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Gene Symbol KIT
Synonyms C-Kit | CD117 | MASTC | PBT | SCFR
Gene Description KIT, KIT proto-oncogene, receptor tyrosine kinase, is a transmembrane receptor tyrosine kinase (PMID: 32214210) that binds the stem cell factor (SCF) ligand to activate PI3K, JAK/STAT, and MAPK pathways to promote cell survival and proliferation (PMID: 23181448, PMID: 29704617). Activating Kit mutations are driver mutations in a variety of cancers, particularly in gastrointestinal stromal tumors (PMID: 23127174, PMID: 29704617, PMID: 32091431), acute myeloid leukemia (PMID: 32008291), melanomas (PMID: 30707374, PMID: 32608199), and seminomas (PMID: 29704617).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
3815 4 4q12 NM_000222 Oncogene (PMID: 30606230)

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ALK fusion ALK G1202R KIT amp lung non-small cell carcinoma predicted - resistant Crizotinib Case Reports/Case Series Actionable In a clinical study, an ALK G1202R secondary mutation as well as KIT amplification were identified in a patient with ALK fusion-positive non-small cell lung cancer with resistance to Xalkori (crizotinib) (PMID: 22277784). 22277784
KIT wild-type Advanced Solid Tumor sensitive PLX9486 Preclinical - Cell culture Actionable In a preclinical study, PLX9486 treatment inhibited proliferation of ligand-stimulated cells expressing wild-type KIT in culture (PMID: 30523507). 30523507
KIT wild-type acute megakaryocytic leukemia decreased response Avapritinib Preclinical - Cell culture Actionable In a preclinical study, KIT wild-type megakaryocytic leukemia cells were less sensitive to Ayvakit (avapritinib) compared to cells harboring KIT mutations in culture (PMID: 29093181). 29093181
KIT wild-type acute myeloid leukemia sensitive BPR1J373 Preclinical - Cell culture Actionable In a preclinical study, an acute myeloid leukemia cell line harboring KIT wild-type was sensitive to BPR1J373 in culture, demonstrating apoptotic induction and inhibition of cell proliferation (PMID: 27512117). 27512117
KIT positive prostate neuroendocrine neoplasm no benefit Imatinib Preclinical Actionable In a preclinical study, a prostate neuroendocrine tumor mouse model expressing Kit did not respond to Gleevec (imatinib), a result of impaired signaling of the Kit pathway (PMID: 27980106). 27980106
KIT positive germ cell cancer no benefit Imatinib Phase II Actionable In a small Phase II study, 6 patients with KIT-positive refractory germ cell tumors treated with Gleevec (imatinib) experienced no significant antitumor activity (PMID: 16462496). 16462496
KIT positive gastrointestinal stromal tumor sensitive Imatinib FDA approved Actionable In a Phase II trial that supported FDA approval, treatment with Gleevec (imatinib) resulted in an overall response rate of 38% (56/147) and a median duration of response of 13 weeks in patients with metastatic or unresectable KIT-positive GIST (PMID: 12374669). 12374669 detail...
KIT positive breast cancer predicted - sensitive Imatinib + Letrozole Phase 0 Actionable In a pilot trial, Gleevec (imatinib mesylate) and Femara (letrozole) combination treatment resulted in clinical partial response in 90% (9/10) and stable disease in 10% (1/10) of the evaluable patients with invasive hormone-sensitive breast cancer, 8 of the 13 enrolled patients had KIT-positive tumors (PMID: 18248884). 18248884
KIT over exp seminoma sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) in conjunction with third-line chemotherapy resulted in a complete response in a patient with stage IV chemoresistant pure seminoma with KIT overexpression (PMID: 18751412). 18751412
KIT over exp Advanced Solid Tumor sensitive Derazantinib Preclinical - Cell culture Actionable In a preclinical study, Derazantinib (ARQ 087) inhibited growth of transformed cells overexpressing Kit in culture (PMID: 27627808). 27627808
KIT V560del KIT over exp thymic carcinoma predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case report, a patient with metastatic thymic carcinoma harboring KIT V560del with KIT over expression initially demonstrated stable disease and reduction in metastatic lesions following treatment with Gleevec (imatinib), but progressed after 6 months (PMID: 15201427). 15201427
KIT W557R melanoma predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including a melanoma patient harboring KIT W557R demonstrating a partial response and progression free survival of 35.4 months and overall survival of 35.4 months (PMID: 28327988). 28327988
KIT W557R KIT L576P melanoma predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including a melanoma patient co-harboring KIT L576P and KIT W557R demonstrating a partial response and a progression free survival of 5.3 months and overall survival of 14.7 months when treated with Tasigna (nilotinib) (PMID: 28327988). 28327988
KIT M541L chronic leukemia sensitive Imatinib Phase I Actionable In Phase I trials, KIT M541L has been associated with response to Gleevec (imatinib) in chronic eosinophilic leukemia, NOS (PMID: 25015329) and mastocytosis (PMID: 18795925). 25015329 18795925
KIT mutant melanoma sensitive Nilotinib Phase II Actionable In a Phase II trial, Tasigna (nilotinib) treatment in patients with melanoma harboring KIT mutations resulted in an overall response rate of 26.2% (11/42), which included 11 patients with a partial response, a median duration of response of 7.1 months, and an overall survival of 18 months (PMID: 28327988; NCT01028222). 28327988
KIT mutant melanoma sensitive Nilotinib Phase II Actionable In a Phase II trial, Tasigna (nilotinib) treatment resulted in complete response in 4% (1/25), durable partial response in 16% (4/25), and stable disease in 56% (14/25) of melanoma patients harboring KIT mutations (PMID: 28843487; NCT01168050). 28843487
KIT mutant gastrointestinal stromal tumor not applicable N/A Clinical Study Diagnostic KIT mutations are used in the diagnosis of gastrointestinal stromal tumors (PMID: 25193432, PMID: 26276366, PMID: 25729899). 25193432 26276366 25729899
KIT mutant gastrointestinal stromal tumor sensitive Imatinib + Infigratinib Preclinical - Pdx Actionable In a preclinical study, Truseltiq (infigratinib) and Gleevec (imatinib) combination treatment demonstrated enhanced antitumor activity in patient derived xenograft models of gastrointestinal stromal tumor harboring KIT mutations (PMID: 25673643). 25673643
KIT mutant gastrointestinal stromal tumor predicted - sensitive Avapritinib Phase I Actionable In a Phase I (NAVIGATOR) trial, Ayvakit (avapritinib) treatment resulted in an objective response rate of 13% (7/52, 7 partial responses) and a disease control rate of 63% (33/52) in patients with KIT-mutant gastrointestinal stromal tumor (The CTOS 2018 Annual Meeting, Nov 14-17, Rome Italy, Paper 012 3027631; NCT02508532). detail...
KIT mutant melanoma predicted - sensitive Ripretinib Phase I Actionable In a Phase I trial, Qinlock (ripretinib) treatment demonstrated manageable safety and preliminary efficacy in patients with KIT-mutated melanoma, and led to an objective response rate of 23% (6/26, 1 complete and 5 partial responses), a median progression-free survival of 7.3 months, and a median duration of response of 9.1 months (PMID: 35753087; NCT02571036). 35753087
KIT mutant gastrointestinal stromal tumor predicted - sensitive Ripretinib Phase I Actionable In a Phase I trial, Qinlock (ripretinib) demonstrated preliminary safety and efficacy in patients with advanced solid tumors, including KIT-mutant gastrointestinal stromal tumor (GIST), with 1 patient harboring KIT exon 11 and 17 mutations demonstrating a partial response, and 7/7 KIT-mutant GIST patients demonstrating a partial metabolic response (EORTC-NCI-AACR 2016, Abs 7LBA). detail...
KIT mutant gastrointestinal stromal tumor predicted - sensitive Ripretinib Phase I Actionable In a Phase I trial, Qinlock (ripretinib) was well tolerated, resulted in an objective response in 11.3% (16/142, 16 partial responses) and stable disease in 61.3% (87/142) of patients with advanced gastrointestinal stromal tumor harboring KIT (exon 11, n=103; exon 9, n=26; other, n=6) or PDGFRA mutations (n=7), with a median progression-free survival of 5.6 months (PMID: 32804590; NCT02571036). 32804590
KIT S476I mast-cell leukemia predicted - sensitive Midostaurin Preclinical - Patient cell culture Actionable In a preclinical study, treatment with Rydapt (midostaurin) decreased proliferation of patient-derived neoplastic mast cells harboring KIT S476I in culture (PMID: 25209843). 25209843
KIT S476I mast-cell leukemia predicted - sensitive Nilotinib Preclinical - Patient cell culture Actionable In a preclinical study, treatment with Tasigna (nilotinib) decreased proliferation of patient-derived neoplastic mast cells harboring KIT S476I in culture (PMID: 25209843). 25209843
KIT W557G extraskeletal myxoid chondrosarcoma predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in stable disease lasting at least 3 years in a patient with extraskeletal myxoid chondrosarcoma harboring KIT W557G (PMID: 34446510). 34446510
KIT W557G Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib mesylate) inhibited Kit phosphorylation efficiently in transformed human cells over expressing KIT W557G in culture (PMID: 23567324). 23567324
KIT V559A Advanced Solid Tumor sensitive Axitinib Preclinical - Cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT V559A in culture (PMID: 31205508). 31205508
KIT V559A melanoma predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment in a patient with metastatic melanoma resulted in regression of the lung metastasis, which harbored KIT V559A; however, neither the primary tumor or lymph node metastasis responded, which had wild-type KIT (PMID: 19812602). 19812602
KIT V559A gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT V559A was identified as a secondary mutation in a patient with gastrointestinal stromal tumor who developed resistance to Gleevec (imatinib) (PMID: 18488160). 18488160
KIT V559A melanoma predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41), including a melanoma patient harboring KIT V559A demonstrating a partial response and progression-free survival of 19.4 months and overall survival of 32.9 months (PMID: 28327988). 28327988
KIT V559D gastrointestinal stromal tumor sensitive Axitinib Preclinical - Patient cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited proliferation of gastrointestinal stromal tumor patient-derived primary cells harboring KIT V559D in culture (PMID: 31205508). 31205508
KIT V559D Advanced Solid Tumor sensitive Axitinib Preclinical - Cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT V559D in culture (PMID: 31205508). 31205508
KIT V559D Advanced Solid Tumor sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, Sprycel (dasatinib) decreased KIT signaling, and inhibited growth and induced apoptosis of transformed cells expressing KIT V559D in culture (PMID: 21689725). 21689725
KIT V559D Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) decreased KIT signaling, and inhibited growth and induced apoptosis of transformed cells expressing KIT V559D in culture (PMID: 21689725). 21689725
KIT V559D Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited proliferation of transformed cells expressing KIT V559D in culture (PMID: 35194937). 35194937
KIT V559D Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559D were sensitive to Gleevec (imatinib), demonstrating decreased cell proliferation in culture and inhibition of Kit, Erk1/2, and Stat3 phosphorylation (PMID: 24205792). 24205792
KIT V559D melanoma predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including a melanoma patient harboring KIT V559D demonstrating a partial response and progression free survival of 28.3 months and overall survival of 28.3 months (PMID: 28327988). 28327988
KIT V559D gastrointestinal stromal tumor predicted - sensitive Nintedanib Preclinical - Patient cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited proliferation of patient-derived gastrointestinal stromal tumor cells harboring KIT V559D in culture (PMID: 35194937). 35194937
KIT V559D Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT V559D in culture (PMID: 35194937). 35194937
KIT V559D Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, cells expressing KIT V559D demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT V559D Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V559D in culture (PMID: 35194937). 35194937
KIT V559D Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559D were sensitive to Sutent (sunitinib), demonstrating decreased cell proliferation in culture and inhibition of Kit, Erk1/2, and Stat3 phosphorylation (PMID: 24205792). 24205792
KIT V559D Advanced Solid Tumor sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559D were sensitive to Flumatinib, demonstrating decreased cell proliferation in culture and inhibition of Kit, Erk1/2, and Stat3 phosphorylation (PMID: 24205792). 24205792
KIT V559D KIT D820Y Advanced Solid Tumor sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, Sprycel (dasatinib) inhibited proliferation of transformed cells expressing a KIT V559D/D820Y double mutation in culture (PMID: 17699867). 17699867
KIT V559D KIT D820Y Advanced Solid Tumor sensitive Nilotinib Preclinical - Cell culture Actionable In a preclinical study, Tasigna (nilotinib) inhibited proliferation of transformed cells expressing a KIT V559D/D820Y double mutation in culture, with increased potency compared to Sprycel (dasatinib) or Nexavar (sorafenib) (PMID: 17699867). 17699867
KIT V559D KIT D820Y Advanced Solid Tumor sensitive Sorafenib Preclinical - Cell culture Actionable In a preclinical study, Nexavar (sorafenib) inhibited proliferation of transformed cells expressing a KIT V559D/D820Y double mutation in culture (PMID: 17699867). 17699867
KIT V559D KIT V654A Advanced Solid Tumor sensitive Axitinib Preclinical - Cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT V654A and KIT V559D in culture (PMID: 31205508). 31205508
KIT V559D KIT V654A Advanced Solid Tumor predicted - sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559D and V654A demonstrated decreased proliferation in response to Ofev (nintedanib) in culture, but were less sensitive to treatment compared to cells expressing either KIT V559D or KIT V654A alone (PMID: 35194937). 35194937
KIT V559D KIT V654A Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V559D and V654A in culture (PMID: 35194937). 35194937
KIT V559D KIT V654A Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V654A and KIT V559D in culture (PMID: 31205508). 31205508
KIT V559D KIT V654A Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT V559D and KIT V654A were sensitive to treatment with Sutent (sunitinib) in culture, demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT V559D KIT V654A Advanced Solid Tumor resistant Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559D and V654A were resistant to Ayvakit (avapritinib) treatment in culture (PMID: 35194937). 35194937
KIT V559D KIT V654A Advanced Solid Tumor resistant Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559D and V654A were resistant to Qinlock (ripretinib) treatment in culture (PMID: 35194937). 35194937
KIT V559D KIT T670I Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559D and T670I were resistant to Gleevec (imatinib) treatment in culture (PMID: 35194937). 35194937
KIT V559D KIT T670I Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT V559D and T670I in culture (PMID: 35194937). 35194937
KIT V559D KIT T670I Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT T670I and KIT V559D in culture (PMID: 31205508). 31205508
KIT V559D KIT T670I Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V559D and T670I in culture (PMID: 35194937). 35194937
KIT V559D KIT T670I Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT V559D and KIT T670I were sensitive to treatment with Sutent (sunitinib) in culture, demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT V559D KIT T670I Advanced Solid Tumor resistant Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559D and T670I were resistant to Ayvakit (avapritinib) treatment in culture (PMID: 35194937). 35194937
KIT V559D KIT T670I Advanced Solid Tumor resistant Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559D and T670I were resistant to Qinlock (ripretinib) treatment in culture (PMID: 35194937). 35194937
KIT V559D KIT N822K Advanced Solid Tumor no benefit Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT N822K and KIT V559D were insensitive to Sutent (sunitinib) in culture (PMID: 24205792). 24205792
KIT V559D KIT N822K Advanced Solid Tumor sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT N822K and KIT V559D were sensitive to Flumatinib in culture, demonstrating decreased cell proliferation and inhibition of Kit, Erk 1/2, and Stat3 phosphorylation (PMID: 24205792). 24205792
KIT V559D KIT Y823D Advanced Solid Tumor no benefit Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) treatment in a mouse model with cells expressing KIT V559D and KIT Y823D resulted in shortened survival (PMID: 24205792). 24205792
KIT V559D KIT Y823D Advanced Solid Tumor no benefit Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT Y823D and KIT V559D were insensitive to Sutent (sunitinib) in culture and in mouse models (PMID: 24205792). 24205792
KIT V559D KIT Y823D Advanced Solid Tumor sensitive Flumatinib Preclinical Actionable In a preclinical study, Flumatinib treatment in transformed cells co-expressing KIT Y823D and KIT V559D resulted in decreased cell proliferation and inhibition of Kit, Erk1/2, and Stat3 phosphorylation in culture, and led to improved survival in mouse models (PMID: 24205792). 24205792
KIT V559D KIT A829P Advanced Solid Tumor no benefit Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT A829P and KIT V559D were insensitive to Sutent (sunitinib) in culture (PMID: 24205792). 24205792
KIT V559D KIT A829P Advanced Solid Tumor sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT A829P and KIT V559D were sensitive to Flumatinib in culture, demonstrating decreased cell proliferation and inhibition of Kit, Erk1/2, and Stat3 phosphorylation (PMID: 24205792). 24205792
KIT V559D KIT D820G Advanced Solid Tumor sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D820G and KIT V559D were sensitive to Flumatinib in culture, demonstrating decreased cell proliferation (PMID: 24205792). 24205792
CTNNB1 mut KIT V559D KIT T670I hepatocellular carcinoma predicted - sensitive WNTinib Preclinical - Cell culture Actionable In a preclinical study, a hepatocellular carcinoma cell line harboring a deletion of CTNNB1 exons and expressing KIT V559D and T670I was resistant to WNTinib in culture (PMID: 37537299). 37537299
KIT N505I melanoma predicted - sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) decreased phosphorylation of KIT, AKT, and ERK in melanocytes expressing KIT N505I in culture (PMID: 24317392). 24317392
KIT N505I melanoma sensitive Sorafenib Preclinical Actionable In a preclinical study, KIT N505I induced phosphorylation of KIT, ERK, and AKT, and was inhibited by Nexavar (sorafenib) in cell culture of melanocytes, demonstrating sensitivity of N505I to sorafenib (PMID: 24317392). 24317392
KIT D816V hematologic cancer sensitive Crenolanib Preclinical - Cell culture Actionable In a preclinical study, Crenolanib inhibited Kit phosphorylation and growth of transformed hematologic cells expressing KIT D816V in culture (PMID: 31309543). 31309543
KIT D816V acute myeloid leukemia sensitive Crenolanib Preclinical - Cell culture Actionable In a preclinical study, Crenolanib inhibited Kit phosphorylation and growth of erythroleukemia cells expressing KIT D816V in culture (PMID: 31309543). 31309543
KIT D816V hematologic cancer sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816V were sensitive to treatment with Sprycel (dasatinib) in culture, demonstrating reduced cell survival (PMID: 31182436). 31182436
KIT D816V systemic mastocytosis resistant Imatinib FDA contraindicated Actionable Gleevec (imatinib) is not indicated for patients with aggressive systemic mastocytosis harboring KIT D816V (FDA.gov). detail...
KIT D816V hematologic cancer resistant Imatinib Preclinical Actionable In a preclinical study, a mouse myeloid cell line expressing KIT D816V demonstrated resistance to Gleevec (imatinib) in culture (PMID: 12481435). 12481435
KIT D816V Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) treatment did not inhibit proliferation of transformed cells expressing KIT D816V in culture (PMID: 30523507). 30523507
KIT D816V Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT D816V demonstrated resistance to Gleevec (imatinib mesylate) in culture (PMID: 15790786). 15790786
KIT D816V Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816V were resistant to Gleevec (imatinib) treatment in culture (PMID: 35194937). 35194937
KIT D816V hematologic cancer sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited Kit phosphorylation and growth of transformed hematologic cells expressing KIT D816V in culture (PMID: 31309543). 31309543
KIT D816V acute myeloid leukemia sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited Kit phosphorylation and growth of erythroleukemia cells expressing KIT D816V in culture (PMID: 31309543). 31309543
KIT D816V Advanced Solid Tumor sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816V were sensitive to treatment with Rydapt (midostaurin) in culture, demonstrating decreased cell proliferation (PMID: 31270078). 31270078
KIT D816V Advanced Solid Tumor decreased response Nilotinib Preclinical Actionable In a preclinical study, Tasigna (nilotinib) decreased viability of cells expressing KIT D816V in culture, but did not inhibit KIT phosphorylation or growth of KIT D816V-expressing tumors in mouse models (PMID: 20442311). 20442311
KIT D816V Advanced Solid Tumor resistant Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) did not inhibit growth of transformed cells expressing KIT D816V in culture (PMID: 22301675). 22301675
KIT D816V hematologic cancer resistant Quizartinib Preclinical - Cell culture Actionable In a preclinical study, Vanflyta (quizartinib) did not inhibit Kit phosphorylation or growth of transformed hematologic cells expressing KIT D816V in culture (PMID: 31309543). 31309543
KIT D816V acute myeloid leukemia resistant Quizartinib Preclinical - Cell culture Actionable In a preclinical study, Vanflyta (quizartinib) did not inhibit Kit phosphorylation or growth of erythroleukemia cells expressing KIT D816V in culture (PMID: 31309543). 31309543
KIT D816V Advanced Solid Tumor resistant Quizartinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT D816V demonstrated resistance to Quizartinib in culture (PMID: 23497317). 23497317
KIT D816V Advanced Solid Tumor resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816V were resistant to Stivarga (regorafenib) in culture (PMID: 31085175). 31085175
KIT D816V hematologic cancer resistant Sorafenib Preclinical - Cell culture Actionable In a preclinical study, Nexavar (sorafenib) did not inhibit Kit phosphorylation or growth of transformed hematologic cells expressing KIT D816V in culture (PMID: 31309543). 31309543
KIT D816V hematologic cancer resistant Sorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed hematopoietic cells expressing KIT D816V demonstrated resistance to Nexavar (sorafenib) in culture (PMID: 17229632). 17229632
KIT D816V acute myeloid leukemia resistant Sorafenib Preclinical - Cell culture Actionable In a preclinical study, Nexavar (sorafenib) did not inhibit Kit phosphorylation or growth of erythroleukemia cells expressing KIT D816V in culture (PMID: 31309543). 31309543
KIT D816V Advanced Solid Tumor resistant Sunitinib Preclinical Actionable In a preclinical study, KIT D816V mutations demonstrated resistance to Sutent (sunitinib) in a biochemical assay (PMID: 19164557). 19164557
KIT D816V Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816V were resistant to treatment with Sutent (sunitinib) in culture (PMID: 24205792). 24205792
KIT D816V Advanced Solid Tumor resistant Cabozantinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT D816V demonstrated resistance to Cometriq (cabozantinib) in culture (PMID: 24205792). 24205792
KIT D816V systemic mastocytosis not applicable N/A Guideline Diagnostic KIT D816V aids in the diagnosis of systemic mastocytosis (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...
