Molecular Profile Detail

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Profile Name KIT K509I
Gene Variant Detail

KIT K509I (gain of function)

Relevant Treatment Approaches KIT Inhibitor

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Molecular Profile Indication/Tumor Type Response Type Relevant Treatment Approaches Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT K509I gastrointestinal stromal tumor no benefit KIT Inhibitor 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 sensitive KIT Inhibitor 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 systemic mastocytosis sensitive KIT Inhibitor 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 predicted - sensitive KIT Inhibitor 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 K509I mastocytosis sensitive KIT Inhibitor 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
Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries