...
|
TSC2 inact mut
|
islet cell tumor
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline inactivating mutations in TSC2 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing pancreatic neuroendocrine tumors (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...
|
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...
|
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 thryoid Hürthle cell carcinoma harboring BRAF V600E who have progressed on therapy and have no further treatment 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...
|
FGFR2 rearrange
|
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...
|
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...
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 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...
|
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...
|
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...
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Brigatinib
|
Guideline |
Actionable |
Alunbrig (brigatinib) is included in guidelines as preferred first-line and as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (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...
|
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...
|
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...
|
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...
|
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...
|
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) who have not received prior immunotherapy (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...
|
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...
|
BRAF V600E
|
appendix adenocarcinoma
|
sensitive
|
Encorafenib + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines for patients with advanced or metastatic appendiceal adenocarcinoma harboring BRAF V600E (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...
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as preferred first-line therapy and as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (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...
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (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...
|
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...
|
RAD54L 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 RAD54L (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...
|
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 non-small cell lung cancer harboring a ROS1 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...
|
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...
|
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...
|
IDH1 act mut
|
chondrosarcoma
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines as systemic therapy for patients with conventional or dedifferentiated chondrosarcoma harboring an IDH1 activating mutation (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...
|
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...
|
JAK2 mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
JAK2 mutations aid in the diagnosis of primary myelofibrosis (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...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Duvelisib
|
Guideline |
Actionable |
Copiktra (duvelisib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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...
|
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...
|
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
|
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...
|
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...
|
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...
|
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...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Gefitinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (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...
|
MSH6 negative
|
esophagus adenocarcinoma
|
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 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
|
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...
|
BRAF V600E
|
anaplastic thyroid carcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for metastatic thyroid gland anaplastic carcinoma patients harboring BRAF V600E (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 follicular thyroid carcinoma harboring BRAF V600E who have progressed on therapy and have no further treatment options (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Imbruvica (ibrutinib) is indicated in guidelines as first-line (category 2A), second-line, or third-line therapy (category 2B) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Rituximab + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Rituximab + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
|
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...
|
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...
|
BRAF V600E
|
colon cancer
|
sensitive
|
Encorafenib + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines as primary or subsequent therapy for patients with colon cancer harboring BRAF V600E (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...
|
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 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...
|
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...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Nivolumab
|
Guideline |
Actionable |
Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (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...
|
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...
|
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
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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 thyroid medullary carcinoma (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...
|
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...
|
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...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Pembrolizumab
|
Guideline |
Actionable |
Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (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...
|
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...
|
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...
|
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...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Osimertinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (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...
|
IDH1 act mut
|
oligodendroglioma
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines as adjuvant therapy for patients with WHO grade 2 or 3 1p19q codeleted oligodendroglioma harboring an IDH1 activating mutation (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...
|
BRAF V600E
|
follicular thyroid carcinoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid follicular carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (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
|
gastroesophageal junction adenocarcinoma
|
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 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...
|
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...
|
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...
|
IDH1 act mut
|
astrocytoma, IDH-mutant, grade 3
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive WHO grade 3 astrocytoma harboring an IDH1 activating mutation (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...
|
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...
|
MSH6 negative
|
vulva cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva cancer (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...
|
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...
|
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 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Methylprednisolone + Rituximab
|
Guideline |
Actionable |
Artisone-Wyeth (methylprednisolone) combined with Rituxan (rituximab) is indicated in the guidelines as first-line therapy and second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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...
|
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
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
IDH2 wild-type
|
IDH-wildtype glioblastoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
Wild-type IDH2 aids in the diagnosis of glioblastoma (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...
|
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...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Afatinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (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...
|
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...
|
JAK2 mutant
|
essential thrombocythemia
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
JAK2 mutations aid in the diagnosis of essential thrombocythemia (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...
|
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...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Ceritinib
|
Guideline |
Actionable |
Zykadia (ceritinib) is included in guidelines as first-line therapy for ROS1-rearranged non-small cell lung cancer, but is not indicated after patients become resistant to Xalkori (crizotinib) (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...
|
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...
|
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
|
small intestine adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as a subsequent therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (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...
|
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...
|
CHEK2 mutant
|
prostate cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline CHEK2 mutations are associated with increased risk of developing prostate cancer (NCCN.org).
|
detail...
|
RET fusion
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with squamous cell carcinoma of unknown primary harboring RET fusions (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...
|
SMARCB1 del
|
epithelioid sarcoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
SMARCB1 deletion aids the diagnosis of epithelioid sarcoma (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...
|
RAD51D 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 RAD51D (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...
|
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...
|
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...
|
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...
|
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...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib
|
Guideline |
Actionable |
Imbruvica (ibrutinib) is indicated in the guidelines as first line therapy and second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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...
|
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...
|
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...
|
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...
|
BRAF V600E
|
papillary thyroid carcinoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid papillary carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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 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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
MSH6 negative
|
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...
|
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...
|
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...
|
RET fusion
|
pancreatic adenocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma harboring RET fusions (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...
|
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
|
pancreatic adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (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...
|
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...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Alemtuzumab + Rituximab
|
Guideline |
Actionable |
Campath (alemtuzumab) combined with Rituxan (rituximab) is indicated in guidelines as therapy for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss who received prior treatment with a BTK inhibitor or Venclexta (venetoclax)-based therapy (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...
|
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...
|
MSH6 negative
|
testicular germ cell cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a third-line therapy for metastatic testicular germ cell 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...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Brigatinib
|
Guideline |
Actionable |
Alunbrig (brigatinib) is not indicated for use in ROS1 rearranged non-small cell lung cancer patients whose disease became resistant to Xalkori (crizotinib) (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...
|
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...
|
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
|
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...
|
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...
|
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 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...
|
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...
|
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...
|
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...
|
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...
|
RAD51C mutant
|
breast cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RAD51C mutations are associated with increased risk of developing breast cancer (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...