KIT D816V Advanced Solid Tumor sensitive PLX9486 Preclinical - Cell culture Actionable In a preclinical study, PLX9486 treatment inhibited proliferation of Gleevec (imatinib)-resistant transformed cells expressing KIT D816V in culture (PMID: 30523507). 30523507
KIT D816V hematologic cancer predicted - sensitive Gilteritinib Preclinical - Cell culture Actionable In a preclinical study, Xospata (gilteritinib) demonstrated moderate inhibition of Kit phosphorylation and growth of transformed hematologic cells expressing KIT D816V in culture (PMID: 31309543). 31309543
KIT D816V acute myeloid leukemia predicted - sensitive Gilteritinib Preclinical - Cell culture Actionable In a preclinical study, Xospata (gilteritinib) demonstrated moderate inhibition of Kit phosphorylation and growth of erythroleukemia cells expressing KIT D816V in culture (PMID: 31309543). 31309543
KIT D816V systemic mastocytosis sensitive Avapritinib Phase II Actionable In a Phase II trial (PATHFINDER), Ayvakit (avapritinib) treatment resulted in an objective response rate of 75% (24/32) in evaluable patients (pts) with advanced systemic mastocytosis, at 10.4 mo median follow-up, 84% (52/62) of pts remained on study, with median overall survival (OS) not reached, median time to response of 2 mo, an estimated 12 mo OS of 87%, and KIT D816V allele reduction in 53% of pts (33/62) (AACR Annual Meeting, Apr 2021, Abstract CT023; NCT03580655). detail...
KIT D816V hematologic cancer sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and growth of transformed hematologic cells expressing KIT D816V in culture (PMID: 31309543). 31309543
KIT D816V mast cell neoplasm predicted - sensitive Avapritinib Phase I Actionable In a Phase I trial, patients with either aggressive systemic mastocytosis, mast cell leukemia, or systemic mastocytosis with an associated hematologic neoplasm harboring KIT D816V demonstrated a reduction in mast cell burden and a decrease in KIT D816V allelic fraction when treated with Ayvakit (avapritinib) (ASH Annual Meeting, Dec 2017, Plenary 2). detail...
KIT D816V acute myeloid leukemia sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and growth of erythroleukemia cells expressing KIT D816V in culture (PMID: 31309543). 31309543
KIT D816V Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816V were sensitive to treatment with Ayvakit (avapritinib) in culture, demonstrating decreased cell proliferation (PMID: 31270078). 31270078
KIT D816V Advanced Solid Tumor resistant Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816V were resistant to treatment with Flumatinib in culture (PMID: 24205792). 24205792
KIT D816V acute myeloid leukemia sensitive Cytarabine + Dasatinib Case Reports/Case Series Actionable In a clinical case study, a patient with acute myeloid leukemia harboring KIT D816V achieved long-term remission and loss of KIT D816V following treatment with the combination of Sprycel (dasatinib) and Cytosar-U (cytarabine) (PMID: 18986703). 18986703
KIT D816V Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited proliferation of transformed cells expressing KIT D816V in culture (PMID: 31085175). 31085175
KIT D816V Advanced Solid Tumor predicted - sensitive BPR1J373 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816V were sensitive to BPR1J373, demonstrating inhibition of Kit phosphorylation (PMID: 27512117). 27512117
KIT D816V hematologic cancer sensitive FF-10101 Preclinical - Cell culture Actionable In a preclinical study, FF-10101, as compared to Quizartinib, inhibited cell proliferation of transformed 32Dcl3 murine myeloid cells expressing human Kit D816V (PMID: 29187377). 29187377
KIT V560G KIT D816V mast-cell leukemia sensitive Dasatinib Preclinical Actionable In a preclinical study, Sprycel (dasatinib) inhibited growth and induced apoptosis in a mast-cell leukemia cell line harboring both KIT V560G and KIT D816V in culture (PMID: 18024392). 18024392
KIT V560G KIT D816V mast cell neoplasm resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, mast cells harboring both KIT D816V and KIT V560G were resistant to Gleevec (imatinib) in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560G and D816V demonstrated resistance to Gleevec (imatinib) treatment in culture (PMID: 30523507). 30523507
KIT V560G KIT D816V mast cell neoplasm sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited proliferation of mast cells harboring KIT D816V and KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V mast-cell leukemia sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited growth of a human mast cell line harboring both KIT V560G and KIT D816V in culture (PMID: 24552773). 24552773
KIT V560G KIT D816V mast cell neoplasm resistant Quizartinib Preclinical Actionable In a preclinical study, KIT D816V conferred resistance to Quizartinib in a mast cell line harboring both KIT V560G and KIT D816V in culture (PMID: 23497317). 23497317
KIT V560G KIT D816V mast cell neoplasm resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, mast cells harboring both KIT D816V and KIT V560G were resistant to Stivarga (regorafenib) in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V mast cell neoplasm resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, mast cells harboring both KIT D816V and KIT V560G were resistant to Sutent (sunitinib) in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V Advanced Solid Tumor sensitive PLX9486 Preclinical - Cell culture Actionable In a preclinical study, PLX9486 treatment inhibited proliferation of Gleevec (imatinib)-resistant transformed cells expressing KIT V560G and D816V in culture (PMID: 30523507). 30523507
KIT V560G KIT D816V mast cell neoplasm sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited proliferation of mast cells harboring KIT D816V and KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V mast-cell leukemia sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of a mast cell leukemia cell line harboring KIT D816V and V560G in culture (PMID: 29093181). 29093181
KIT V560G KIT D816V mast cell neoplasm sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited proliferation of mast cells harboring KIT D816V and KIT V560G in culture, and inhibited tumor growth in cell line xenograft models (PMID: 31085175). 31085175
KIT V560G KIT D816V mast-cell leukemia sensitive BPR1J373 Preclinical - Cell culture Actionable In a preclinical study, a mast-cell leukemia cell line simultaneously harboring KIT D816V and KIT V560G was sensitive to BPR1J373 in culture, demonstrating inhibition of Kit phosphorylation and apoptotic activity (PMID: 27512117). 27512117
KIT D816V NRAS Q61R melanoma no benefit Pembrolizumab + Trametinib Case Reports/Case Series Actionable In a clinical case study, a melanoma patient harboring KIT D816V and NRAS Q61R demonstrated progressive disease when treated with a combination of Mekinist (trametinib) and Keytruda (pembrolizumab) (PMID: 28514312). 28514312
KIT T670I KIT D816V Advanced Solid Tumor decreased response Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670I demonstrated a decreased response compared to cells expressing KIT D816V alone when treated with Rydapt (midostaurin) in culture (PMID: 31270078). 31270078
KIT T670I KIT D816V Advanced Solid Tumor resistant Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670I demonstrated resistance to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT N655K KIT D816V Advanced Solid Tumor resistant Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT N655K demonstrated resistance to treatment with Rydapt (midostaurin) in culture compared to cells expressing KIT D816V alone (PMID: 31270078). 31270078
KIT N655K KIT D816V Advanced Solid Tumor predicted - sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT N655K demonstrated some sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT Y672C KIT D816V Advanced Solid Tumor decreased response Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT Y672C demonstrated a decreased response compared to cells expressing KIT D816V alone when treated with Rydapt (midostaurin) in culture (PMID: 31270078). 31270078
KIT Y672C KIT D816V Advanced Solid Tumor predicted - sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT Y672C demonstrated some sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT D677N KIT D816V Advanced Solid Tumor resistant Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT D677N demonstrated resistance to treatment with Rydapt (midostaurin) in culture compared to cells expressing KIT D816V alone (PMID: 31270078). 31270078
KIT D677N KIT D816V Advanced Solid Tumor predicted - sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT D677N demonstrated some sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT V654A KIT D816V Advanced Solid Tumor resistant Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT V654A demonstrated resistance to treatment with Rydapt (midostaurin) in culture compared to cells expressing KIT D816V alone (PMID: 31270078). 31270078
KIT V654A KIT D816V Advanced Solid Tumor predicted - sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT V654A demonstrated some sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT T670V KIT D816V Advanced Solid Tumor sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670V were sensitive to treatment with Rydapt (midostaurin) in culture, demonstrating decreased cell proliferation (PMID: 31270078). 31270078
KIT T670V KIT D816V Advanced Solid Tumor predicted - resistant Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670V demonstrated some resistance to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT T670A KIT D816V Advanced Solid Tumor sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670A were sensitive to treatment with Rydapt (midostaurin) in culture, demonstrating decreased cell proliferation (PMID: 31270078). 31270078
KIT T670A KIT D816V Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670A demonstrated sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT D816H Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816H were resistant to Gleevec (imatinib) treatment in culture (PMID: 35194937). 35194937
KIT D816H Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, cells expressing KIT D816H demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT D816H Advanced Solid Tumor resistant Regorafenib Preclinical Actionable In a preclinical study, KIT D816H demonstrated resistance to Stivarga (regorafenib) in an in vitro assay, and conferred secondary resistance to Stivarga (regorafenib) in transformed cells expressing other KIT mutations (PMID: 25239608). 25239608
KIT D816H Advanced Solid Tumor predicted - sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816H were more sensitive to treatment with Sutent (sunitinib) in culture compared to Gleevec (imatinib) (PMID: 24205792). 24205792
KIT D816H Advanced Solid Tumor predicted - sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816H were more sensitive to treatment with Flumatinib in culture compared to Gleevec (imatinib) (PMID: 24205792). 24205792
KIT W557_K558del KIT D816H gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT W557_K558del progressed after experiencing stable disease on treatment with Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT D816H (PMID: 18294292). 18294292
KIT W557_K558del KIT D816H Advanced Solid Tumor decreased response Imatinib Preclinical - Cell line xenograft Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816H demonstrated a decreased response to treatment with Gleevec (imatinib) in both culture and xenograft models, resulting in only a slight decrease in tumor volume (PMID: 25239608). 25239608
KIT W557_K558del KIT D816H Advanced Solid Tumor sensitive Ponatinib Preclinical - Cell line xenograft Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816H demonstrated sensitivity to treatment with Iclusig (ponatinib) in both culture and cell line xenograft models, resulting in reduced cell viability and tumor regression (PMID: 25239608). 25239608
KIT W557_K558del KIT D816H Advanced Solid Tumor decreased response Regorafenib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816H demonstrated a decreased response to treatment with Stivarga (regorafenib) in culture (PMID: 25239608). 25239608
KIT W557_K558del KIT D816H Advanced Solid Tumor decreased response Sunitinib Preclinical - Cell line xenograft Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816H demonstrated a decreased response to treatment with Sutent (sunitinib) in both culture and cell line xenograft models, resulting in only a slight decrease in tumor volume (PMID: 25239608). 25239608
KIT W557_K558del KIT D816H Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D816H demonstrated sensitivity to Ayvakit (avapritinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT W557_K558del KIT D816H Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D816H demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT W557_K558del KIT D816H Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell line xenograft Actionable In a preclinical study, AZD3229 inhibited growth of cells in culture and tumor growth in a cell line xenograft model of transformed cells expressing KIT W557_K558del and KIT D816H (PMID: 32350132). 32350132
KIT V560D KIT D816H Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT V560D KIT D816H Advanced Solid Tumor resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated resistance to Stivarga (regorafenib) in culture (PMID: 32350132). 32350132
KIT V560D KIT D816H Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132). 32350132
KIT V560D KIT D816H Advanced Solid Tumor decreased response Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated a decreased response to treatment with Ayvakit (avapritinib) compared to cells expressing KIT V560D alone in culture (PMID: 32350132). 32350132
KIT V560D KIT D816H Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D KIT D816H Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT A502_Y503dup KIT D816H Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT D816H Advanced Solid Tumor resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated resistance to Stivarga (regorafenib) in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT D816H Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT D816H Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated increased sensitivity to treatment with Ayvakit (avapritinib) compared to cells expressing KIT A502_Y503dup alone in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT D816H Advanced Solid Tumor decreased response Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated a decreased response to treatment with Qinlock (ripretinib) compared to cells expressing KIT A502_Y503dup alone in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT D816H Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT exon 11 del KIT D816H Advanced Solid Tumor predicted - sensitive THE-630 Preclinical - Cell culture Actionable In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT D816H in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). detail...
KIT W557_K558del KIT V654G KIT D816H gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT W557_K558del and D816H progressed on sixth-line treatment with Qinlock (ripretinib) after 11.5 months and was found to have acquired KIT V654G in the metastatic lesion (PMID: 38408285). 38408285
KIT exon 11 del KIT D816A gastrointestinal stromal tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT D816A demonstrated resistance to Sutent (sunitinib) in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT D816A gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT D816A in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A KIT D816A gastrointestinal stromal tumor resistant Ripretinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT V654A and D816A demonstrated resistance to Qinlock (ripretinib) in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A KIT D816A gastrointestinal stromal tumor resistant Ripretinib + Sunitinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT V654A and D816A demonstrated resistance to the combination of Qinlock (ripretinib) and Sutent (sunitinib) in culture (PMID: 38408285). 38408285
KIT D816F Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816F were resistant to Gleevec (imatinib mesylate) in culture (PMID: 16397263). 16397263
KIT D816Y mast cell neoplasm predicted - resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) were resistant to Gleevec (imatinib) in culture (PMID: 31085175). 31085175
KIT D816Y Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816Y were resistant to Gleevec (imatinib mesylate) in culture (PMID: 16397263). 16397263
KIT D816Y Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816Y were resistant to treatment with Gleevec (imatinib) in culture (PMID: 24205792). 24205792
KIT D816Y mast cell neoplasm predicted - sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited proliferation of mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) in culture (PMID: 31085175). 31085175
KIT D816Y mast cell neoplasm predicted - resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) were resistant to Stivarga (regorafenib) in culture (PMID: 31085175). 31085175
KIT D816Y mast cell neoplasm decreased response Sunitinib Preclinical - Cell culture Actionable In a preclinical study, mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) demonstrated reduced response to growth inhibition by Sutent (sunitinib) compared to GIST cells harboring KIT exon 11 deletion in culture (PMID: 31085175). 31085175
KIT D816Y Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816Y were resistant to treatment with Sutent (sunitinib) in culture (PMID: 24205792). 24205792
KIT D816Y mast cell neoplasm predicted - sensitive Avapritinib Preclinical Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of murine mastocytoma cells harboring KIT D814Y (corresponding to human D816Y) in culture, and resulted in tumor regression in allograft animal models (PMID: 29093181). 29093181
KIT D816Y Advanced Solid Tumor resistant Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816Y were resistant to treatment with Flumatinib in culture (PMID: 24205792). 24205792
KIT D816Y mast cell neoplasm predicted - sensitive Ripretinib Preclinical Actionable In a preclinical study, Qinlock (ripretinib) inhibited proliferation of mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) in culture, and resulted in tumor growth inhibition in allograft models (PMID: 31085175). 31085175
KIT D820Y melanoma sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, Sprycel (dasatinib) inhibited MNK pathway activation and proliferation of melanoma cell lines harboring KIT D820Y in culture (PMID: 29035277). 29035277
KIT D820Y melanoma resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib mesylate) failed to inhibit MNK pathway activation and proliferation of melanoma cell lines harboring KIT D820Y in culture (PMID: 29035277). 29035277
KIT D820Y Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT D820Y in culture (PMID: 35194937). 35194937
KIT D820Y melanoma predicted - sensitive Sorafenib Case Reports/Case Series Actionable In a clinical case study, Nexavar (sorafenib) treatment resulted in stable disease with 27% reduction in target lesions at 4 weeks in a patient with anal melanoma and pulmonary metastases harboring KIT D820Y (PMID: 20372153). 20372153
KIT D820Y melanoma predicted - sensitive Ripretinib Case Reports/Case Series Actionable In a Phase I trial, Qinlock (ripretinib) treatment resulted in a complete response in a patient with metastatic melanoma harboring KIT D820Y (PMID: 35753087; NCT02571036). 35753087
KIT D820Y melanoma sensitive SEL201 Preclinical - Cell line xenograft Actionable In a preclinical study, SEL201 inhibited MNK pathway signaling and growth of melanoma cell lines harboring KIT D820Y in culture, and suppressed tumor metastasis in xenograft models (PMID: 29035277). 29035277
KIT V555_L576del KIT D820G KIT D820Y gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT D820G and KIT D820Y were identified as secondary mutations in a patient with gastrointestinal stromal tumor harboring a primary KIT V555_L576del mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160). 18488160
KIT Y568_L576delinsCV KIT D816E KIT D820Y gastrointestinal stromal tumor predicted - sensitive Ripretinib Case Reports/Case Series Actionable In a Phase I trial, treatment with Qinlock (ripretinib) decreased circulating tumor DNA, resulted in stable disease lasting over 21 months in a patient with gastrointestinal stromal tumor harboring a primary KIT Y568_L576delinsCV mutation and two acquired resistance mutations, KIT D816E and KIT D820Y (PMID: 31085175; NCT02571036). 31085175
KIT Y553S KIT W557_Q575del KIT D820Y gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT D820Y was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring primary KIT W557_Q575del (reported as Q556_T574del) and KIT Y553S mutations, who developed resistance to Gleevec (imatinib) (PMID: 18488160). 18488160
KIT exon 11 del KIT D820Y gastrointestinal stromal tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT D820Y in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT D820Y gastrointestinal stromal tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT D820Y demonstrated resistance to Sutent (sunitinib) in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT D820Y gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT D820Y in culture (PMID: 38408285). 38408285
KIT P551_E554delinsQ KIT S645_L647dup KIT D820Y gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT P551_E554delinsQ and D820Y progressed on third-line treatment with Qinlock (ripretinib) after 29 months and was found to have acquired KIT S645_L647dup (reported as L647_G648insSYL) in the metastatic lesion (PMID: 38408285). 38408285
KIT N822I Advanced Solid Tumor sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, Sprycel (dasatinib) inhibited growth and induced apoptosis of transformed cells expressing KIT N822I in culture (PMID: 21689725). 21689725
KIT N822I Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N822I demonstrated resistance to Gleevec (imatinib) in culture (PMID: 21689725). 21689725
KIT V559X KIT N822I melanoma predicted - sensitive Imatinib + Pembrolizumab Case Reports/Case Series Actionable In a clinical case study, addition of Gleevec (imatinib) to Keytruda (pembrolizumab) in a patient with metastatic melanoma harboring an unspecified KIT V559 mutation and a KIT N822I resulted in a complete remission after 6 months and the patient stayed on therapy for 2 years (PMID: 31689840). 31689840
KIT N822K hematologic cancer sensitive Crenolanib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N822K were sensitive to treatment with Crenolanib in culture, demonstrating reduced cell survival (PMID: 31182436). 31182436
KIT N822K hematologic cancer sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N822K were sensitive to treatment with Sprycel (dasatinib) in culture, demonstrating reduced cell survival (PMID: 31182436). 31182436
KIT N822K acute myeloid leukemia decreased response Imatinib Preclinical - Cell culture Actionable In a preclinical study, acute myeloid leukemia cells harboring KIT N822K demonstrated reduced response to growth inhibition by Gleevec (imatinib) compared to GIST cells harboring KIT exon 11 deletion in culture (PMID: 31085175). 31085175
KIT N822K gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, KIT N822K was identified in the tumor of a gastrointestinal stromal tumor patient who was resistant to Gleevec (imatinib) treatment (PMID: 26316776). 26316776
KIT N822K Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N822K were resistant to treatment with Gleevec (imatinib) in culture (PMID: 24205792). 24205792
KIT N822K acute myeloid leukemia sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited proliferation of acute myeloid leukemia cells harboring KIT N822K in culture (PMID: 31085175). 31085175
KIT N822K leukemia sensitive Ponatinib Preclinical - Cell culture Actionable In a preclinical study, Iclusig (ponatinib) inhibited Kit signaling and viability in leukemia cells harboring KIT N822K in culture (PMID: 21482694). 21482694
KIT N822K acute myeloid leukemia sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Stivarga (regorafenib) inhibited proliferation of acute myeloid leukemia cells harboring KIT N822K in culture (PMID: 31085175). 31085175
KIT N822K acute myeloid leukemia predicted - sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, an acute myeloid leukemia cell line harboring KIT N822K demonstrated increased sensitivity to Sutent (sunitinib) compared to cells with wild-type KIT, resulting in increased inhibition of colony formation, and induction of cell-cycle arrest, apoptosis, and autophagy in culture (PMID: 31217744). 31217744
KIT N822K acute myeloid leukemia predicted - sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of acute myeloid leukemia cells harboring KIT N822K in culture (PMID: 31085175). 31085175
KIT N822K Advanced Solid Tumor predicted - sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N822K were more sensitive to treatment with Sutent (sunitinib) in culture compared to Gleevec (imatinib), demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT N822K thymus squamous cell carcinoma predicted - sensitive Avapritinib Case Reports/Case Series Actionable In a clinical case study, Ayvakit (avapritinib) resulted in stable disease in a patient with thymus squamous cell carcinoma harboring KIT N822K (PMID: 35820244). 35820244
KIT N822K acute myeloid leukemia sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of acute myeloid leukemia cells harboring KIT N822K in culture (PMID: 29093181). 29093181
KIT N822K mucosal melanoma predicted - sensitive Avapritinib Case Reports/Case Series Actionable In a clinical case study, Ayvakit (avapritinib) resulted in a partial response in extracranial lesions and stable disease in the central nervous lesions that lasted for 11 months in a patient with mucosal melanoma harboring KIT N822K (PMID: 35820244). 35820244
KIT N822K Advanced Solid Tumor predicted - sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N822K were more sensitive to treatment with Flumatinib in culture compared to Gleevec (imatinib), demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT N822K acute myeloid leukemia sensitive Ripretinib Preclinical - Pdx Actionable In a preclinical study, Qinlock (ripretinib) induced tumor regression in a patient-derived xenograft (PDX) model of acute myeloid leukemia harboring KIT N822K (Cancer Res 2015;75(15 Suppl):Abstract nr 2690). detail...
