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Profile Name | KIT D816E |
Gene Variant Detail | |
Relevant Treatment Approaches | KIT Inhibitor Avapritinib |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 | 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 | 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 | 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 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 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 | 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 | decreased response | 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 | 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 | 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 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 |