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Olutasidenib
|
Guideline |
Actionable |
Rezlidhia (olutasidenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (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...
|
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...
|
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...
|
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...
|
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...
|
IDH1 act mut
|
malignant astrocytoma
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines for patients with astrocytoma harboring an IDH1 activating mutation (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...
|
BRAF V600E
|
salivary gland cancer
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for patients with recurrent, unresectable, or metastatic salivary gland tumors harboring BRAF V600E (NCCN.org).
|
detail...
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as a subsequent therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (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...
|
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
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
RET fusion
|
medullary thyroid carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with medullary thyroid carcinoma harboring RET fusions (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...
|
RET fusion
|
oncocytic carcinoma of the thyroid
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with thyroid Hurthle cell carcinoma harboring RET fusions (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...
|
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...
|
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...
|
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...
|
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...
|
APC mutant
|
desmoid tumor
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
APC mutations aid the diagnosis of desmoid tumor (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...
|
RET rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as a first-line and subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Lenalidomide + Rituximab
|
Guideline |
Actionable |
Revlimid (lenalidomide) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
|
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...
|
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...
|
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
|
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...
|
BRAF V600E
|
papillary thyroid carcinoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid papillary carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (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...
|
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...
|
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...
|
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...
|
IDH2 act mut
|
astrocytoma, IDH-mutant, grade 4
|
sensitive
|
Vorasidenib
|
Guideline |
Actionable |
Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive WHO grade 4 astrocytoma harboring an IDH2 activating mutation (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 WHO grade 4 astrocytoma harboring an IDH1 activating mutation (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...
|
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...
|
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...
|
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...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as the preferred first-line therapy for ROS1 rearranged non-small cell lung cancer (NCCN.org).
|
detail...
|
RET fusion
|
papillary thyroid carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with papillary thyroid carcinoma harboring RET fusions (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...
|
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...
|
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...
|
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...
|
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...
|
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 negative
|
penile cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as subsequent-line systemic therapy for metastatic/recurrent penile 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
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
RAD51D mutant
|
breast cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RAD51D mutations are associated with increased risk of developing breast cancer (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...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Erlotinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).
|
detail...
|
RET rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is in guidelines as a first-line and subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (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...
|
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...
|
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...
|
BRAF V600E
|
appendix adenocarcinoma
|
sensitive
|
Cetuximab + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) is included in guidelines for patients with advanced or metastatic appendiceal adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Alectinib
|
Guideline |
Actionable |
Alecensa (alectinib) is not indicated for use in ROS1 rearranged non-small cell lung cancer patients whose disease became resistant to Xalkori (crizotinib) (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...
|
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...
|
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...
|
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...
|
IDH2 act mut
|
malignant astrocytoma
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines for patients with astrocytoma harboring an IDH2 activating mutation (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...
|
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 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...
|
RET fusion
|
follicular thyroid carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with follicular thyroid carcinoma harboring RET fusions (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...
|
RAD51B 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 RAD51B (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...
|
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...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib
|
Guideline |
Actionable |
Imbruvica (ibrutinib) is indicated in the guidelines as first line therapy and second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
|
IDH1 mutant
|
myelodysplastic syndrome
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines for patients with myelodysplastic syndrome harboring an IDH1 mutation who progressed or failed to respond to prior treatment (NCCN.org).
|
detail...
|
FGFR3 act mut
|
bladder urothelial carcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring susceptible Fgfr3 alterations after progression on platinum-based regimens (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...
|
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...
|
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...
|
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...
|
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...
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Azacitidine + Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) in combination with Vidaza (azacitidine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Osimertinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).
|
detail...
|
BRAF V600E
|
rectum cancer
|
sensitive
|
Encorafenib + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines as primary or subsequent therapy for patients with rectal cancer harboring BRAF V600E (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...
|
TSC2 inact mut
|
clear cell renal cell carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline inactivating mutations in TSC2 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing clear cell renal cell carcinoma (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Acalabrutinib + Obinutuzumab
|
Guideline |
Actionable |
Calquence (acalabrutinib) combined with Gazyva (obinutuzumab) is indicated in the guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
|
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...
|
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...
|
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...
|
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...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Obinutuzumab
|
Guideline |
Actionable |
Gazyva (obinutuzumab) is indicated in the guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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...
|
MLH1 negative
|
esophagus adenocarcinoma
|
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 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
|
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...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Idelalisib + Rituximab
|
Guideline |
Actionable |
Zydelig (idelalisib) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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
|
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...
|
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...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Gefitinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).
|
detail...
|
RET fusion
|
anaplastic thyroid carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with anaplastic thyroid carcinoma 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
|
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
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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 and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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 WHO grade 3 astrocytoma harboring an IDH2 activating mutation (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 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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
JAK2 V617F
|
polycythemia vera
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
JAK2 V617F aids in the diagnosis of polycythemia vera (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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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...
|
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 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, for metastatic ampullary adenocarcinoma patients harboring BRAF V600E (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...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Alemtuzumab + Rituximab
|
Guideline |
Actionable |
Campath (alemtuzumab) combined with Rituxan (rituximab) is indicated in guidelines as therapy for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation who received prior treatment with a BTK inhibitor or Venclexta (venetoclax)-based therapy (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...
|
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...
|
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 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...
|
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 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...
|
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...
|
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...
|
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...
|
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...
|