KIT N822K acute myeloid leukemia sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited proliferation of acute myeloid leukemia cells harboring KIT N822K in culture (PMID: 31085175). 31085175
KIT N822K acute myeloid leukemia sensitive BPR1J373 Preclinical - Cell line xenograft Actionable In a preclinical study, an acute myeloid leukemia cell line harboring KIT N822K demonstrated sensitivity to treatment with BPR1J373, showing inhibition of Kit phosphorylation and apoptotic induction in culture, and tumor regression in xenograft models (PMID: 27512117). 27512117
KIT N822K acute myeloid leukemia decreased response RMC-4550 Preclinical - Cell culture Actionable In a preclinical study, acute myeloid leukemia cell lines harboring KIT N822K demonstrated decreased sensitivity to RMC-4550 treatment compared to cell lines harboring FLT3 ITD in culture (PMID: 37992684). 37992684
KIT N822K acute myeloid leukemia sensitive Trametinib + Venetoclax Preclinical - Cell culture Actionable In a preclinical study, the combination of Venclexta (venetoclax) and Mekinist (trametinib) synergistically inhibited proliferation in acute myeloid leukemia cell lines harboring KIT N822K in culture (PMID: 37992684). 37992684
KIT N822K acute myeloid leukemia sensitive RMC-4550 + Venetoclax Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of RMC-4550 and Venclexta (venetoclax) synergistically inhibited viability and induced apoptosis in an acute myeloid leukemia cell line harboring KIT N822K in culture, and reduced tumor burden and improved survival in a cell line xenograft model (PMID: 37992684). 37992684
KIT W557_K558del KIT N822K Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT N822K were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT N822K Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT N822K demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT N822K Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT N822K were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT N822K Advanced Solid Tumor conflicting Regorafenib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT N822K were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT N822K Advanced Solid Tumor conflicting Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT N822K was sensitive to treatment with Stivarga (regorafenib), demonstrating decreased cell viability in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT N822K Advanced Solid Tumor resistant Sunitinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT N822K were resistant to Sutent (sunitinb) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT N822K Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT N822K demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT N822K gastrointestinal stromal tumor predicted - resistant Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, KIT N822K was identified as a secondary resistance mutation in a patient with a gastrointestinal stromal tumor harboring a primary KIT W557_K558del mutation who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) (PMID: 35041493; NCT01991379). 35041493
KIT W557_K558del KIT N822K Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del and KIT N822K in culture, but was less effective compared to other treatments (PMID: 32350132). 32350132
KIT W557_K558del KIT N822K Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT N822K demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT W557_K558del KIT N822K Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT N822K demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT A502_Y503dup KIT N822K gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT N822K was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring a primary KIT A502_Y503dup mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160). 18488160
KIT A502_Y503dup KIT N822K gastrointestinal stromal tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring KIT A502_Y503dup and expressing KIT N822K demonstrated resistance to Sutent (sunitinib) in culture (PMID: 38408285). 38408285
KIT A502_Y503dup KIT N822K gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring KIT A502_Y503dup and expressing KIT N822K in culture (PMID: 38408285). 38408285
KIT W557_K558delinsCE KIT N822K gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT N822K was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring a primary KIT W557_K558delinsCE mutation, who developed resistance to Gleevec (imatinib mesylate) (PMID: 18488160). 18488160
KIT V569_L576del KIT V654A KIT N822K gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT V654A and KIT N822K were identified as secondary mutations in a patient with gastrointestinal stromal tumor harboring a primary KIT V569_L576del mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160). 18488160
KIT K642E KIT N822K gastrointestinal stromal tumor sensitive Regorafenib Preclinical - Pdx Actionable In a preclinical study, Stivarga (regorafenib) suppressed tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT K642E and KIT N822K, but was less potent in comparison to treatment with AZD3229 (PMID: 32350132). 32350132
KIT K642E KIT N822K gastrointestinal stromal tumor sensitive AZD3229 Preclinical - Pdx Actionable In a preclinical study, AZD3229 inhibited Kit signaling and tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT K642E and KIT N822K (PMID: 32350132). 32350132
KIT exon 11 del KIT N822K gastrointestinal stromal tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT N822K demonstrated resistance to Sutent (sunitinib) in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT N822K gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT N822K in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT N822K Advanced Solid Tumor predicted - sensitive THE-630 Preclinical - Cell culture Actionable In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT N822K in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). detail...
KIT V560D KIT D820G KIT N822K KIT Y870* gastrointestinal stromal tumor predicted - resistant Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, KIT N822K and KIT D820G were identified as secondary resistance mutations in a patient with a gastrointestinal stromal tumor harboring primary KIT Y870* and V560D mutations who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) treatment (PMID: 35041493; NCT01991379). 35041493
KIT V560del KIT N822K gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT V560del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT N822K (PMID: 18294292). 18294292
KIT V555_D572del KIT N822K gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT V555_D572del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT N822K (PMID: 18294292). 18294292
KIT exon 11 del KIT V654A KIT N822K gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT N822K and V654A in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A KIT N822K gastrointestinal stromal tumor resistant Ripretinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT V654A and N822K demonstrated resistance to Qinlock (ripretinib) in culture (PMID: 38408285). 38408285
KIT A502_Y503dup KIT T574_P577del KIT V654A KIT N822K gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT A502_Y503dup progressed on third-line treatment with Qinlock (ripretinib) after 7.0 months and was found to have acquired KIT T574_P577del (reported as P573_L576del), V654A, and N822K in one of the metastatic lesions (PMID: 38408285). 38408285
KIT Y823D Advanced Solid Tumor sensitive Motesanib Diphosphate Preclinical - Cell culture Actionable In a preclinical study, Motesanib (AMG 706) inhibited KIT phosphorylation and growth of cells expressing KIT Y823D in culture (PMID: 20633291). 20633291
KIT Y823D Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT Y823D in culture (PMID: 35194937). 35194937
KIT Y823D melanoma predicted - sensitive Ripretinib Case Reports/Case Series Actionable In a Phase I trial, Qinlock (ripretinib) treatment resulted in a complete response in a patient with metastatic melanoma harboring KIT Y823D (PMID: 35753087; NCT02571036). 35753087
KIT W557_K558del KIT Y823D gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, two patients with gastrointestinal stromal tumors harboring KIT W557_K558del progressed following an initial response to Gleevec (imatinib), and were found to have acquired the secondary resistance mutation KIT Y823D in one lesion (PMID: 18294292). 18294292
KIT W557_K558del KIT Y823D Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT Y823D demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT Y823D gastrointestinal stromal tumor sensitive Ponatinib Preclinical - Pdx & cell culture Actionable In a preclinical study, a patient derived GIST cell line co-harboring KIT W557_K558del and KIT Y823D demonstrated sensitivity to Iclusig (ponatinib) in a PDX model, resulting in complete tumor regression (PMID: 25239608). 25239608
KIT W557_K558del KIT Y823D gastrointestinal stromal tumor sensitive Regorafenib Preclinical - Pdx Actionable In a preclinical study, Stivarga (regorafenib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_K558del and KIT Y823D (PMID: 32350132). 32350132
KIT W557_K558del KIT Y823D Advanced Solid Tumor predicted - sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT Y823D demonstrated sensitivity to treatment with Stivarga (regorafenib), but was decreased compared to cells expressing KIT W557_K558del alone in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT Y823D Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT Y823D demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT Y823D gastrointestinal stromal tumor sensitive PLX9486 Preclinical - Pdx Actionable In a preclinical study, PLX9486 treatment decreased Mapk phosphorylation, inhibited proliferation, and reduced tumor growth and induced regression in a Gleevec (imatinib)-resistant patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_K558del and Y823D (PMID: 30523507). 30523507
KIT W557_K558del KIT Y823D gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Pdx Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and resulted in tumor regression in patient-derived xenograft models of Gleevec (imatinib mesylate)-resistant gastrointestinal stromal tumor harboring KIT W557_K558del and Y823D (PMID: 29093181). 29093181
KIT W557_K558del KIT Y823D Advanced Solid Tumor decreased response Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT Y823D demonstrated a decreased response to treatment with Ayvakit (avapritinib) compared to cells expressing KIT W557_K558del alone in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT Y823D gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Pdx Actionable In a preclinical study, Qinlock (ripretinib) induced tumor regression in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_K558del and KIT Y823D (PMID: 31085175). 31085175
KIT W557_K558del KIT Y823D Advanced Solid Tumor decreased response Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT Y823D demonstrated a decreased response to treatment with Qinlock (ripretinib) compared to cells expressing KIT W557_K558del alone in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT Y823D gastrointestinal stromal tumor sensitive AZD3229 Preclinical - Pdx Actionable In a preclinical study, AZD3229 inhibited Kit signaling and tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_K558del and KIT Y823D (PMID: 32350132). 32350132
KIT W557_K558del KIT Y823D Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT Y823D demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT exon 11 del KIT Y823D Advanced Solid Tumor predicted - sensitive THE-630 Preclinical - Cell culture Actionable In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT Y823D in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). detail...
KIT P551I KIT M552_V559del KIT Y823D gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT M552_V559del and KIT P551I progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT Y823D (PMID: 18294292). 18294292
KIT Q556_V559delinsH KIT Y823D gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT Q556_V559delinsH and Y823D progressed on fourth-line treatment with Qinlock (ripretinib) after 22.1 months and was found to have acquired KIT Y646C in the metastatic lesion (PMID: 38408285). 38408285
KIT A829P Advanced Solid Tumor sensitive Axitinib Preclinical - Cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT A829P in culture, however, with decreased potency compared to its potency against other KIT variants (PMID: 31205508). 31205508
KIT A829P melanoma sensitive Dasatinib Preclinical Actionable In a preclinical study, Sprycel (dasatinib) demonstrated efficacy by inhibiting proliferation of cultured melanoma cells expressing KIT A829P (PMID: 23582185, PMID: 25594040). 23582185 25594040
KIT A829P melanoma resistant Imatinib Preclinical Actionable In a preclinical study, melanoma cells expressing KIT A829P demonstrated resistance to treatment with Gleevec (imatinib mesylate) (PMID: 23582185, PMID: 25594040). 23582185 25594040
KIT A829P melanoma sensitive Nilotinib Preclinical Actionable In a preclinical study, Tasigna (nilotinib) demonstrated efficacy by inhibiting proliferation of cultured melanoma cells expressing KIT A829P (PMID: 23582185, PMID: 25594040). 23582185 25594040
KIT A829P Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT A829P in culture (PMID: 35194937). 35194937
KIT A829P Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, cells expressing KIT A829P demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT A829P melanoma resistant Sunitinib Preclinical Actionable In a preclinical study, melanoma cells expressing KIT A829P demonstrated resistance to treatment with Sutent (sunitinib) (PMID: 23582185, PMID: 25594040). 23582185 25594040
KIT V560_Y578del KIT A829P gastrointestinal stromal tumor decreased response Sunitinib Preclinical Actionable In a preclinical study, a patient derived GIST cell line co-harboring KIT V560_Y578del and KIT A829P demonstrated a decreased response to treatment with Sutent (sunitinib) (PMID: 25239608). 25239608
KIT W557_K558del KIT A829P Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT A829P were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT A829P Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT A829P demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT A829P Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT A829P were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT A829P Advanced Solid Tumor conflicting Regorafenib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT A829P were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT A829P Advanced Solid Tumor conflicting Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT A829P were sensitive to treatment with Stivarga (regorafenib), but demonstrated a decreased response compared to cells expressing KIT W557_K558del alone in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT A829P Advanced Solid Tumor resistant Sunitinib Preclinical - Biochemical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT A829P were resistant to Sutent (sunitinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT A829P Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT A829P demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT A829P Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del and KIT A829P in culture, but was less effective compared to other treatments (PMID: 32350132). 32350132
KIT W557_K558del KIT A829P Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT A829P demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT W557_K558del KIT A829P Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT A829P demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT exon11 KIT A829P gastrointestinal stromal tumor sensitive Imatinib + MK2206 Preclinical - Cell culture Actionable In a preclinical study, the combination of Gleevec (imatinib) and MK2206 demonstrated synergy in inhibiting growth of a Gleevec (imatinib)-resistant gastrointestinal stromal tumor cell line harboring a KIT exon 11 mutation and KIT A829P in culture (PMID: 27370604). 27370604
KIT V559_G565del KIT V654A KIT A829P gastrointestinal stromal tumor predicted - sensitive Ripretinib Case Reports/Case Series Actionable In a Phase I trial, treatment with Qinlock (ripretinib) decreased circulating tumor DNA, resulted in stable disease lasting over 26 months in a patient with gastrointestinal stromal tumor harboring a primary KIT V559_G565del mutation and two acquired resistance mutations, KIT V654A and KIT A829P (PMID: 31085175; NCT02571036). 31085175
KIT exon 11 del KIT A829P gastrointestinal stromal tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT A829P demonstrated resistance to Sutent (sunitinib) in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT A829P gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT A829P in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT A829P Advanced Solid Tumor predicted - sensitive THE-630 Preclinical - Cell culture Actionable In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT A829P in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). detail...
