Molecular Profile Detail

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Profile Name KIT M552_V559del
Gene Variant Detail

KIT M552_V559del (gain of function - predicted)

Relevant Treatment Approaches KIT Inhibitor

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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