Molecular Profile Detail

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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

Profile Name	KIT V559A
Gene Variant Detail	KIT V559A (gain of function)
Relevant Treatment Approaches	KIT Inhibitor