KIT V560_D572del KIT A829P gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT KIT V560_D572del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT A829P (PMID: 18294292). 18294292
KIT exon 11 del KIT V654A KIT A829P gastrointestinal stromal tumor sensitive Crenolanib Preclinical - Cell culture Actionable In a preclinical study, Crenolanib (CP-868596) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT A829P and V654A in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A KIT A829P gastrointestinal stromal tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT A829P and V654A in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A KIT A829P gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT A829P and V654A in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A KIT A829P gastrointestinal stromal tumor resistant Ripretinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT V654A and A829P demonstrated resistance to Qinlock (ripretinib) in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A KIT A829P gastrointestinal stromal tumor resistant Ripretinib + Sunitinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT V654A and A829P demonstrated resistance to the combination of Qinlock (ripretinib) and Sutent (sunitinib) in culture (PMID: 38408285). 38408285
KIT K550_K558del KIT V654A KIT A829P gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT K550_K558del and KIT A829P progressed on fifth-line treatment with Qinlock (ripretinib) after 8.0 months and was found to have acquired KIT V654A in the metastatic lesion (PMID: 38408285). 38408285
KIT H697Y Advanced Solid Tumor decreased response Imatinib Preclinical Actionable In a preclinical study, transformed cell lines overexpressing KIT H697Y demonstrated reduced sensitivity to Gleevec (imatinib mesylate)-induced growth inhibition in culture (PMID: 19861435). 19861435
KIT H697Y Advanced Solid Tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, Sutent (sunitinib) inhibited growth of transformed cell lines overexpressing KIT H697Y in culture (PMID: 19861435). 19861435
KIT T670I Advanced Solid Tumor sensitive Axitinib Preclinical - Cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT T670I in culture, however, with decreased potency compared to its potency against other KIT variants (PMID: 31205508). 31205508
KIT T670I melanoma resistant Dasatinib Preclinical Actionable In a preclinical study, melanoma cells expressing KIT T670I demonstrated resistance to treatment with Sprycel (dasatinib) (PMID: 23582185, PMID: 25594040). 23582185 25594040
KIT T670I melanoma resistant Imatinib Preclinical Actionable In a preclinical study, melanoma cells expressing KIT T670I demonstrated resistance to treatment with Gleevec (imatinib mesylate) (PMID: 23582185, PMID: 25594040). 23582185 25594040
KIT T670I gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case report, a patient with a gastrointestinal stromal tumor developed disease progression while being treated with Gleevec (imatinib), demonstrating a KIT T670I mutation in the progressive lesion (PMID: 15236194). 15236194
KIT T670I Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T670I demonstrated resistance to Gleevec (imatinib) in culture (PMID: 35194937). 35194937
KIT T670I Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T670I were resistant to treatment with Gleevec (imatinib) in culture (PMID: 33212994). 33212994
KIT T670I melanoma resistant Nilotinib Preclinical Actionable In a preclinical study, melanoma cells expressing KIT T670I demonstrated resistance to treatment with Tasigna (nilotinib) (PMID: 23582185, PMID: 25594040). 23582185 25594040
KIT T670I Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell line xenograft Actionable In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT T670I in culture, and suppressed tumor growth in cell line xenograft models (PMID: 35194937). 35194937
KIT T670I Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, cells expressing KIT T670I demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT T670I Advanced Solid Tumor sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T670I demonstrated sensitivity to Stivarga (regorafenib) treatment in culture, resulting in reduced cell viability (PMID: 33212994). 33212994
KIT T670I melanoma sensitive Sunitinib Preclinical Actionable In a preclinical study, Sutent (sunitinib) demonstrated efficacy by inhibiting proliferation of cultured melanoma cells expressing KIT T670I (PMID: 23582185, PMID: 25594040). 23582185 25594040
KIT T670I Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT T670I in culture (PMID: 31205508). 31205508
KIT T670I Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT T670I in culture (PMID: 35194937). 35194937
KIT T670I Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T670I demonstrated sensitivity to Sutent (sunitinib) treatment in culture, resulting in reduced cell viability (PMID: 33212994). 33212994
KIT T670I Advanced Solid Tumor sensitive Cabozantinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T670I demonstrated sensitivity to Cometriq (Cabometyx, cabozantinib) treatment in culture, resulting in reduced cell viability (PMID: 33212994). 33212994
KIT T670I gastrointestinal stromal tumor predicted - resistant Avapritinib Phase I Actionable In a Phase I trial, patients with gastrointestinal stromal tumors harboring either KIT V654A or KIT T670I demonstrated decreased overall response rate (0%, 0/25 vs. 26%, 22/84) and increased progressive disease rate (72% vs 23%) compared to those without either KIT mutation when treated with Ayvakit (avapritinib) (PMID: 31270078; NCT02508532). 31270078
KIT W557_K558del KIT T670I Advanced Solid Tumor resistant Dasatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing a KIT W557_K558del/T670I double mutation demonstrated resistance to Sprycel (dasatinib) in culture (PMID: 17699867). 17699867
KIT W557_K558del KIT T670I gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT W557_K558del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT T670I (PMID: 18294292). 18294292
KIT W557_K558del KIT T670I Advanced Solid Tumor no benefit Imatinib Preclinical - Cell line xenograft Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT T670I demonstrated no response to treatment with Gleevec (imatinib) in both culture and xenograft models (PMID: 25239608). 25239608
KIT W557_K558del KIT T670I Advanced Solid Tumor resistant Nilotinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing a KIT W557_K558del/T670I double mutation demonstrated resistance to Tasigna (nilotinib) in culture (PMID: 17699867). 17699867
KIT W557_K558del KIT T670I Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT T670I demonstrated sensitivity to treatment with Iclusig (ponatinib) in both culture and cell line xenograft models, resulting in reduced cell viability and decreased tumor volume (PMID: 25239608). 25239608
KIT W557_K558del KIT T670I Advanced Solid Tumor decreased response Regorafenib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT T670I demonstrated a decreased response to treatment with Stivarga (regorafenib) compared to cells expressing KIT W557_K558del alone in culture (PMID: 25239608). 25239608
KIT W557_K558del KIT T670I Advanced Solid Tumor decreased response Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT T670I demonstrated a decreased response to treatment with Stivarga (regorafenib) compared to cells expressing KIT W557_K558del alone in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT T670I Advanced Solid Tumor sensitive Sorafenib Preclinical - Cell culture Actionable In a preclinical study, Nexavar (sorafenib) inhibited proliferation and induced apoptosis of transformed cells expressing a KIT W557_K558del/T670I double mutation in culture (PMID: 17699867). 17699867
KIT W557_K558del KIT T670I Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell line xenograft Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT T670I demonstrated sensitivity to treatment with Sutent (sunitinib) in both culture and cell line xenograft models, resulting in reduced cell viability, decreased tumor volume, and tumor regression (PMID: 25239608). 25239608
KIT W557_K558del KIT T670I Advanced Solid Tumor resistant Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT T670I demonstrated resistance to Ayvakit (avapritinib) in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT T670I Advanced Solid Tumor decreased response Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT T670I demonstrated a decreased response to treatment with Qinlock (ripretinib) compared to cells expressing KIT W557_K558del alone in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT T670I Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT T670I demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560_Y578del KIT T670I gastrointestinal stromal tumor sensitive Axitinib Preclinical - Cell line xenograft Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and downstream signaling, reduced proliferation, and induced cell-cycle arrest in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT T670I in culture, and inhibited tumor growth in xenograft models (PMID: 31205508). 31205508
KIT V560_Y578del KIT T670I gastrointestinal stromal tumor sensitive Nintedanib Preclinical - Cell line xenograft Actionable In a preclinical study, Ofev (nintedanib) decreased Kit phosphorylation and downstream signaling, induced cell-cycle arrest and apoptosis, and inhibited proliferation of a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and T670I in culture, and suppressed tumor growth in cell line xenograft models (PMID: 35194937). 35194937
KIT V560_Y578del KIT T670I gastrointestinal stromal tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, a patient derived GIST cell line co-harboring KIT V560_Y578del and KIT T670I demonstrated sensitivity to treatment with Iclusig (ponatinib) (PMID: 25239608). 25239608
KIT V560_Y578del KIT T670I gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, a patient-derived gastrointestinal stromal tumor (GIST) cell line co-harboring KIT V560_Y578del and KIT T670I demonstrated sensitivity to treatment with Sutent (sunitinib) (PMID: 25239608). 25239608
KIT V560_Y578del KIT T670I gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT T670I in culture (PMID: 31205508). 31205508
KIT V560_Y578del KIT T670I gastrointestinal stromal tumor sensitive Copanlisib Preclinical - Cell line xenograft Actionable In a preclinical study, Aliqopa (copanlisib) inhibited cell growth and PI3K signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT T670I in culture, and inhibited tumor growth in cell line xenograft models (PMID: 32371592). 32371592
KIT V560_Y578del KIT T670I gastrointestinal stromal tumor predicted - sensitive Copanlisib + Imatinib Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of Aliqopa (copanlisib) and Gleevec (imatinib) demonstrated enhanced cell growth inhibition but did not result in increased apoptosis of gastrointestinal stromal tumor cells harboring KIT V560_Y578del and KIT T670I in culture, and did not result in increased tumor growth inhibition compared to Aliqopa (copanlisib) alone in cell line xenograft models (PMID: 32371592). 32371592
KIT V560D KIT T670I Advanced Solid Tumor sensitive Motesanib Diphosphate Preclinical - Cell culture Actionable In a preclinical study, Motesanib (AMG 706) inhibited KIT phosphorylation and growth of cells expressing a KIT V560D/T670I double mutation in culture (PMID: 20633291). 20633291
KIT V560D KIT T670I Advanced Solid Tumor resistant Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT V560D and KIT T670I were resistant to Flumatinib in culture (PMID: 24205792). 24205792
KIT exon11 KIT T670I gastrointestinal stromal tumor resistant Imatinib Preclinical - Pdx Actionable In a preclinical study, Gleevec (imatinib mesylate) did not inhibit Kit, Erk signaling and resulted in limited (53.9%) tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT exon 11 mutation (K550_splice) and KIT T670I, which was established from a patient who did not respond to Gleevec (imatinib mesylate) (PMID: 29100343). 29100343
KIT exon11 KIT T670I gastrointestinal stromal tumor predicted - sensitive Regorafenib Preclinical - Pdx Actionable In a preclinical study, Stivarga (regorafenib) inhibited Kit signaling, resulted in tumor growth inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT exon 11 mutation (K550_splice) and KIT T670I, which was established from a patient who did not respond to Gleevec (imatinib mesylate) (PMID: 29100343). 29100343
KIT exon11 KIT T670I gastrointestinal stromal tumor predicted - sensitive Sunitinib Preclinical - Pdx Actionable In a preclinical study, Sutent (sunitinib) inhibited Kit signaling, resulted in 86.7% tumor growth inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT exon 11 mutation (K550_splice) and KIT T670I, which was established from a patient who did not respond to Gleevec (imatinib mesylate) (PMID: 29100343). 29100343
KIT exon 11 del KIT T670I gastrointestinal stromal tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT T670I were resistant to Gleevec (imatinib) in culture (PMID: 31085175). 31085175
KIT exon 11 del KIT T670I gastrointestinal stromal tumor sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT T670I in culture (PMID: 31085175). 31085175
KIT exon 11 del KIT T670I gastrointestinal stromal tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT T670I in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT T670I gastrointestinal stromal tumor sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Stivarga (regorafenib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT T670I in culture (PMID: 31085175). 31085175
KIT exon 11 del KIT T670I gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT T670I in culture (PMID: 31085175). 31085175
KIT exon 11 del KIT T670I gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT T670I in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT T670I gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT T670I in culture (PMID: 31085175). 31085175
KIT exon 11 del KIT T670I gastrointestinal stromal tumor predicted - resistant Ripretinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT T670I demonstrated resistance to Qinlock (ripretinib) in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT T670I gastrointestinal stromal tumor predicted - resistant Ripretinib Preclinical - Cell culture Actionable In a preclinical study, gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT T670I demonstrated reduced response to growth inhibition by Qinlock (ripretinib) compared to cells harboring KIT exon 11 deletion alone in culture (PMID: 31085175). 31085175
KIT exon 11 del KIT T670I Advanced Solid Tumor predicted - sensitive THE-630 Preclinical - Cell culture Actionable In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT T670I in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). detail...
KIT V559_E561del KIT T670I gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT V559_E561del and KIT D820Y progressed on third-line treatment with Qinlock (ripretinib) after 2.5 months and was found to have lost KIT D820Y but acquired KIT T670I in the metastatic lesion (PMID: 38408285). 38408285
KIT Q556_V559delinsH KIT T670I gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT Q556_V559delinsH progressed on third-line treatment with Qinlock (ripretinib) after 5.0 months and was found to have acquired KIT T670I in the metastatic lesion (PMID: 38408285). 38408285
KIT N655K gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with gastrointestinal stromal tumor (GIST) harboring a germline KIT N655K mutation, associated with hereditary GIST syndrome, demonstrated slow disease progression for 12 months while on treatment with Gleevec (imatinib) at 400mg/d, and upon disease progression following surgery and 15 months of Sutent (sunitinib) treatment, was rechallenged with Gleevec (imatinib) at 800mg/d and remained stable for a further 9 months (PMID: 33212994). 33212994
KIT N655K Advanced Solid Tumor predicted - sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N655K demonstrated some sensitivity to Gleevec (imatinib) treatment in culture, resulting in reduced cell viability at high treatment dosages (PMID: 33212994). 33212994
KIT N655K Advanced Solid Tumor decreased response Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N655K demonstrated a reduced response to Stivarga (regorafenib) treatment compared to cells expressing KIT T670I in culture (PMID: 33212994). 33212994
KIT N655K Advanced Solid Tumor decreased response Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N655K demonstrated a reduced response to Sutent (sunitinib) treatment compared to cells expressing KIT T670I in culture (PMID: 33212994). 33212994
KIT N655K Advanced Solid Tumor decreased response Cabozantinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N655K demonstrated a reduced response to Cometriq (Cabometyx, cabozantinib) treatment compared to cells expressing KIT T670I in culture (PMID: 33212994). 33212994
KIT N655K Advanced Solid Tumor predicted - sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N655K demonstrated some sensitivity to Ayvakit (avapritinib) in culture, but were less sensitive than cells expressing KIT W557_K558del (PMID: 33212994). 33212994
KIT N655K Advanced Solid Tumor predicted - sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N655K demonstrated some sensitivity to Qinlock (ripretinib) treatment in culture, but were less sensitive than cells expressing KIT W557_K558del (PMID: 33212994). 33212994
KIT V654A Advanced Solid Tumor sensitive Axitinib Preclinical - Cell line xenograft Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT V654A in culture, and inhibited tumor growth in xenograft models (PMID: 31205508). 31205508
KIT V654A Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, cells expressing KIT V654A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 16751810). 16751810
KIT V654A Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT V654A in culture (PMID: 35194937). 35194937
KIT V654A Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, cells expressing KIT V654A demonstrated some sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT V654A Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V654A in culture (PMID: 31205508). 31205508
KIT V654A Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V654A in culture (PMID: 35194937). 35194937
KIT V654A gastrointestinal stromal tumor predicted - resistant Avapritinib Phase I Actionable In a Phase I trial, patients with gastrointestinal stromal tumors harboring either KIT V654A or KIT T670I demonstrated decreased overall response rate (0%, 0/25 vs. 26%, 22/84) and increased progressive disease rate (72% vs 23%) compared to those without either KIT mutation when treated with Ayvakit (avapritinib) (PMID: 31270078; NCT02508532). 31270078
KIT W557_K558del KIT V654A gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, three patients with gastrointestinal stromal tumors harboring KIT W557_K558del progressed following an initial response to Gleevec (imatinib), and were found to have acquired the secondary resistance mutation KIT V654A (PMID: 18294292). 18294292
KIT W557_K558del KIT V654A Advanced Solid Tumor no benefit Imatinib Preclinical - Cell line xenograft Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT V654A demonstrated no response to treatment with Gleevec (imatinib) in both culture and xenograft models (PMID: 25239608). 25239608
KIT W557_K558del KIT V654A Advanced Solid Tumor sensitive Ponatinib Preclinical - Cell line xenograft Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT V654A demonstrated sensitivity to treatment with Iclusig (ponatinib) in both culture and cell line xenograft models, resulting in reduced cell viability and decreased tumor volume (PMID: 25239608). 25239608
KIT W557_K558del KIT V654A Advanced Solid Tumor resistant Regorafenib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT V654A demonstrated resistance to treatment with Stivarga (regorafenib) in culture (PMID: 25239608). 25239608
KIT W557_K558del KIT V654A gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Pdx Actionable In a preclinical study, Sutent (sunitinib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_K558del and KIT V654A, which was established from a patient who did not respond to Gleevec (imatinib) treatment (PMID: 32350132). 32350132
KIT W557_K558del KIT V654A Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell line xenograft Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT V654A demonstrated sensitivity to treatment with Sutent (sunitinib) in both culture and cell line xenograft models, resulting in reduced cell viability, decreased tumor volume, and tumor regression (PMID: 25239608). 25239608
KIT W557_K558del KIT V654A gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Pdx Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and resulted in tumor regression in patient-derived xenograft models of Gleevec (imatinib)-resistant gastrointestinal stromal tumor harboring KIT W557_K558del and V654A (PMID: 29093181). 29093181
KIT W557_K558del KIT V654A Advanced Solid Tumor resistant Avapritinib Preclinical - Cell line xenograft Actionable In a preclinical study, Ayvakit (avapritinib) failed to inhibit cell growth or KIT signaling in culture and did not suppress tumor growth in cell line xenograft models of transformed cells expressing KIT W557_K558del and KIT V654A (PMID: 32350132). 32350132
KIT W557_K558del KIT V654A gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT W557_K558del progressed on second-line treatment with Qinlock (ripretinib) after 3 months and was found to have acquired KIT V654A in the metastatic lesion (PMID: 38408285). 38408285
KIT W557_K558del KIT V654A Advanced Solid Tumor resistant Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) failed to reduce cell viability and inhibit KIT signaling in transformed cells expressing KIT W557_K558del and KIT V654A in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT V654A gastrointestinal stromal tumor sensitive AZD3229 Preclinical - Pdx Actionable In a preclinical study, AZD3229 inhibited Kit signaling and tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_K558del and KIT V654A, which was established from a patient who did not respond to Gleevec (imatinib) treatment (PMID: 32350132). 32350132
KIT W557_K558del KIT V654A Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell line xenograft Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT V654A demonstrated sensitivity to treatment with AZD3229 in both culture and cell line xenograft models, resulting in reduced cell viability, decreased KIT signaling, and tumor regression (PMID: 32350132). 32350132
KIT V560_L576del KIT V654A gastrointestinal stromal tumor resistant Imatinib Preclinical - Pdx Actionable In a preclinical study, a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT V560_L576del and V654A with overexpression of GPR20 (IHC score 3+) demonstrated resistance to treatment with Gleevec (imatinib) (PMID: 33579785). 33579785
KIT V560_L576del KIT V654A gastrointestinal stromal tumor sensitive Regorafenib Preclinical - Pdx Actionable In a preclinical study, Stivarga (regorafenib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT V560_L576del and V654A with overexpression of GPR20 (IHC score 3+) (PMID: 33579785). 33579785
KIT V560_L576del KIT V654A gastrointestinal stromal tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, a patient derived GIST cell line co-harboring KIT V560_L576del and KIT V654A demonstrated sensitivity to treatment with Sutent (sunitinib) (PMID: 25239608). 25239608
KIT V560_L576del KIT V654A gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Pdx Actionable In a preclinical study, Sutent (sunitinib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT V560_L576del and V654A with overexpression of GPR20 (IHC score 3+) (PMID: 33579785). 33579785
KIT V560_L576del KIT V654A gastrointestinal stromal tumor sensitive Olverembatinib Preclinical - Cell line xenograft Actionable In a preclinical study, Olverembatinib (HQP1351) treatment inhibited Kit downstream signalling, resulted in cell cycle arrest and apoptosis in a Gleevec (imatinib)-resistant gastrointestinal stromal tumor (GIST) cell line harboring KIT V560_L576del and V654A in culture, and inhibited tumor growth in a cell line xenograft model (PMID: 31673329). 31673329
KIT exon11 KIT V654A gastrointestinal stromal tumor sensitive Copanlisib Preclinical - Cell culture Actionable In a preclinical study, Aliqopa (copanlisib) inhibited cell growth and PI3K signaling in a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT V654A in culture (PMID: 32371592). 32371592
KIT exon11 KIT V654A gastrointestinal stromal tumor sensitive Imatinib + MK2206 Preclinical - Cell culture Actionable In a preclinical study, the combination of Gleevec (imatinib) and MK2206 demonstrated synergy in inhibiting growth of a Gleevec (imatinib)-resistant gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion mutation and KIT V654A in culture (PMID: 27370604). 27370604
KIT exon11 KIT V654A gastrointestinal stromal tumor predicted - sensitive Copanlisib + Imatinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Aliqopa (copanlisib) and Gleevec (imatinib) demonstrated enhanced cell growth inhibition but did not result in increased apoptosis of gastrointestinal stromal tumor cells harboring a KIT exon 11 deletion and KIT V654A compared to either agent alone in culture (PMID: 32371592). 32371592
KIT V560D KIT V654A Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT V560D KIT V654A Advanced Solid Tumor sensitive Motesanib Diphosphate Preclinical - Cell culture Actionable In a preclinical study, Motesanib (AMG 706) inhibited KIT phosphorylation and growth of cells expressing a KIT V560D/V654A double mutation in culture (PMID: 20633291). 20633291
KIT V560D KIT V654A Advanced Solid Tumor resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated resistance to treatment with Stivarga (regorafenib) in culture (PMID: 32350132). 32350132
KIT V560D KIT V654A Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated sensitivity to Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D KIT V654A Advanced Solid Tumor decreased response Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT V560D and KIT V654A demonstrated a decreased response to treatment with Ayvakit (avapritinib) compared to cells expressing KIT V560D alone in culture (PMID: 31270078). 31270078
KIT V560D KIT V654A Advanced Solid Tumor resistant Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT V560D and KIT V654A were resistant to Flumatinib in culture (PMID: 24205792). 24205792
KIT V560D KIT V654A Advanced Solid Tumor decreased response Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated a decreased response to treatment with Qinlock (ripretinib) compared to cells expressing KIT V560D alone in culture (PMID: 32350132). 32350132
KIT V560D KIT V654A Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560del KIT V654A Advanced Solid Tumor sensitive Nilotinib Preclinical - Cell culture Actionable In a preclinical study, Tasigna (nilotinib) inhibited proliferation of transformed cells expressing a KIT V560del/V654A double mutation in culture (PMID: 17699867). 17699867
KIT K558_V560del KIT V654A gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT V654A was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring a primary KIT K558_V560del mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160). 18488160
KIT V560_Y578del KIT V654A gastrointestinal stromal tumor resistant Imatinib Preclinical - Cell line xenograft Actionable In a preclinical study, Gleevec (imatinib) failed to decrease cell viability and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT V654A in culture, and did suppress tumor growth in cell line xenograft models (PMID: 32350132). 32350132
KIT V560_Y578del KIT V654A gastrointestinal stromal tumor resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT V654A demonstrated resistance to Stivarga (regorafenib) in culture (PMID: 32350132). 32350132
KIT V560_Y578del KIT V654A gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Cell line xenograft Actionable In a preclinical study, Sutent (sunitinib) inhibited growth of a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT V654A in culture, and inhibited tumor growth in cell line xenograft models (PMID: 32350132). 32350132
KIT V560_Y578del KIT V654A gastrointestinal stromal tumor resistant Avapritinib Preclinical - Cell line xenograft Actionable In a preclinical study, Ayvakit (avapritinib) failed to decrease cell viability and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT V654A in culture, and did suppress tumor growth in cell line xenograft models (PMID: 32350132). 32350132
KIT V560_Y578del KIT V654A gastrointestinal stromal tumor predicted - resistant Ripretinib Preclinical - Cell line xenograft Actionable In a preclinical study, Qinlock (ripretinib) resulted in slight decreases in cell viability and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT V654A in culture, but failed to suppress tumor growth in cell line xenograft models (PMID: 32350132). 32350132
KIT V560_Y578del KIT V654A gastrointestinal stromal tumor sensitive AZD3229 Preclinical - Cell line xenograft Actionable In a preclinical study, AZD3229 suppressed Kit signaling and cell growth in culture, and inhibited tumor growth in a cell line xenograft model of gastrointestinal stromal tumor harboring KIT V560_Y578del and KIT V654A (PMID: 32350132). 32350132
KIT A502_Y503dup KIT V654A Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT V654A Advanced Solid Tumor resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated resistance to Stivarga (regorafenib) in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT V654A Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated sensitivity to Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT A502_Y503dup KIT V654A Advanced Solid Tumor resistant Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated resistance to Ayvakit (avapritinib) in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT V654A Advanced Solid Tumor decreased response Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated a decreased response to treatment with Qinlock (ripretinib) compared to cells expressing KIT A502_Y503dup alone in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT V654A Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT exon 11 del KIT V654A gastrointestinal stromal tumor decreased response Nintedanib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT V654A demonstrated reduced sensitivity to Ofev (nintedanib) compared to the parental cell line harboring a KIT exon 11 deletion in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT V654A in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A gastrointestinal stromal tumor resistant Ripretinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT V654A demonstrated resistance to Qinlock (ripretinib) in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A Advanced Solid Tumor predicted - sensitive THE-630 Preclinical - Cell culture Actionable In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT V654A in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). detail...
KIT exon 11 del KIT V654A gastrointestinal stromal tumor sensitive Ripretinib + Sunitinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Qinlock (ripretinib) and Sutent (sunitinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT V654A in culture (PMID: 38408285). 38408285
KIT exon 9 ins KIT V654A Advanced Solid Tumor predicted - sensitive THE-630 Preclinical - Cell culture Actionable In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 9 insertion and KIT V654A in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). detail...
KIT E554_K558del KIT V654A gastrointestinal stromal tumor predicted - resistant Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, KIT V654A was identified as a secondary resistance mutation in a patient with a gastrointestinal stromal tumor harboring a primary KIT E554_K558del mutation who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) treatment (PMID: 35041493; NCT01991379). 35041493
KIT Q556_V559delinsHT KIT V654A gastrointestinal stromal tumor predicted - resistant Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, KIT V654A was identified as a secondary resistance mutation in a patient with a gastrointestinal stromal tumor harboring a primary KIT Q556_V559delinsHT mutation who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) (PMID: 35041493; NCT01991379). 35041493
KIT Q556_I571del KIT V654A gastrointestinal stromal tumor predicted - resistant Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, KIT V654A was identified as a secondary mutation in a patient with a gastrointestinal stromal tumor harboring a primary KIT Q556_I571del mutation who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) (PMID: 35041493; NCT01991379). 35041493
KIT E554_Y570del KIT V654A gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT E554_Y570del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT V654A (PMID: 18294292). 18294292
KIT W557_E561del KIT V654A gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, two patients with gastrointestinal stromal tumors harboring KIT W557_E561del progressed following an initial response to Gleevec (imatinib), and were found to have acquired the secondary resistance mutation KIT V654A (PMID: 18294292). 18294292
KIT M552_D572del KIT V654A gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, two patients with gastrointestinal stromal tumors harboring KIT M552_D572del progressed following an initial response to Gleevec (imatinib), and were found to have acquired the secondary resistance mutation KIT V654A (PMID: 18294292). 18294292
KIT V559_T574del KIT V654A gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT V559_T574del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT V654A in one lesion (PMID: 18294292). 18294292
KIT Q556_W557del KIT V654A gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT Q556_W557del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT V654A (PMID: 18294292). 18294292
KIT exon 11 del KIT V654A KIT D820A gastrointestinal stromal tumor sensitive Crenolanib Preclinical - Cell culture Actionable In a preclinical study, Crenolanib (CP-868596) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT D820A and V654A in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A KIT D820A gastrointestinal stromal tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT D820A and V654A in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A KIT D820A gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT D820A and V654A in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A KIT D820A gastrointestinal stromal tumor resistant Ripretinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT V654A and D820A demonstrated resistance to Qinlock (ripretinib) in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT V654A KIT D820A gastrointestinal stromal tumor resistant Ripretinib + Sunitinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT V654A and D820A demonstrated resistance to the combination of Qinlock (ripretinib) and Sutent (sunitinib) in culture (PMID: 38408285). 38408285
KIT N560_Y574del KIT V654A gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT N560_Y574del and N822Y progressed on second-line treatment with Qinlock (ripretinib) after 1.5 months and was found to have lost KIT N822Y but acquired KIT V654A in the metastatic lesion (PMID: 38408285). 38408285
KIT M552_E554delinsK KIT V654A gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT M552_E554delinsK progressed on second-line treatment with Qinlock (ripretinib) after 2.5 months and was found to have acquired KIT V654A in the metastatic lesion (PMID: 38408285). 38408285
KIT W557_K558del KIT V654A KIT D820V gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT W557_K558del progressed on fourth-line treatment with Qinlock (ripretinib) after 3.0 months and was found to have acquired KIT V654A and D820V in the metastatic lesion (PMID: 38408285). 38408285
KIT Q556_K558delinsE KIT V654A KIT Y823H gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT Q556_K558delinsE and KIT V654A progressed on fourth-line treatment with Qinlock (ripretinib) after 8.5 months and was found to have acquired KIT Y823H in the metastatic lesion (PMID: 38408285). 38408285
KIT K550_V555del KIT V654A KIT C809G gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT K550_V555del progressed on sixth-line treatment with Qinlock (ripretinib) after 18 months and was found to have acquired KIT K550_V555del and V654A KIT C809G in one metastatic lesion and KIT V654A in a second metastatic lesion (PMID: 38408285). 38408285
KIT W557_K558del KIT V654A KIT I748D gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT W557_K558del and T670E progressed on fifth-line treatment with Qinlock (ripretinib) after 12 months and was found to have lost T670E but acquired KIT V654A and I748D in the metastatic lesion (PMID: 38408285). 38408285
KIT K642E gastrointestinal stromal tumor sensitive Axitinib Preclinical - Patient cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited phosphorylation of KIT and downstream signaling, reduced proliferation, and induced cell-cycle arrest in a cultured gastrointestinal stromal tumor (GIST) cell line harboring KIT K642E, and inhibited proliferation of primary GIST cells harboring KIT K642E in culture (PMID: 31205508). 31205508
KIT K642E vulvar melanoma predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in partial response in a patient with recurrent vulval melanoma harboring KIT K642E, with reduction of tumor mass by 35% at 12 weeks (PMID: 20372153). 20372153
KIT K642E melanoma predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including a melanoma patient harboring KIT K642E demonstrating a partial response and a progression free survival of 5.8 months and overall survival of 18.6 months (PMID: 28327988). 28327988
KIT K642E gastrointestinal stromal tumor sensitive Nintedanib Preclinical - Cell line xenograft Actionable In a preclinical study, Ofev (nintedanib) decreased Kit phosphorylation and downstream signaling, induced cell-cycle arrest and apoptosis, and inhibited proliferation of a gastrointestinal stromal tumor cell line and patient-derived cells harboring KIT K642E in culture, and suppressed tumor growth in cell line xenograft models (PMID: 35194937). 35194937
KIT K642E gastrointestinal stromal tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, a patient derived GIST cell line harboring KIT K642E demonstrated sensitivity to Iclusig (ponatinib) in culture (PMID: 25239608). 25239608
KIT K642E gastrointestinal stromal tumor sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Stivarga (regorafenib) inhibited proliferation of gastrointestinal stromal tumor cells harboring KIT K642E in culture (PMID: 21170960). 21170960
KIT K642E gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Patient cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of a gastrointestinal stromal tumor (GIST) cell line and primary GIST patient-derived cells harboring KIT K642E in culture (PMID: 31205508). 31205508
KIT K642E gastrointestinal stromal tumor sensitive Imatinib + Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) and Gleevec (imatinib) combination treatment demonstrated enhanced antiproliferative activity in gastrointestinal stromal tumor cells harboring KIT K642E in culture (PMID: 25673643). 25673643
KIT K642E gastrointestinal stromal tumor predicted - sensitive IDRX-42 Preclinical - Pdx Actionable In a preclinical study, IDRX-42 treatment inhibited mitosis and decreased tumor growth in a cell line xenograft model and a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT K642E (Cancer Res 2022;82(12_Suppl):Abstract nr 2666). detail...
KIT K642E KIT C809G KIT N822H gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, an acquired KIT C809G mutation was identified in a gastrointestinal stromal tumor (GIST) patient harboring KIT K642E and KIT N822H at the time of progression on Gleevec (imatinib) (PMID: 16954519). 16954519
KIT K642E KIT N822Y gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT N822Y progressed on sixth-line treatment with Qinlock (ripretinib) after 7.3 months and was found to have acquired KIT K642E in the metastatic lesion (PMID: 38408285). 38408285
KIT Y578C Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib mesylate) inhibited Kit phosphorylation efficiently in transformed human cells over expressing KIT Y578C in culture (PMID: 23567324). 23567324
KIT W557C KIT Y578C Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib mesylate) inhibited Kit phosphorylation efficiently in transformed human cells over expressing both KIT W557C and KIT Y578C in culture (PMID: 23567324). 23567324
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...
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...
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...
KIT act mut gastrointestinal stromal tumor sensitive Pexidartinib Preclinical - Cell line xenograft Actionable In a preclinical study, PLX3397 inhibited growth of gastrointestinal stromal tumor cell lines harboring KIT activating mutations in culture and in cell line xenograft models (PMID: 24583793). 24583793
KIT act mut melanoma predicted - sensitive Regorafenib Case Reports/Case Series Actionable In a clinical case study, Stivarga (regorafenib) treatment demonstrated safety and preliminary activity in patients with melanoma harboring activating mutations in KIT, resulting in an overall response rate of 100% (7/7, 1 complete and 6 partial responses), with median duration of response and median progression-free survival not reached and response ongoing in 4 patients at a median follow-up of 43 weeks (Ann Oncol (2024) 35 (suppl_2): S743-S744). detail...
KIT act mut gastrointestinal stromal tumor sensitive Cabozantinib Preclinical Actionable In a preclinical study, Cometriq (cabozantinib) decreased cell viability in imatinib-sensitive and resistant gastrointestinal stromal tumor (GIST) cell lines harboring KIT activating mutations in culture, and induced tumor regression in KIT-mutant GIST mouse models (PMID: 25836719). 25836719
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...
KIT act mut Advanced Solid Tumor sensitive PLX9486 Preclinical Actionable In a preclinical study, PLX9486 inhibited KIT mutations, including exon 17 mutations, and demonstrated in vivo and in vitro activity against tumors harboring KIT exon 17 mutations (Cancer Res February 1, 2016 76; IA32). 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...
KIT L576P Advanced Solid Tumor sensitive Axitinib Preclinical - Cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT L576P in culture (PMID: 31205508). 31205508
KIT L576P melanoma sensitive Dasatinib Case Reports/Case Series Actionable In a clinical study, two patients with melanoma harboring KIT L576P, one who had progressed on Gleevec (imatinib), demonstrated initial clinical benefit following treatment with Sprycel (dasatinib); however, one patient progressed after 3 months, and the other patient progressed after 4 months of treatment (PMID: 19671763). 19671763
KIT L576P melanoma sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, Sprycel (dasatinib) inhibited MNK pathway activation and proliferation of melanoma cell lines harboring KIT L576P in culture (PMID: 29035277). 29035277
KIT L576P melanoma unknown Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in initial tumor reduction, but was followed by disease progression at all tumor sites in a patient with metastasized labial melanoma harboring KIT L576P (PMID: 20372153). 20372153
KIT L576P Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited proliferation of transformed cells expressing KIT L576P in culture (PMID: 35194937). 35194937
KIT L576P melanoma predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including three melanoma patients harboring KIT L576P demonstrating a partial response (PMID: 28327988). 28327988
KIT L576P Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT L576P in culture (PMID: 35194937). 35194937
KIT L576P Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT L576P in culture (PMID: 35194937). 35194937
KIT L576P melanoma predicted - sensitive Ripretinib Case Reports/Case Series Actionable In a Phase I trial, Qinlock (ripretinib) treatment resulted in a partial response in 3 of 4 patients with metastatic melanoma harboring KIT L576P (PMID: 35753087; NCT02571036). 35753087
KIT L576P melanoma predicted - sensitive Bevacizumab + Sorafenib Case Reports/Case Series Actionable In a Phase I trial, a melanoma patient harboring KIT L576P demonstrated sensitivity to the combination treatment of Nexavar (sorafenib) and Avastin (bevacizumab), resulting in a partial response for 8 months (PMID: 25363205). 25363205
KIT L576P melanoma sensitive SEL201 Preclinical - Cell line xenograft Actionable In a preclinical study, SEL201 inhibited MNK pathway signaling and growth of melanoma cells harboring KIT L576P in culture, and suppressed tumor metastasis in xenograft models (PMID: 29035277). 29035277
KIT K509I systemic mastocytosis sensitive Dasatinib Preclinical - Patient cell culture Actionable In a preclinical study, Sprycel (dasatinib) treatment inhibited growth and induced apoptosis of primary bone marrow mononuclear cells derived from patients with aggressive systemic mastocytosis harboring KIT K509I in culture (PMID: 25139846). 25139846
KIT K509I systemic mastocytosis sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in symptom and enzymatic improvements in 2 patients with aggressive systemic mastocytosis harboring KIT K509I, with 1 patient achieving a major response/complete remission, and inhibited growth of primary bone marrow mononuclear cells derived from both patients in culture (PMID: 25139846). 25139846
KIT K509I mastocytosis sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in symptom improvements, liver size reduction, and decrease of enzymatic markers in a patient with familial mastocytosis harboring a germline KIT K509I mutation and inhibited growth of white blood cells derived from the patient in culture (PMID: 16183119). 16183119
KIT K509I gastrointestinal stromal tumor no benefit Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in stable disease at 9 months in a patient with advanced gastrointestinal stromal tumor harboring a germline KIT K509I mutation, which was later discontinued due to adverse effects and lack of response (PMID: 23610110). 23610110
KIT K509I systemic mastocytosis predicted - sensitive Midostaurin Preclinical - Patient cell culture Actionable In a preclinical study, Rydapt (midostaurin) treatment inhibited growth but did not induce apoptosis in primary bone marrow mononuclear cells derived from patients with aggressive systemic mastocytosis harboring KIT K509I in culture (PMID: 25139846). 25139846
KIT V560G mast cell neoplasm sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G mast cell neoplasm sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G Advanced Solid Tumor sensitive Nilotinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560G demonstrated inhibition of cell proliferation and tumor regression both in culture and in vivo when treated with Tasigna (nilotinib) (PMID: 20442311). 20442311
KIT V560G Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, cells expressing KIT V560G demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT V560G mast cell neoplasm sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Stivarga (regorafenib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G mast cell neoplasm sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G mast cell neoplasm sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G mast-cell leukemia sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of mast cell leukemia cells harboring KIT V560G in culture (PMID: 29093181). 29093181
KIT V560G mast cell neoplasm sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175). 31085175
KIT V560D Advanced Solid Tumor sensitive Dasatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560D were sensitive to Sprycel (dasatinib) in culture (PMID: 16397263). 16397263
KIT V560D Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to treatment with Gleevec (imatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT V560D Advanced Solid Tumor sensitive Motesanib Diphosphate Preclinical - Cell culture Actionable In a preclinical study, Motesanib (AMG 706) inhibited KIT phosphorylation and growth of cells expressing KIT V560D in culture (PMID: 20633291). 20633291
KIT V560D melanoma predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including a melanoma patient harboring KIT V560D demonstrating a partial response and progression free survival of 8.6 months and overall survival of 23.5 months (PMID: 28327988). 28327988
KIT V560D Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT V560D Advanced Solid Tumor sensitive Regorafenib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to treatment with Stivarga (regorafineb) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT V560D Advanced Solid Tumor sensitive Sorafenib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560D were sensitive to Nexavar (sorafenib) in culture (PMID: 22665524). 22665524
KIT V560D Advanced Solid Tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT V560D gastrointestinal stromal tumor predicted - sensitive Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment had manageable toxicity and resulted in a 95% pathological response and 6% RECIST response in a patient with gastrointestinal stromal tumor of the stomach harboring KIT V560D (PMID: 35041493; NCT01991379). 35041493
KIT V560D gastrointestinal stromal tumor predicted - sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D were sensitive to treatment with Ayvakit (avapritinib) in culture, demonstrating decreased cell growth (PMID: 31270078). 31270078
KIT V560D Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased cell viability in transformed cells expressing KIT V560D in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132). 32350132
KIT V560D Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D KIT D820A gastrointestinal stromal tumor resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT D820A was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring a primary KIT V560D mutation, who developed resistance to Gleevec (imatinib mesylate) (PMID: 16954519). 16954519
KIT V560D KIT D820A gastrointestinal stromal tumor resistant Imatinib Preclinical Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring KIT V560D and KIT D820A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 16954519). 16954519
KIT V560D KIT D820A Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT V560D KIT D820A Advanced Solid Tumor sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Stivarga (regorafenib) treatment resulted in decreased viability of transformed cells expressing KIT V560D and KIT D820A in culture, but was less effective compared to other treatments (PMID: 32350132). 32350132
KIT V560D KIT D820A gastrointestinal stromal tumor resistant Sunitinib Preclinical Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring KIT V560D and KIT D820A demonstrated resistance to Sutent (sunitinib) in culture (PMID: 18955458). 18955458
KIT V560D KIT D820A Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132). 32350132
KIT V560D KIT D820A gastrointestinal stromal tumor predicted - sensitive Imatinib + Infigratinib Preclinical - Cell line xenograft Actionable In a preclinical study, combination treatment with Gleevec (imatinib) and Truseltiq (infigratinib) treatment resulted in tumor shrinkage in a gastrointestinal stromal tumor cell line xenograft model harboring KIT V560D and KIT D820A (PMID: 35625872). 35625872
KIT V560D KIT D820A Advanced Solid Tumor decreased response Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated a decreased response to treatment with Ayvakit (avapritinib) compared to cells expressing KIT V560D alone in culture (PMID: 32350132). 32350132
KIT V560D KIT D820A Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D KIT D820A Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D KIT D579G KIT D816N melanoma predicted - sensitive Ripretinib Case Reports/Case Series Actionable In a Phase I trial, Qinlock (ripretinib) treatment resulted in a partial response in a patient with metastatic melanoma harboring KIT D579G, V560D, and D816N (PMID: 35753087; NCT02571036). 35753087
KIT D579del thymic carcinoma sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with thymic carcinoma harboring KIT D579del achieved disease stabilization following treatment with Gleevec (imatinib) (PMID: 24419427). 24419427
KIT P551_V555del gastrointestinal stromal tumor sensitive Sorafenib Preclinical - Pdx Actionable In a preclinical study, Nexavar (sorafenib) inhibited Erk signaling, induced apoptosis, resulted in tumor growth inhibition in patient derived xenograft models of gastrointestinal stromal tumor harboring KIT P551_V555del (PMID: 19139124). 19139124
KIT W557_K558del Advanced Solid Tumor sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, Sprycel (dasatinib) inhibited growth and induced apoptosis of transformed cells expressing KIT W557_K558del in culture (PMID: 17699867). 17699867
KIT W557_K558del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in 4 partial responses and 1 stable disease in 5 patients with gastrointestinal stromal tumors harboring KIT W557_K558del, with progression-free survival ranging from 12.2 to 36.5 months and overall survival ranging from 22.7 to 67.9 months (PMID: 18294292). 18294292
KIT W557_K558del Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to treatment with Gleevec (imatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT W557_K558del Advanced Solid Tumor sensitive Nilotinib Preclinical - Cell culture Actionable In a preclinical study, Tasigna (nilotinib) inhibited growth of transformed cells expressing KIT W557_K558del in culture (PMID: 17699867). 17699867
KIT W557_K558del gastrointestinal stromal tumor sensitive PD-0325901 Preclinical - Cell culture Actionable In a preclinical study, PD-0325901 treatment inhibited Erk phosphorylation and decreased expression of ETV1 and CXCR4 in gastrointestinal stromal tumor cells harboring KIT W557_K558del (PMID: 26936919). 26936919
KIT W557_K558del Advanced Solid Tumor sensitive Ponatinib Preclinical - Cell line xenograft Actionable In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to treatment with Iclusig (ponatinib) in both culture and cell line xenograft models, resulting in reduced cell viability and near complete tumor regression (PMID: 25239608). 25239608
KIT W557_K558del Advanced Solid Tumor sensitive Regorafenib Preclinical Actionable In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to treatment with Stivarga (regorafineb) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT W557_K558del Advanced Solid Tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT W557_K558del Advanced Solid Tumor sensitive Cabozantinib Preclinical - Cell culture Actionable In a preclinical study, Cometriq (Cabometyx, cabozantinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del in culture (PMID: 33212994). 33212994
KIT W557_K558del Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132). 32350132
KIT W557_K558del Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132). 32350132
KIT W557_K558del Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT W557_K558del KIT D816G Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816G were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D816G Advanced Solid Tumor resistant Ponatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816G were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D816G Advanced Solid Tumor resistant Regorafenib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816G were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D816G Advanced Solid Tumor resistant Sunitinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816G were resistant to Sutent (sunitinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820A Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820A were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820A Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D820A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT D820A Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820A were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820A Advanced Solid Tumor conflicting Regorafenib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820A were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820A Advanced Solid Tumor conflicting Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D820A were sensitive to treatment with Stivarga (regorafenib), demonstrating reduced cell viability in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT D820A Advanced Solid Tumor resistant Sunitinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820A were resistant to Sutent (sunitinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820A Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D820A demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132). 32350132
KIT W557_K558del KIT D820A Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del and KIT D820A in culture, but was less effective compared to other treatments (PMID: 32350132). 32350132
KIT W557_K558del KIT D820A Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D820A demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT W557_K558del KIT D820A Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D820A demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT W557_K558del KIT D820G Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820G Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820G Advanced Solid Tumor resistant Regorafenib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820G Advanced Solid Tumor resistant Sunitinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were resistant to Sutent (sunitinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D816E KIT D820V gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT D816E and D820V were identified as secondary mutations in a patient with gastrointestinal stromal tumor harboring KIT W557_K558del who developed resistance to Gleevec (imatinib) (PMID: 18294292). 18294292
KIT V559_V560del Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559_V560del were sensitive to Gleevec (imatinib), demonstrating decreased cell proliferation in culture (PMID: 24205792). 24205792
KIT V559_V560del Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559_V560del were sensitive to Sutent (sunitinib), demonstrating decreased cell proliferation in culture (PMID: 24205792). 24205792
KIT V559_V560del Advanced Solid Tumor sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559_V560del were sensitive to Flumatinib, demonstrating decreased cell proliferation in culture (PMID: 24205792). 24205792
KIT C443S mucosal melanoma sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with mucosal melanoma harboring KIT C443S demonstrated a substantial response to Gleevec (imatinib) in the first two weeks and then developed progression at 15 weeks (PMID: 25003536). 25003536
KIT F522C systemic mastocytosis sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in symptom and pathologic improvements in a patient with systemic mastocytosis harboring germline KIT F522C and inhibited growth of primary bone marrow cells derived from the patient in culture (PMID: 15070706). 15070706
KIT T632I melanoma predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in worsened condition and continued disease progression and metastasis in a patient with metastatic melanoma harboring KIT T632I (PMID: 31043947). 31043947
KIT D816E Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited proliferation of transformed cells expressing KIT D816E in culture (PMID: 35194937). 35194937
KIT D816E Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT D816E in culture (PMID: 35194937). 35194937
KIT D816E Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT D816E in culture (PMID: 35194937). 35194937
KIT V560_Y578del KIT D816E gastrointestinal stromal tumor decreased response Sunitinib Preclinical Actionable In a preclinical study, a patient derived GIST cell line co-harboring KIT V560_Y578del and KIT D816E demonstrated a decreased response to treatment with Sutent (sunitinib) (PMID: 25239608). 25239608
KIT Y570_L576del KIT D816E PTEN T321fs gastrointestinal stromal tumor resistant Imatinib Preclinical - Pdx Actionable In a preclinical study, Gleevec (imatinib mesylate) did not inhibit Kit, Erk, or Mtor signaling and resulted in minimal tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT D816E, KIT Y570_L576del, and PTEN T321fs, which was established from a patient who did not respond to Gleevec (imatinib mesylate), Sutent (sunitinib), and Nexavar (sorafenib) (PMID: 29100343). 29100343
KIT Y570_L576del KIT D816E PTEN T321fs gastrointestinal stromal tumor sensitive Regorafenib Preclinical - Pdx Actionable In a preclinical study, Stivarga (regorafenib) inhibited Kit, Erk, and Mtor signaling, resulted in tumor growth inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT D816E, KIT Y570_L576del, and PTEN T321fs, which was established from a patient who did not respond to Gleevec (imatinib mesylate), Sutent (sunitinib), and Nexavar (sorafenib) (PMID: 29100343). 29100343
KIT Y570_L576del KIT D816E PTEN T321fs gastrointestinal stromal tumor resistant Sunitinib Preclinical - Pdx Actionable In a preclinical study, Sutent (sunitinib) demonstrated limited inhibition of Kit, Erk, and Mtor signaling and resulted in minimal (22.9%) tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT D816E, KIT Y570_L576del, and PTEN T321fs, which was established from a patient who did not respond to Gleevec (imatinib mesylate), Sutent (sunitinib), and Nexavar (sorafenib) (PMID: 29100343). 29100343
KIT Y570_L576del KIT D816E PTEN T321fs gastrointestinal stromal tumor sensitive Imatinib + LY294002 Preclinical - Pdx Actionable In a preclinical study, Gleevec (imatinib mesylate) in combination with LY294002 resulted in enhanced tumor growth inhibition compared to monotherapy in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT D816E, KIT Y570_L576del, and PTEN T321fs, which was established from a patient who did not respond to Gleevec (imatinib mesylate), Sutent (sunitinib), and Nexavar (sorafenib) (PMID: 29100343). 29100343
KIT exon 11 del KIT D816E gastrointestinal stromal tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT D816E in culture (PMID: 31085175). 31085175
KIT exon 11 del KIT D816E gastrointestinal stromal tumor sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT D816E in culture (PMID: 31085175). 31085175
KIT exon 11 del KIT D816E gastrointestinal stromal tumor sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Stivarga (regorafenib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT D816E in culture (PMID: 31085175). 31085175
KIT exon 11 del KIT D816E gastrointestinal stromal tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT D816E demonstrated resistance to Sutent (sunitinib) in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT D816E gastrointestinal stromal tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT D816E demonstrated reduced response to growth inhibition by Sutent (sunitinib) compared to cells harboring KIT exon 11 deletion alone in culture (PMID: 31085175). 31085175
KIT exon 11 del KIT D816E gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT D816E in culture (PMID: 31085175). 31085175
KIT exon 11 del KIT D816E gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT D816E in culture (PMID: 31085175). 31085175
KIT exon 11 del KIT D816E gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT D816E in culture (PMID: 38408285). 38408285
ROS1 fusion KIT D816G lung non-small cell carcinoma predicted - resistant Crizotinib Case Reports/Case Series Actionable In a clinical study, a non-small cell lung carcinoma patient harboring a ROS1 fusion developed resistance to treatment with Xalkori (crizotinib) and was subsequently found to have acquired KIT D816G (PMID: 29636358). 29636358
KIT exon 11 del KIT D816G Advanced Solid Tumor predicted - sensitive THE-630 Preclinical - Cell culture Actionable In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT D816G in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). detail...
