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| Profile Name | KIT V559A |
| Gene Variant Detail | |
| Relevant Treatment Approaches | KIT Inhibitor |
| Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|---|
| KIT V559A | melanoma | predicted - sensitive | KIT Inhibitor | 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 V559A | melanoma | predicted - sensitive | KIT Inhibitor | 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 | KIT Inhibitor | 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 | Advanced Solid Tumor | sensitive | KIT Inhibitor | 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 | acral lentiginous melanoma | predicted - sensitive | KIT Inhibitor | Nilotinib | Case Reports/Case Series | Actionable | In a Phase II trial, Tasigna (nilotinib) treatment resulted in an overall response rate of 16.7% (7/42, 1 complete and 6 partial responses) and a disease control rate of 57.1% in melanoma patients harboring KIT mutations (n=25), amplification (n=15), or both (n=2), including a partial response with a duration of response of 38 weeks in a patient with acral melanoma harboring KIT V559A (PMID: 26424760; NCT01099514). | 26424760 |
| KIT V559A | Advanced Solid Tumor | predicted - sensitive | KIT Inhibitor | IDRX-42 | Preclinical - Biochemical | Actionable | In a preclinical study, IDRX-42 inhibited kinase activity of KIT V559A in an vitro assay (PMID: 40018846). | 40018846 |