KIT exon 9 ins KIT D816G Advanced Solid Tumor predicted - sensitive THE-630 Preclinical - Cell culture Actionable In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 9 insertion and KIT D816G in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). detail...
KIT D820G Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT D820G in culture (PMID: 35194937). 35194937
KIT W557Lfs*5 KIT P577del KIT D820G gastrointestinal stromal tumor predicted - sensitive Dovitinib Preclinical - Pdx Actionable In preclinical study, Dovitinib (TKI258) treatment stabilized tumor volume in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT P577del, KIT W557Lfs*5, and KIT D820G (PMID: 35625872). 35625872
KIT W557Lfs*5 KIT P577del KIT D820G gastrointestinal stromal tumor resistant Imatinib Preclinical - Pdx Actionable In a preclinical study, a gastrointestinal stromal tumor patient-derived xenograft (PDX) model harboring KIT P577del, KIT W557Lfs*5, and KIT D820G demonstrated resistance to treatment with Gleevec (imatinib) (PMID: 27777285). 27777285
KIT W557Lfs*5 KIT P577del KIT D820G gastrointestinal stromal tumor sensitive Cabozantinib Preclinical - Pdx Actionable In a preclinical study, Cometriq (Cabometyx, cabozantinib) slowed tumor growth and decreased mitotic activity in a gastrointestinal stromal tumor patient-derived xenograft (PDX) model harboring KIT P577del, KIT W557Lfs*5, and KIT D820G (PMID: 27777285). 27777285
KIT W557Lfs*5 KIT P577del KIT D820G gastrointestinal stromal tumor sensitive PLX9486 Preclinical - Pdx Actionable In a preclinical study, PLX9486 treatment decreased Mapk phosphorylation and Kit downstream signaling, inhibited proliferation, and reduced tumor growth in a Gleevec (imatinib)-resistant patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT P577del, W557Lfs*5, and D820G (PMID: 30523507). 30523507
KIT W557Lfs*5 KIT P577del KIT D820G gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Pdx Actionable In a preclinical study, a patient derived xenograft (PDX) model with a gastrointestinal stromal tumor harboring KIT W557Lfs*5, KIT P577del, and KIT D820G was sensitive to treatment with Ayvakit (avapritinib), demonstrating a stabilized tumor volume at a dose of 10mg/kg and 27% tumor regression at a dose of 30mg/kg, a histologic response, and apoptotic activity (PMID: 30274985). 30274985
KIT W557Lfs*5 KIT P577del KIT D820G gastrointestinal stromal tumor predicted - sensitive IDRX-42 Preclinical - Pdx Actionable In a preclinical study, IDRX-42 treatment inhibited mitosis and decreased tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT P577del, W557Lfs*5, and D820G (Cancer Res 2022;82(12_Suppl):Abstract nr 2666). detail...
KIT exon 11 del KIT D820G Advanced Solid Tumor predicted - sensitive THE-630 Preclinical - Cell culture Actionable In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT D820G in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). detail...
KIT W557_E561del gastrointestinal stromal tumor sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to partial responses in two patients with gastrointestinal stromal tumors harboring KIT W557_E561del, with a progression-free survival (PFS) of 10.7 mo and overall survival (OS) of 14.9 mo in one patient, and a PFS of 32.2 mo and OS of 34.4 mo in the second patient (PMID: 18294292). 18294292
KIT W557_E561del gastrointestinal stromal tumor sensitive Imatinib Preclinical - Pdx Actionable In a preclinical study, Gleevec (imatinib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_E561del with overexpression of GPR20 (IHC score 3+) (PMID: 33579785). 33579785
KIT W557_E561del gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Pdx Actionable In a preclinical study, Sutent (sunitinib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_E561del with overexpression of GPR20 (IHC score 3+) (PMID: 33579785). 33579785
KIT W557_E561del KIT N822D gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT W557_E561del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT N822D (PMID: 18294292). 18294292
KIT D820V gastrointestinal stromal tumor predicted - sensitive Avapritinib Case Reports/Case Series Actionable In a Phase I trial, Ayvakit (avapritinib) treatment resulted in tumor reduction lasting through 15 cycles of treatment in a patient with gastrointestinal stromal tumor harboring KIT D820V, whose disease had progressed on previous Gleevec (imatinib), Sutent (sunitinib), and Stivarga (regorafenib) treatment (PMID: 29093181; NCT02508532). 29093181
KIT E554_K558del gastrointestinal stromal tumor predicted - sensitive Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment had manageable toxicity and resulted in a 99% pathological response and 29% RECIST response in a patient with a rectal gastrointestinal stromal tumor harboring KIT E554_K558del (PMID: 35041493; NCT01991379). 35041493
KIT Y553N thymic carcinoma sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with metastatic thymic carcinoma harboring KIT Y553N demonstrated improved clinical performance and reduction in metastatic lesions following treatment with Gleevec (imatinib) (PMID: 21969494). 21969494
KIT K558_V559del gastrointestinal stromal tumor predicted - sensitive Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment resulted in a 70% pathological response and 46% RECIST response in a patient with a rectal gastrointestinal stromal tumor harboring KIT K558_V559del (PMID: 35041493; NCT01991379). 35041493
KIT W557C KIT K558_V560del gastrointestinal stromal tumor predicted - sensitive Ponatinib Case Reports/Case Series Actionable In a clinical study, a GIST patient harboring KIT K558_V560del and KIT W557C, resistant to Gleevec (imatinib), Sutent (sunitinib), and Stivarga (regorafenib), demonstrated sensitivity when treated with Iclusig (ponatinib), which resulted in a radiologic response and stabilization for six months (PMID: 25239608). 25239608
KIT Q556_K558del gastric adenocarcinoma predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in a partial response with tumor shrinkage lasting at least 1 year in a patient with metastatic gastric adenocarcinoma harboring KIT Q556_K558del (PMID: 39298692). 39298692
KIT E562_L576del KIT N822Y gastrointestinal stromal tumor predicted - resistant Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, KIT N822Y was identified as a secondary mutation in a patient with a gastrointestinal stromal tumor harboring a primary KIT E562_L576del mutation who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) (PMID: 35041493; NCT01991379). 35041493
KIT V555_D572del KIT N822Y gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT V555_D572del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT N822Y (PMID: 18294292). 18294292
KIT T670E Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T670E demonstrated resistance to Gleevec (imatinib) in culture (PMID: 35194937). 35194937
KIT T670E Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT T670E in culture (PMID: 35194937). 35194937
KIT T670E Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT T670E in culture (PMID: 35194937). 35194937
KIT T670E Advanced Solid Tumor resistant Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T670E demonstrated resistance to Ayvakit (avapritinib) in culture (PMID: 35194937). 35194937
KIT T670E Advanced Solid Tumor resistant Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T670E demonstrated resistance to Qinlock (ripretinib) in culture (PMID: 35194937). 35194937
KIT K558_V559delinsN KIT T670E gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, KIT K558_V559delinsN and T670E were identified in a post-progression biopsy of a patient with a gastrointestinal stromal tumor who had been on third-line treatment with Qinlock (ripretinib) for 5.1 months (PMID: 38408285). 38408285
KIT V559G Advanced Solid Tumor sensitive Axitinib Preclinical - Cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT V559G in culture (PMID: 31205508). 31205508
KIT V559G Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited proliferation of transformed cells expressing KIT V559G in culture (PMID: 35194937). 35194937
KIT V559G Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT V559G in culture (PMID: 35194937). 35194937
KIT V559G Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V559G in culture (PMID: 35194937). 35194937
KIT V560E gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, neoadjuvant Gleevec (imatinib) treatment resulted in decreased tumor size with a maximal response at 12 months in a patient with gastrointestinal stromal tumor (GIST) harboring KIT V560E, allowing for surgical resection (PMID: 34250403). 34250403
KIT V560del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to a complete response in a patient with gastrointestinal stromal tumor harboring KIT V560del, with a progression-free survival of 33.4 months and an overall survival of 46.8 months (PMID: 18294292). 18294292
KIT V560del gastrointestinal stromal tumor predicted - sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) treatment resulted in inhibition of tumor proliferation in a mouse model of gastrointestinal stromal tumor harboring KIT V558del (corresponding to V560del in human) (PMID: 25572173). 25572173
KIT V560del Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) inhibited growth of transformed cell lines over expressing KIT V560del in culture (PMID: 19861435). 19861435
KIT V560del Advanced Solid Tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, Sutent (sunitinib) inhibited growth of transformed cell lines over expressing KIT V560del in culture (PMID: 19861435). 19861435
KIT V560del gastrointestinal stromal tumor predicted - sensitive Binimetinib + Imatinib Preclinical Actionable In a preclinical study, combination treatment with Gleevec (imatinib) and Mektovi (binimetinib) resulted in greater inhibition of tumor growth than either agent alone in a mouse model of gastrointestinal stromal tumor harboring KIT V558del (corresponding to V560del in human) (PMID: 25572173). 25572173
KIT V560del gastrointestinal stromal tumor sensitive G007-LK + Imatinib Preclinical Actionable In a preclinical study, the combination of G007-LK and Gleevec (imatinib) demonstrated increased anti-tumor activity compared to either agent alone in a mouse model of gastrointestinal stromal tumor expressing Kit V558del (corresponding to human V560del) (PMID: 28611108). 28611108
KIT K558N KIT V560del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumors harboring KIT K558N and KIT V560del (reported as KIT V559del), with a progression-free survival of 23.4 months and an overall survival of 54.7 months (PMID: 18294292). 18294292
KIT V560_L576del gastrointestinal stromal tumor sensitive Imatinib Preclinical - Pdx & cell culture Actionable In a preclinical study, a patient derived GIST cell line harboring KIT V560_L576del demonstrated sensitivity to Gleevec (imatinib) in both culture and PDX models, resulting in phosphorylation inhibition of Akt, Kit, and Erk (PMID: 25239608). 25239608
KIT V560_L576del gastrointestinal stromal tumor sensitive Ponatinib Preclinical - Pdx & cell culture Actionable In a preclinical study, a patient derived GIST cell line harboring KIT V560_L576del demonstrated sensitivity to Iclusig (ponatinib) in both culture and PDX models, resulting in phosphorylation inhibition of Akt, Kit, and Erk (PMID: 25239608). 25239608
KIT exon 11 del KIT D820A gastrointestinal stromal tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT D820A in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT D820A gastrointestinal stromal tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT D820A demonstrated resistance to Sutent (sunitinib) in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT D820A gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT D820A in culture (PMID: 38408285). 38408285
KIT exon 11 del KIT D820A Advanced Solid Tumor predicted - sensitive THE-630 Preclinical - Cell culture Actionable In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT D820A in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). detail...
KIT exon 11 del KIT D820A gastrointestinal stromal tumor sensitive Ripretinib + Sunitinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Qinlock (ripretinib) and Sutent (sunitinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT D820A in culture (PMID: 38408285). 38408285
KIT D820E Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT D820E in culture (PMID: 35194937). 35194937
KIT D820E Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, cells expressing KIT D820E demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT D820E thymic carcinoma predicted - sensitive Sorafenib Case Reports/Case Series Actionable In a clinical case study, a patient with metastatic thymic carcinoma harboring KIT D820E demonstrated a partial response to treatment with Nexavar (sorafenib) (PMID: 19461405). 19461405
KIT A502_Y503dup KIT D820E gastrointestinal stromal tumor resistant Imatinib Preclinical - Pdx Actionable In a preclinical study, Gleevec (imatinib mesylate) did not inhibit Kit, Erk, or Mtor signaling and resulted in minimal (7.4%) tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup and KIT D820E, which was established from a patient who did not respond to Gleevec (imatinib mesylate) and Sutent (sunitinib) (PMID: 29100343). 29100343
KIT A502_Y503dup KIT D820E gastrointestinal stromal tumor predicted - resistant Sunitinib Preclinical - Pdx Actionable In a preclinical study, Sutent (sunitinib) did not inhibit Kit, Erk, or Mtor signaling and resulted in minimal (26.2%) tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup and KIT D820E, which was established from a patient who did not respond to Gleevec (imatinib mesylate) and Sutent (sunitinib) (PMID: 29100343). 29100343
KIT D820N gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT D820N was identified as a secondary mutation in the metastatic lesions from a gastrointestinal stromal tumor patient whose disease progressed on Gleevec (imatinib) (PMID: 18628470). 18628470
KIT A502_Y503dup gastrointestinal stromal tumor predicted - sensitive Dovitinib Preclinical - Pdx Actionable In preclinical study, Dovitinib (TKI258) treatment resulted in tumor shrinkage in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup (PMID: 35625872). 35625872
KIT A502_Y503dup gastrointestinal stromal tumor conflicting Imatinib Preclinical - Pdx Actionable In a preclinical study, a gastrointestinal stromal tumor patient-derived xenograft (PDX) model harboring KIT A502_Y503dup demonstrated resistance to treatment with Gleevec (imatinib), resulting in increased tumor volume (PMID: 27777285). 27777285
KIT A502_Y503dup gastrointestinal stromal tumor conflicting Imatinib Preclinical - Pdx Actionable In a preclinical study, Gleevec (imatinib) treatment stabilized tumor growth in a gastrointestinal stromal tumor patient-derived xenograft (PDX) model harboring KIT A502_Y503dup (PMID: 35625872). 35625872
KIT A502_Y503dup Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup (Y503_F504insAY) were sensitive to Gleevec (imatinib) in culture, demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT A502_Y503dup gastrointestinal stromal tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited viability of a gastrointestinal stromal tumor cell line harboring KIT A502_Y503dup in culture (PMID: 38408285). 38408285
KIT A502_Y503dup gastrointestinal stromal tumor predicted - sensitive Regorafenib Preclinical - Pdx Actionable In a preclinical study, Stivarga (regorafenib) did not significantly inhibit Kit, Erk, or Mtor signaling, but resulted in tumor growth inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup and KIT D820E, which was established from a patient who did not respond to Gleevec (imatinib mesylate) and Sutent (sunitinib) (PMID: 29100343). 29100343
KIT A502_Y503dup Advanced Solid Tumor sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Stivarga (regorafenib) treatment resulted in decreased viability of transformed cells expressing KIT A502_Y503dup in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132). 32350132
KIT A502_Y503dup gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring KIT A502_Y503dup in culture (PMID: 38408285). 38408285
KIT A502_Y503dup Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup (Y503_F504insAY) were sensitive to Sutent (sunitinib) in culture, demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT A502_Y503dup gastrointestinal stromal tumor sensitive Cabozantinib Preclinical - Pdx Actionable In a preclinical study, Cometriq (Cabometyx, cabozantinib) resulted in decreased tumor volume and reduced mitotic activity in a gastrointestinal stromal tumor patient derived xenograft (PDX) model harboring KIT A502_Y503dup (PMID: 27777285). 27777285
KIT A502_Y503dup gastrointestinal stromal tumor predicted - sensitive Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment resulted in a 90% pathological response and 27% RECIST response in the primary tumor and 100% pathological response in metastatic lesions of a patient with an esophageal gastrointestinal stromal tumor harboring KIT A502_Y503dup (PMID: 35041493; NCT01991379). 35041493
KIT A502_Y503dup gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Pdx Actionable In a preclinical study, a patient derived xenograft (PDX) model with a gastrointestinal stromal tumor harboring KIT A502_Y503dup was sensitive to treatment with Ayvakit (avapritinib), demonstrating a 90% stabilized tumor volume at a dose of 30mg/kg and tumor regression at a dose of 60mg/kg, and inhibition of cell proliferation (PMID: 30274985). 30274985
KIT A502_Y503dup Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased cell viability and reduced KIT signaling in transformed cells expressing KIT A502_Y503dup in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132). 32350132
KIT A502_Y503dup Advanced Solid Tumor sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup (Y503_F504insAY) were sensitive to Flumatinib in culture, demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT A502_Y503dup gastrointestinal stromal tumor resistant Ripretinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line expressing KIT A502_Y503dup demonstrated resistance to Qinlock (ripretinib) in culture (PMID: 38408285). 38408285
KIT A502_Y503dup Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) treatment resulted in decreased cell viability and reduced KIT signaling in transformed cells expressing KIT A502_Y503dup in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132). 32350132
KIT A502_Y503dup Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability and inhibition of KIT signaling (PMID: 32350132). 32350132
KIT A502_Y503dup gastrointestinal stromal tumor predicted - sensitive IDRX-42 Preclinical - Pdx Actionable In a preclinical study, IDRX-42 treatment inhibited mitosis and decreased tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup (Cancer Res 2022;82(12_Suppl):Abstract nr 2666). detail...
KIT A502_Y503dup gastrointestinal stromal tumor predicted - sensitive Binimetinib + Dovitinib Preclinical - Pdx Actionable In preclinical study, combination treatment with Mektovi (binimetinib) and Dovitinib (TKI258) resulted in tumor shrinkage in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup (PMID: 35625872). 35625872
KIT exon11 gastrointestinal stromal tumor predicted - sensitive Dasatinib Phase II Actionable In a Phase II clinical trial, Sprycel (dasatinib) demonstrated preliminary activity in patients with Gleevec (imatinib)-resistant gastrointestinal stromal tumor (GIST), including patients harboring KIT exon 11 mutations, with a partial response rate of 32% (15/47), median progression-free survival of 2.0 months, and overall survival of 19 months (J Clin Oncol 29: 2011 (suppl; abstr 10006)). detail...
KIT exon11 melanoma predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in a partial response in a patient with metastastic anal melanoma harboring a 21 base-pair duplication in KIT exon 11, and reduced pulmonary metastasis by 60% (PMID: 20372153). 20372153
KIT exon11 gastrointestinal stromal tumor sensitive Imatinib Guideline Actionable Gleevec (imatinib) is included in guidelines for gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 11 mutations, as adjuvant therapy for patients with localized disease and as first-line therapy for patients with locally advanced, unresectable, or metastatic disease (PMID: 34560242; ESMO.org). 34560242 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...
KIT exon11 gastrointestinal stromal tumor sensitive Imatinib Phase III Actionable In a Phase III trial, a long-term analysis of gastrointestinal stromal tumor (GIST) patients treated with Gleevec (imatinib) demonstrated patients harboring KIT exon 11 mutations had a median progression-free survival of 39.4 months, and median overall survival was not reached, with 69.1% of patients with KIT exon 11 mutations alive at 5 years (PMID: 26687836; NCT00367861). 26687836
KIT exon11 gastrointestinal stromal tumor sensitive Imatinib Phase III Actionable In a Phase III trial, Gleevec (imatinib) treatment resulted in longer overall survival (OS) (66 vs 40 months) in gastrointestinal stromal tumor (GIST) patients harboring KIT exon 11 mutations compared to KIT and PDGFRA wild-type patients, while subtypes of KIT exon 11 mutations (deletion, insertation/duplication, point mutation) did not affect OS outcome (PMID: 28196207; NCT00009906). 28196207
KIT exon11 melanoma sensitive Nilotinib Phase II Actionable In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41), which included a partial response of 38.5% (10/26) and a progression free survival of 5.4 months in melanoma patients harboring KIT exon 11 mutations (PMID: 28327988). 28327988
KIT exon11 melanoma sensitive Nilotinib Phase II Actionable In a Phase II trial, Tasigna (nilotinib) treatment resulted in complete response in 5% (1/19) and partial response in 21% (4/19) of melanoma patients harboring KIT exon 11 or exon 13 mutations (PMID: 28843487; NCT01168050). 28843487
KIT exon11 gastrointestinal stromal tumor sensitive Nilotinib Phase III Actionable In a Phase III trial, a 24 month progression free survival was observed in 69.6% of advanced GIST patients harboring KIT exon 11 mutations when treated with Tasigna (nilotinib) (J Clin Oncol May 2013 vol. 31 no. 15_suppl 10501). detail...
KIT exon11 gastrointestinal stromal tumor predicted - sensitive Ponatinib Phase II Actionable In a Phase II trial, Iclusig (ponatinib) treatment in gastrointestinal stromal tumor patients with KIT exon 11 mutations who failed prior therapy versus those without KIT exon 11 mutations led to a 16-week clinical benefit rate of 36% (10/28; 1 partial response (PR), 9 stable disease (SD)) vs 20% (3/15; 3 SD), an objective response rate of 7% (2/28; 2 PR) vs 0% (0/15), and median progression-free survival of 4.0 vs 2.0 mo and overall survival of 14.7 vs 14.3 mo, respectively (PMID: 35091442; NCT01874665). 35091442
KIT exon11 melanoma sensitive Regorafenib Phase II Actionable In a Phase II trial, second or later-line Stivarga (regorafenib) treatment resulted in a disease control rate of 73.9% (17/23, 2 complete responses, 5 partial responses), an objective response rate of 30.4% (7/23), and median overall survival (mOS) of 21.5 months in patients with melanoma harboring KIT exon 9, 11, 13, or 17 mutations, and improved mOS in patients with non-exon 11 mutations compared to patients with exon 11 mutations (24.9 mo vs 18.3 mo, P=0.042) (PMID: 37741071; NCT02501551). 37741071
KIT exon11 gastrointestinal stromal tumor sensitive Regorafenib Phase II Actionable In a Phase II clinical trial, treatment with Stivarga (regorafenib) resulted in a clinical benefit rate of 76% (25/33), a median progression-free survival (PFS) of 13.2 months, and a median overall survival of 25 months in patients with gastrointestinal stromal tumors, with patients with KIT exon 11 mutations demonstrating the longest PFS of 13.4 months (PMID: 27371698). 27371698
KIT exon11 gastrointestinal stromal tumor sensitive Regorafenib Guideline Actionable Stivarga (regorafenib) is included in guidelines as third-line or subsequent therapy for locally advanced, unresectable, or metastatic gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 11 mutations (PMID: 34560242; ESMO.org). 34560242 detail...
KIT exon11 gastrointestinal stromal tumor sensitive Sunitinib Clinical Study - Cohort Actionable In a retrospective analysis, Sutent (sunitinib) treatment demonstrated efficacy in gastrointestinal stromal tumor (GIST) patients harboring KIT mutations previously treated with Gleevec (imatinib), and resulted in an objective response rate (ORR) of 6% (9/143) and median progression-free survival (mPFS) of 7.0 months in patients with KIT exon 11 mutations, and ORR of 19% (8/42) and mPFS of 12.3 months in patients with KIT exon 9 mutations (PMID: 26772734; NCT01459757). 26772734
KIT exon11 gastrointestinal stromal tumor sensitive Sunitinib Guideline Actionable Sutent (sunitinib) is included in guidelines as second-line or subsequent therapy for locally advanced, unresectable, or metastatic gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 11 mutations (PMID: 34560242; ESMO.org). 34560242 detail...
KIT exon11 melanoma not predictive Pembrolizumab Clinical Study Actionable In a retrospective analysis, real-world treatment with either Keytruda (pembrolizumab) or Toripalimab (JS001) resulted in a median disease-free survival of 33 months in melanoma patients harboring KIT mutations in either exon 11 (64.8%), exon 13 (17.6%), or exon 17 (17.6%) compared to 32 months in patients with wild-type BRAF, NRAS, and KIT (p=0.200) (PMID: 37403699). 37403699
KIT exon11 gastrointestinal stromal tumor no benefit Imatinib + Infigratinib Phase I Actionable In a Phase I trial, Truseltiq (infigratinib) and Gleevec (imatinib) combination therapy resulted in stable disease as best response in 58% (7/12) of patients with advanced gastrointestinal stromal tumor harboring KIT mutations in exon 11 (n=10), exon 9 (n=3), or other (n=3), however, the trial was discontinued due to toxicity concerns (PMID: 30101387). 30101387
KIT exon11 gastrointestinal stromal tumor predicted - sensitive PLX9486 Phase I Actionable In a Phase I trial, PLX9486 demonstrated safety and preliminary efficacy, resulted in a progression-free survival of more than 24 weeks and partial response in 8.3% (2/24) of patients with advanced solid tumors, 20 of these patients had gastrointestinal stromal tumor that progressed on Gleevec (imatinib mesylate), and most harbored KIT exon 11 and exon 17 mutations (Journal of Clinical Oncology 36, no. 15_suppl (May 20 2018) 11509-11509; NCT02401815). detail...
KIT exon11 gastrointestinal stromal tumor sensitive Ripretinib Phase I Actionable In a Phase I trial, Qinlock (ripretinib) was well tolerated, resulted in an objective response in 11.3% (16/142, 16 partial responses) and stable disease in 61.3% (87/142) of patients with advanced gastrointestinal stromal tumor harboring KIT (n=135) or PDGFRA mutations (n=7), with a median progression-free survival of 5.6 months, 72.5% (103/142) of the patients harbored KIT exon 11 mutations (PMID: 32804590; NCT02571036). 32804590
KIT exon11 gastrointestinal stromal tumor sensitive Ripretinib Phase II Actionable In a Phase II trial, second-line Qinlock (ripretinib) treatment demonstrated a favorable safety profile and resulted in similar median progression-free survival (mPFS) compared to Sutent (sunitinib) (10.3 vs 8.3 mo, HR=0.99, p=0.92) in patients with gastrointestinal stromal tumors previously treated with Gleevec (imatinib), longer mPFS (not reached vs 4.9 months, HR=0.46, p=0.03) was observed in patients harboring KIT exon 11 mutations (PMID: 37980854). 37980854
KIT exon11 gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Cell line xenograft Actionable In a preclinical study, Qinlock (ripretinib) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring a KIT exon 11 deletion mutation in culture, and resulted in tumor regression in cell line xenograft models (PMID: 31085175). 31085175
KIT exon11 gastrointestinal stromal tumor sensitive Ripretinib Guideline Actionable Qinlock (ripretinib) is included in guidelines as fourth-line or subsequent therapy for locally advanced, unresectable, or metastatic gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 11 mutations (PMID: 34560242; ESMO.org). 34560242 detail...
KIT exon11 gastrointestinal stromal tumor sensitive Imatinib + MK2206 Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of Gleevec (imatinib) and MK2206 increased growth inhibition and decreased viability of gastrointestinal stromal tumor (GIST) cell lines harboring KIT exon 11 mutations in culture, and improved survival and inhibited tumor growth in a KIT exon 11-mutant GIST cell line xenograft model, with increased efficacy compared to either agent alone (PMID: 27370604). 27370604
KIT exon11 melanoma not predictive Toripalimab-tpzi Clinical Study Actionable In a retrospective analysis, real-world treatment with either Keytruda (pembrolizumab) or Loqtorz (toripalimab-tpzi) resulted in a median disease-free survival of 33 months in melanoma patients harboring KIT mutations in either exon 11 (64.8%), exon 13 (17.6%), or exon 17 (17.6%) compared to 32 months in patients with wild-type BRAF, NRAS, and KIT (p=0.200) (PMID: 37403699). 37403699
KIT exon11 gastrointestinal stromal tumor sensitive Imatinib + XAV939 Preclinical - Cell culture Actionable In a preclinical study, treatment with the combination of XAV939 and Gleevec (imatinib) resulted in decreased viability of gastrointestinal stromal tumor (GIST) cell lines harboring KIT exon 11 mutations compared to Gleevec (imatinib) alone, in culture (PMID: 28611108). 28611108
KIT exon11 gastrointestinal stromal tumor sensitive Imatinib + PKF118-310 Preclinical - Cell culture Actionable In a preclinical study, treatment with the combination of PKF118-310 and Gleevec (imatinib) resulted in decreased viability of gastrointestinal stromal tumor (GIST) cell lines harboring KIT exon 11 mutations compared to Gleevec (imatinib) alone, in culture (PMID: 28611108). 28611108
KIT exon11 gastrointestinal stromal tumor predicted - sensitive Pexidartinib + PLX9486 Phase I Actionable In a Phase I trial, PLX9486 and Pexidartinib (PLX3397) combination therapy demonstrated safety and preliminary efficacy, resulted in a partial response rate of 8.3% (1/12) and progression-free survival not yet reached in patients with advanced solid tumors, 11 of these patients had gastrointestinal stromal tumor that progressed on Gleevec (imatinib mesylate), and most harbored KIT exon 11 and exon 17 mutations (Journal of Clinical Oncology 36, no. 15_suppl (May 20 2018) 11509-11509; NCT02401815). detail...
KIT exon11 gastrointestinal stromal tumor predicted - sensitive IDRX-42 Phase I Actionable In a Phase I trial, IDRX-42 treatment demonstrated safety and resulted in 9 partial responses among 39 evaluable patients with gastrointestinal stromal tumor harboring a KIT exon 11 (n=27), exon 9 (n=13), or exon 8 (n=2) mutation with a clinical benefit rate of 71% overall and 100% as second-line treatment (J Clin Oncol 42, 2024 (suppl 16; abstr 11501); NCT05489237). detail...
KIT exon11 gastrointestinal stromal tumor no benefit Imatinib + Spartalizumab Phase Ib/II Actionable In a Phase Ib/II trial, the combination of Spartalizumab (PDR001) and Gleevec (imatinib) was tolerable but demonstrated limited efficacy in Phase II, with an objective response rate of 0% (0/29), a disease control rate of 37.9% (11/29), median progression-free survival of 2.3 months, and overall survival of 9.5 months in patients with gastrointestinal stromal tumor harboring KIT exon 11 (n=17), exon 9 (n=8), or other mutations (PMID: 38662455). 38662455
KIT exon11 KIT exon17 gastrointestinal stromal tumor predicted - sensitive PLX9486 Phase I Actionable In a Phase I trial, PLX9486 treatment resulted in partial response with 33% decrease of tumor size after 4 cycles of therapy in a patient with gastrointestinal stromal tumor harboring a primary KIT exon 11 mutation and a secondary KIT exon 17 mutation, who progressed on prior Gleevec (imatinib mesylate) and Sutent (sunitinib) therapies (CTOS Annual Meeting, Nov 2017, abstract # 2771952). detail...
KIT exon11 KIT exon17 gastrointestinal stromal tumor predicted - sensitive DCC-3009 Preclinical Actionable In a preclinical study, DCC-3009 induced tumor regression in a xenograft model of gastrointestinal stromal tumor harboring KIT exon 11 and exon 17 mutations (Cancer Res (2023) 83 (7_Supplement): 4033). detail...
KIT exon11 KIT exon13 gastrointestinal stromal tumor predicted - sensitive DCC-3009 Preclinical Actionable In a preclinical study, DCC-3009 induced tumor regression in a xenograft model of gastrointestinal stromal tumor harboring KIT exon 11 and exon 13 mutations (Cancer Res (2023) 83 (7_Supplement): 4033). detail...
KIT exon9 gastrointestinal stromal tumor sensitive Imatinib Guideline Actionable Gleevec (imatinib) is included in guidelines for gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 9 mutations, as adjuvant therapy for patients with localized disease and as first-line therapy for patients with locally advanced, unresectable, or metastatic disease (PMID: 34560242; ESMO.org). 34560242 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...
KIT exon9 Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) had no effect on transformed cells expressing a KIT exon 9 mutation in culture (PMID: 25239608). 25239608
KIT exon9 gastrointestinal stromal tumor no benefit Ponatinib Phase II Actionable In a Phase II trial, Iclusig (ponatinib) treatment did not result in clinical benefit in gastrointestinal stromal tumor patients with KIT exon 9 mutations who had failed prior tyrosine kinase inhibitor treatment (PMID: 35091442; NCT01874665). 35091442
KIT exon9 Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells expressing a KIT exon 9 mutation demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT exon9 melanoma predicted - sensitive Regorafenib Case Reports/Case Series Actionable In a Phase II trial, second or later-line Stivarga (regorafenib) treatment resulted in a disease control rate of 73.9% (17/23, 2 complete responses, 5 partial responses), an objective response rate of 30.4% (7/23), and median overall survival (mOS) of 21.5 months in patients with melanoma harboring KIT exon 9, 11, 13, or 17 mutations, and improved mOS in patients with non-exon 11 mutations compared to patients with exon 11 mutations (24.9 mo vs 18.3 mo, P=0.042) (PMID: 37741071; NCT02501551). 37741071
KIT exon9 gastrointestinal stromal tumor sensitive Regorafenib Guideline Actionable Stivarga (regorafenib) is included in guidelines as third-line or subsequent therapy for locally advanced, unresectable, or metastatic gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 9 mutations (PMID: 34560242; ESMO.org). 34560242 detail...
KIT exon9 Advanced Solid Tumor resistant Regorafenib Preclinical Actionable In a preclinical study, Stivarga (regorafineb) had no effect on transformed cells expressing a KIT exon 9 mutation in culture (PMID: 25239608). 25239608
KIT exon9 gastrointestinal stromal tumor sensitive Sunitinib Clinical Study - Cohort Actionable In a retrospective analysis, GIST patients with KIT exon 9 mutations showed improved progression-free survival (PFS), overall survival, and objective response rate (ORR) compared to patients with exon 11 mutations, with a median PFS of 12.3 months vs. 7.0 months, and an ORR of 19% (8/42) vs. 6% (9/143) following treatment with Sutent (sunitinib) (PMID: 26772734). 26772734
KIT exon9 gastrointestinal stromal tumor sensitive Sunitinib Guideline Actionable Sutent (sunitinib) is included in guidelines as second-line or subsequent therapy for locally advanced, unresectable, or metastatic gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 9 mutations (PMID: 34560242; ESMO.org). detail... 34560242
KIT exon9 Advanced Solid Tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, transformed cells expressing a KIT exon 9 mutation demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT exon9 gastrointestinal stromal tumor no benefit Imatinib + Infigratinib Phase I Actionable In a Phase I trial, Truseltiq (infigratinib) and Gleevec (imatinib) combination therapy resulted in stable disease as best response in 58% (7/12) of patients with advanced gastrointestinal stromal tumor harboring KIT mutations in exon 9 (n=3), exon 11 (n=10), or other (n=3), however, the trial was discontinued due to toxicity concerns (PMID: 30101387). 30101387
KIT exon9 gastrointestinal stromal tumor sensitive Ripretinib Phase I Actionable In a Phase I trial, Qinlock (ripretinib) was well tolerated, resulted in an objective response in 11.3% (16/142, 16 partial responses) and stable disease in 61.3% (87/142) of patients with advanced gastrointestinal stromal tumor harboring KIT (n=135) or PDGFRA mutations (n=7), with a median progression-free survival of 5.6 months, 18.3% (26/142) of the patients harbored KIT exon 9 mutations (PMID: 32804590; NCT02571036). 32804590
KIT exon9 gastrointestinal stromal tumor sensitive Ripretinib Guideline Actionable Qinlock (ripretinib) is included in guidelines as fourth-line or subsequent therapy for locally advanced, unresectable, or metastatic gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 9 mutations (PMID: 34560242; ESMO.org). 34560242 detail...
KIT exon9 gastrointestinal stromal tumor predicted - sensitive IDRX-42 Phase I Actionable In a Phase I trial, IDRX-42 treatment demonstrated safety and resulted in 9 partial responses among 39 evaluable patients with gastrointestinal stromal tumors harboring a KIT exon 11 (n=27), exon 9 (n=13), or exon 8 (n=2) mutation with a clinical benefit rate of 71% overall and 100% as second-line treatment (J Clin Oncol 42, 2024 (suppl 16; abstr 11501); NCT05489237). detail...
KIT exon9 gastrointestinal stromal tumor no benefit Imatinib + Spartalizumab Phase Ib/II Actionable In a Phase Ib/II trial, the combination of Spartalizumab (PDR001) and Gleevec (imatinib) was tolerable but demonstrated limited efficacy in Phase II, with an objective response rate of 0% (0/29), a disease control rate of 37.9% (11/29), median progression-free survival of 2.3 months, and overall survival of 9.5 months in patients with gastrointestinal stromal tumor harboring KIT exon 9 (n=8), exon 11 (n=17), or other mutations (PMID: 38662455). 38662455
KIT P577_D579del thymic carcinoma predicted - sensitive Sorafenib Case Reports/Case Series Actionable In a clinical case report, a patient with advanced thymic carcinoma harboring KIT P577_D579del demonstrated response to treatment with Nexavar (sorafenib), with a decrease in tumor size (PMID: 20970876). 20970876
KIT K558delinsNP Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT K558delinsNP demonstrated sensitivity to treatment with Gleevec (imatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT K558delinsNP Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT K558delinsNP demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT K558delinsNP Advanced Solid Tumor sensitive Regorafenib Preclinical Actionable In a preclinical study, transformed cells expressing KIT K558delinsNP demonstrated sensitivity to treatment with Stivarga (regorafenib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT K558delinsNP Advanced Solid Tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT K558delinsNP demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT V560_Y578del gastrointestinal stromal tumor sensitive Axitinib Preclinical - Cell line xenograft Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and downstream signaling, reduced proliferation and induced cell-cycle arrest in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, and inhibited tumor growth in xenograft models (PMID: 31205508). 31205508
KIT V560_Y578del gastrointestinal stromal tumor sensitive Imatinib Preclinical Actionable In a preclinical study, a patient derived GIST cell line harboring KIT V560_Y578del demonstrated sensitivity to Gleevec (imatinib) in culture (PMID: 25239608). 25239608
KIT V560_Y578del gastrointestinal stromal tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited cell growth and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, but was less potent compared to AZD3229 (PMID: 32350132). 32350132
KIT V560_Y578del gastrointestinal stromal tumor sensitive Nintedanib Preclinical - Cell line xenograft Actionable In a preclinical study, Ofev (nintedanib) decreased Kit phosphorylation and downstream signaling, induced cell-cycle arrest and apoptosis, and inhibited proliferation of a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, and suppressed tumor growth in cell line xenograft models (PMID: 35194937). 35194937
KIT V560_Y578del gastrointestinal stromal tumor sensitive Ponatinib Preclinical - Patient cell culture Actionable In a preclinical study, a patient-derived gastrointestinal stromal tumor (GIST) cell line harboring KIT V560_Y578del demonstrated sensitivity to Iclusig (ponatinib) in culture (PMID: 25239608). 25239608
KIT V560_Y578del gastrointestinal stromal tumor sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Stivarga (regorafenib) inhibited growth of a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, but was less potent compared to AZD3229 (PMID: 32350132). 32350132
KIT V560_Y578del gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture (PMID: 31205508). 31205508
KIT V560_Y578del gastrointestinal stromal tumor sensitive Copanlisib Preclinical - Cell line xenograft Actionable In a preclinical study, Aliqopa (copanlisib) inhibited cell growth and PI3K signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, and inhibited tumor growth in cell line xenograft models (PMID: 32371592). 32371592
KIT V560_Y578del gastrointestinal stromal tumor sensitive Imatinib + Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) and Gleevec (imatinib) combination treatment demonstrated enhanced antiproliferative activity in gastrointestinal stromal tumor cells harboring KIT V560_Y578del in culture (PMID: 25673643). 25673643
KIT V560_Y578del gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited cell growth and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, but was less potent compared to AZD3229 (PMID: 32350132). 32350132
KIT V560_Y578del gastrointestinal stromal tumor resistant Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited cell growth and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, but was less potent compared to AZD3229 (PMID: 32350132). 32350132
KIT V560_Y578del gastrointestinal stromal tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, AZD3229 inhibited cell growth and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture (PMID: 32350132). 32350132
KIT V560_Y578del gastrointestinal stromal tumor sensitive Olverembatinib Preclinical - Cell line xenograft Actionable In a preclinical study, Olverembatinib (HQP1351) treatment inhibited Kit activity and proliferation of a gastrointestinal stromal tumor (GIST) cell line harboring KIT V560_Y578del in culture, and inhibited tumor growth in a cell line xenograft model (PMID: 31673329). 31673329
KIT V560_Y578del gastrointestinal stromal tumor sensitive Copanlisib + Imatinib Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of Aliqopa (copanlisib) and Gleevec (imatinib) demonstrated enhanced cell growth inhibition and increased apoptosis of gastrointestinal stromal tumor cells harboring KIT V560_Y578del in culture and in cell line xenograft models (PMID: 32371592). 32371592
KIT T417_D419delinsI Advanced Solid Tumor conflicting Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib mesylate) inhibited Kit phosphorylation in transformed cells over expressing KIT T417_D419delinsI in culture (PMID: 16015387). 16015387
KIT T417_D419delinsI Advanced Solid Tumor conflicting Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T417_D419delinsI were resistant to treatment with Gleevec (imatinib) in culture (PMID: 24205792). 24205792
KIT T417_D419delinsI Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T417_D419delinsI were sensitive to treatment with Sutent (sunitinib), demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT T417_D419delinsI Advanced Solid Tumor sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T417_D419delinsI were sensitive to treatment with Flumatinib, demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT D419del hematologic cancer no benefit Crenolanib Preclinical - Cell culture Actionable In a preclinical study, cells expressing KIT D419del did not respond to treatment with Crenolanib in culture (PMID: 31182436). 31182436
KIT D419del hematologic cancer no benefit Dasatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing KIT D419del did not respond to treatment with Sprycel (dasatinib) in culture (PMID: 31182436). 31182436
KIT D419del mastocytosis predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resolved symptoms and stopped disease progression after 32 months in a pediatric patient with progressive cutaneous mastocytosis harboring a somatic KIT D419del and a germline S840N mutation (PMID: 18567837). 18567837
KIT D419del Advanced Solid Tumor predicted - sensitive Imatinib Preclinical - Biochemical Actionable In a preclinical study, Gleevec (imatinib) treatment inhibited Kit autophosphorylation in transformed cells expressing KIT D419del in culture (PMID: 16143141). 16143141
KIT P551_W557delinsL gastrointestinal stromal tumor predicted - sensitive Ponatinib Case Reports/Case Series Actionable In a clinical study, a GIST patient harboring KIT P551_W557delinsL, resistant to Gleevec (imatinib), Sutent (sunitinib), and Stivarga (regorafenib), demonstrated sensitivity to Iclusig (ponatinib) treatment, which resulted in tumor regression and stable disease (PMID: 25239608). 25239608
KIT M552_K558del gastrointestinal stromal tumor predicted - resistant Ponatinib Case Reports/Case Series Actionable In a clinical study, a GIST patient harboring KIT M552_K558del, resistant to multiple tyrosine kinase inhibitors, demonstrated resistance to Iclusig (ponatinib) treatment as indicated by disease progression after 4 weeks of treatment (PMID: 25239608). 25239608
KIT C809G Advanced Solid Tumor predicted - resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, KIT C809G was resistant to inhibition of phosphorylation by Gleevec (imatinib) in cultured cells (PMID: 16954519). 16954519
KIT exon 11 del KIT C809G gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT C809G in culture (PMID: 38408285). 38408285
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...
KIT P551_V555delinsTL gastrointestinal stromal tumor sensitive Sorafenib Preclinical - Pdx Actionable In a preclinical study, Nexavar (sorafenib) inhibited Erk signaling, induced apoptosis, resulted in tumor growth inhibition in patient derived xenograft models of gastrointestinal stromal tumor harboring KIT P551_V555delinsTL (PMID: 19139124). 19139124
KIT M552_D572del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to partial responses in two patients with gastrointestinal stromal tumors harboring KIT M552_D572del, with a progression-free survival (PFS) of 25.2 mo and overall survival (OS) of 32 mo in one patient, and a PFS of 50.9 mo and OS of 53.9 mo in the second patient (PMID: 18294292). 18294292
KIT P551_E554del Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_E554del were resistant to treatment with Gleevec (imatinib) in culture (PMID: 25239608). 25239608
KIT P551_E554del Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_E554del demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT P551_E554del Advanced Solid Tumor resistant Regorafenib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_E554del were resistant to treatment with Stivarga (regorafenib) in culture (PMID: 25239608). 25239608
KIT P551_E554del Advanced Solid Tumor resistant Sunitinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_E554del were resistant to treatment with Sutent (sunitinib) in culture (PMID: 25239608). 25239608
KIT I571_D579dup Advanced Solid Tumor predicted - resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT I571_D579dup (KIT D579_H580insIDPTQLPYD) were moderately resistant to Gleevec (imatinib) in culture (PMID: 24205792). 24205792
KIT I571_D579dup Advanced Solid Tumor predicted - resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT I571_D579dup (KIT D579_H580insIDPTQLPYD) were moderately resistant to Sutent (sunitinib) in culture (PMID: 24205792). 24205792
KIT I571_D579dup Advanced Solid Tumor predicted - resistant Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT I571_D579dup (KIT D579_H580insIDPTQLPYD) were moderately resistant to Flumatinib in culture (PMID: 24205792). 24205792
KIT Q556_W557del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resutled in a partial response in a patient with gastrointestinal stromal tumor harboring KIT Q556_W557del , with a progression-free survival of 26.8 months and an overall survival of 47 months (PMID: 18294292). 18294292
KIT V559_T574del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumors harboring KIT V559_T574del, with a progression-free survival of 28 months and an overall survival of 54.9 months (PMID: 18294292). 18294292
KIT K558_G565delinsR gastrointestinal stromal tumor sensitive Imatinib Preclinical - Pdx Actionable In a preclinical study, Gleevec (imatinib) treatment resulted in tumor regression and decreased mitotic activity in gastrointestinal stromal tumor patient derived xenograft (PDX) models harboring KIT K558_G565delinsR (PMID: 27777285). 27777285
KIT K558_G565delinsR gastrointestinal stromal tumor sensitive Cabozantinib Preclinical - Pdx Actionable In a preclinical study, Cometriq (Cabometyx, cabozantinib) treatment resulted in tumor regression, decreased mitotic activity, and increased apoptotic activity in a gastrointestinal stromal tumor patient-derived xenograft (PDX) model harboring KIT K558_G565delinsR (PMID: 27777285). 27777285
KIT exon13 melanoma sensitive Nilotinib Phase II Actionable In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41), which included a partial response in 7.7% (1/13) of melanoma patients harboring KIT exon 13 mutations (PMID: 28327988). 28327988
KIT exon13 melanoma sensitive Nilotinib Phase II Actionable In a Phase II trial, Tasigna (nilotinib) treatment resulted in complete response in 5% (1/19) and partial response in 21% (4/19) of melanoma patients harboring KIT exon 11 or exon 13 mutations (PMID: 28843487; NCT01168050). 28843487
KIT exon13 melanoma sensitive Regorafenib Case Reports/Case Series Actionable In a Phase II trial, second or later-line Stivarga (regorafenib) treatment resulted in a disease control rate of 73.9% (17/23, 2 complete responses, 5 partial responses), an objective response rate of 30.4% (7/23), and median overall survival (mOS) of 21.5 months in patients with melanoma harboring KIT exon 9, 11, 13, or 17 mutations, and improved mOS in patients with non-exon 11 mutations compared to patients with exon 11 mutations (24.9 mo vs 18.3 mo, P=0.042) (PMID: 37741071; NCT02501551). 37741071
KIT exon13 melanoma not predictive Pembrolizumab Clinical Study Actionable In a retrospective analysis, real-world treatment with either Keytruda (pembrolizumab) or Toripalimab (JS001) resulted in a median disease-free survival of 33 months in melanoma patients harboring KIT mutations in either exon 11 (64.8%), exon 13 (17.6%), or exon 17 (17.6%) compared to 32 months in patients with wild-type BRAF, NRAS, and KIT (p=0.200) (PMID: 37403699). 37403699
KIT exon13 gastrointestinal stromal tumor sensitive Imatinib + MK2206 Preclinical - Cell culture Actionable In a preclinical study, the combination of Gleevec (imatinib) and MK2206 demonstrated synergy in inhibiting growth of a gastrointestinal stromal tumor cell line harboring a KIT exon 13 mutation in culture (PMID: 27370604). 27370604
KIT exon13 melanoma not predictive Toripalimab-tpzi Clinical Study Actionable In a retrospective analysis, real-world treatment with either Keytruda (pembrolizumab) or Loqtorz (toripalimab-tpzi) resulted in a median disease-free survival of 33 months in melanoma patients harboring KIT mutations in either exon 11 (64.8%), exon 13 (17.6%), or exon 17 (17.6%) compared to 32 months in patients with wild-type BRAF, NRAS, and KIT (p=0.200) (PMID: 37403699). 37403699
KIT exon13 gastrointestinal stromal tumor sensitive Adavosertib + Avapritinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Adavosertib (MK-1775) and Ayvakit (avapritinib) synergized to inhibit growth of a gastrointestinal stromal tumor cell line harboring a KIT exon 13 mutation in culture (PMID: 33320833). 33320833
KIT exon17 melanoma sensitive Regorafenib Case Reports/Case Series Actionable In a Phase II trial, second or later-line Stivarga (regorafenib) treatment resulted in a disease control rate of 73.9% (17/23, 2 complete responses, 5 partial responses), an objective response rate of 30.4% (7/23), and median overall survival (mOS) of 21.5 months in patients with melanoma harboring KIT exon 9, 11, 13, or 17 mutations, and improved mOS in patients with non-exon 11 mutations compared to patients with exon 11 mutations (24.9 mo vs 18.3 mo, P=0.042) (PMID: 37741071; NCT02501551). 37741071
KIT exon17 melanoma not predictive Pembrolizumab Clinical Study Actionable In a retrospective analysis, real-world treatment with either Keytruda (pembrolizumab) or Toripalimab (JS001) resulted in a median disease-free survival of 33 months in melanoma patients harboring KIT mutations in either exon 11 (64.8%), exon 13 (17.6%), or exon 17 (17.6%) compared to 32 months in patients with wild-type BRAF, NRAS, and KIT (p=0.200) (PMID: 37403699). 37403699
KIT exon17 gastrointestinal stromal tumor predicted - sensitive PLX9486 Phase I Actionable In a Phase I trial, PLX9486 demonstrated safety and preliminary efficacy, resulted in a progression-free survival of more than 24 weeks and partial response in 8.3% (2/24) of patients with advanced solid tumors, 20 of these patients had gastrointestinal stromal tumor that progressed on Gleevec (imatinib mesylate), and most harbored KIT exon 11 and exon 17 mutations (Journal of Clinical Oncology 36, no. 15_suppl (May 20 2018) 11509-11509; NCT02401815). detail...
KIT exon17 gastrointestinal stromal tumor sensitive Avapritinib Phase I Actionable In a Phase I trial, Ayvakit (avapritinib) demonstrated preliminary antitumor activity in gastrointestinal stromal tumor patients harboring KIT mutations, with reduced tumor burden in 38% (5/13) of patients, including 1 partial response and 4 stable diseases, and 3 of the 5 responding patients harbored KIT exon 17 mutations (EORTC-NCI-AACR 2016, Abs 6LBA). detail...
KIT exon17 mucosal melanoma predicted - sensitive Avapritinib Case Reports/Case Series Actionable In a clinical case study, Ayvakit (avapritinib) resulted in a reduction of the metastatic lesions, including brain metastases, in a patient with mucosal melanoma harboring a KIT exon 17 mutation (PMID: 35820244). 35820244
KIT exon17 Advanced Solid Tumor sensitive Avapritinib Preclinical Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of various tumor cell lines harboring KIT exon 17 mutations in culture, and induced tumor regression in an allograft animal model (PMID: 29093181). 29093181
KIT exon17 melanoma not predictive Toripalimab-tpzi Clinical Study Actionable In a retrospective analysis, real-world treatment with either Keytruda (pembrolizumab) or Loqtorz (toripalimab-tpzi) resulted in a median disease-free survival of 33 months in melanoma patients harboring KIT mutations in either exon 11 (64.8%), exon 13 (17.6%), or exon 17 (17.6%) compared to 32 months in patients with wild-type BRAF, NRAS, and KIT (p=0.200) (PMID: 37403699). 37403699
KIT exon17 gastrointestinal stromal tumor predicted - sensitive Pexidartinib + PLX9486 Phase I Actionable In a Phase I trial, PLX9486 and Pexidartinib (PLX3397) combination therapy demonstrated safety and preliminary efficacy, resulted in a partial response rate of 8.3% (1/12) and progression-free survival not yet reached in patients with advanced solid tumors, 11 of these patients had gastrointestinal stromal tumor that progressed on Gleevec (imatinib mesylate), and most harbored KIT exon 11 and exon 17 mutations (Journal of Clinical Oncology 36, no. 15_suppl (May 20 2018) 11509-11509; NCT02401815). detail...
KIT exon 11 del gastrointestinal stromal tumor predicted - sensitive Imatinib Phase III Actionable In a Phase III trial, 3-year adjuvant Gleevec (imatinib) treatment resulted in an improved 10-year overall survival rate (86% vs 64%, HR=0.34, p=0.0007) and 10-year recurrence-free survival rate (47% vs 29%, HR=0.48, p<0.001) compared to 1-year adjuvant treatment in patients with gastrointestinal stromal tumors harboring KIT exon 11 deletion or indel mutations (PMID: 37014660; NCT00116935). 37014660
KIT exon 11 del gastrointestinal stromal tumor predicted - sensitive Imatinib Phase III Actionable In a Phase III trial, gastrointestinal stromal tumor patients harboring KIT exon 11 deletions or indels demonstrated improved recurrence-free survival (RFS) with 3-year adjuvant Gleevec (imatinib) treatment (5-year RFS, 70%), compared to patients receiving 1-year treatment (5-year RFS, 41.3%) (PMID: 28334365). 28334365
KIT exon 11 del gastrointestinal stromal tumor predicted - sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring KIT exon 11 deletion in culture (PMID: 31085175). 31085175
KIT exon 11 del gastrointestinal stromal tumor sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring KIT exon 11 deletion in culture (PMID: 31085175). 31085175
KIT exon 11 del gastrointestinal stromal tumor no benefit Adavosertib Preclinical - Cell line xenograft Actionable In a preclinical study, Adavosertib (MK-1775) treatment resulted in reduced cell viability of gastrointestinal stromal tumor cells harboring a KIT exon 11 deletion in culture, but did not lead to improved tumor growth inhibition or prolonged survival compared to controls in cell line xenograft models (PMID: 33320833). 33320833
KIT exon 11 del gastrointestinal stromal tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion in culture (PMID: 38408285). 38408285
KIT exon 11 del gastrointestinal stromal tumor sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Stivarga (regorafenib) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring KIT exon 11 deletion in culture (PMID: 31085175). 31085175
KIT exon 11 del gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring KIT exon 11 deletion in culture (PMID: 31085175). 31085175
KIT exon 11 del gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion in culture (PMID: 38408285). 38408285
KIT exon 11 del gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Cell line xenograft Actionable In a preclinical study, Ayvakit (avapritinib) inhibited cell growth and induced cell cycle arrest in gastrointestinal stromal tumor cells harboring a KIT exon 11 deletion in culture, and inhibited tumor growth and led to prolonged survival in cell line xenograft models (PMID: 33320833). 33320833
KIT exon 11 del gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring KIT exon 11 deletion in culture (PMID: 31085175). 31085175
KIT exon 11 del gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Cell line xenograft Actionable In a preclinical study, Qinlock (ripretinib) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring KIT exon 11 deletion, resulted in tumor regression in cell line xenograft models (PMID: 31085175). 31085175
KIT exon 11 del gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion in culture (PMID: 38408285). 38408285
KIT exon 11 del gastrointestinal stromal tumor sensitive Adavosertib + Avapritinib Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of Adavosertib (MK-1775) and Ayvakit (avapritinib) demonstrated an additive effect on inhibiting cell growth and inducing apoptosis in gastrointestinal stromal tumor cells harboring a KIT exon 11 deletion in culture, and inhibited tumor growth and led to prolonged survival in cell line xenograft models (PMID: 33320833). 33320833
KIT exon 11 del gastrointestinal stromal tumor predicted - sensitive THE-630 Preclinical - Cell culture Actionable In a preclinical study, THE-630 treatment inhibited cell viability and KIT signaling in a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). detail...
KIT M552_V559del Advanced Solid Tumor sensitive Motesanib Diphosphate Preclinical - Cell culture Actionable In a preclinical study, Motesanib (AMG 706) inhibited KIT phosphorylation and growth of cells expressing KIT M552_V559del in culture (PMID: 20633291). 20633291
KIT P551I KIT M552_V559del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumors harboring KIT M552_V559del and KIT P551I, with a progression-free survival of 9 months and an overall survival of 19.5 months (PMID: 18294292). 18294292
KIT W557_V559delinsF gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Pdx Actionable In a preclinical study, Ayvakit (avapritinib) treatment resulted in tumor regression in patient-derived xenograft models of gastrointestinal stromal tumor harboring KIT W557_V559delinsF (PMID: 29093181). 29093181
KIT D419G hematologic cancer no benefit Crenolanib Preclinical - Cell culture Actionable In a preclinical study, cells expressing KIT D419G did not respond to treatment with Crenolanib in culture (PMID: 31182436). 31182436
KIT D419G hematologic cancer no benefit Dasatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing KIT D419G did not respond to treatment with Sprycel (dasatinib) in culture (PMID: 31182436). 31182436
KIT P551_K558del Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_K558del (reported as K550_W557del) demonstrated sensitivity to treatment with Gleevec (imatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT P551_K558del Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_K558del (reported as K550_W557del) demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT P551_K558del Advanced Solid Tumor sensitive Regorafenib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_K558del (reported as K550_W557del) demonstrated sensitivity to treatment with Stivarga (regorafenib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT P551_K558del Advanced Solid Tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_K558del (reported as K550_W557del) demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT E562_L576del gastrointestinal stromal tumor predicted - sensitive Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment resulted in an 80% pathological response and 23% RECIST response in a patient with a small bowel gastrointestinal stromal tumor harboring KIT E562_L576del (PMID: 35041493; NCT01991379). 35041493
KIT E554_Y570del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumor harboring KIT E554_Y570del, with a progression-free survival of 11.5 months and overall survival of 34.1 months (PMID: 18294292). 18294292
KIT V555_D572del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumor harboring KIT V555_D572del, with a progression-free survival of 49.4 mo and an overall survival of 59.3 mo (PMID: 18294292). 18294292
KIT V560_D572del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumors harboring KIT V560_D572del, with a progression-free survival of 16.5 months and an overall survival of 57.4 months (PMID: 18294292). 18294292
KIT Y570_Y578del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumors harboring KIT Y570_Y578del, with a progression-free survival of 19.1 months and an overall survival of 53.2 months (PMID: 18294292). 18294292
KIT D816_N822delinsMIDSI systemic mastocytosis predicted - sensitive Avapritinib Case Reports/Case Series Actionable In a clinical case study, Ayvakit (avapritinib) treatment resulted in improved symptoms, reduced tryptase levels, and reduced lymphadenopathy in a patient with systemic mastocytosis harboring KIT D816_N822delinsMIDSI (PMID: 38273969). 38273969