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Ref Type Journal Article
PMID (25139846)
Authors de Melo Campos P, Machado-Neto JA, Scopim-Ribeiro R, Visconte V, Tabarroki A, Duarte AS, Barra FF, Vassalo J, Rogers HJ, Lorand-Metze I, Tiu RV, Costa FF, Olalla Saad ST, Traina F
Title Familial systemic mastocytosis with germline KIT K509I mutation is sensitive to treatment with imatinib, dasatinib and PKC412.
Journal Leukemia research
Vol 38
Issue 10
Date 2014 Oct
URL
Abstract Text Mastocytosis are myeloproliferative neoplasms commonly related to gain-of-function mutations involving the tyrosine kinase domain of KIT. We herein report a case of familial systemic mastocytosis with the rare KIT K509I germ line mutation affecting two family members: mother and daughter. In vitro treatment with imatinib, dasatinib and PKC412 reduced cell viability of primary mast cells harboring KIT K509I mutation. However, imatinib was more effective in inducing apoptosis of neoplastic mast cells. Both patients with familial systemic mastocytosis had remarkable hematological and skin improvement after three months of imatinib treatment, suggesting that it may be an effective front line therapy for patients harboring KIT K509I mutation.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT K509I systemic mastocytosis sensitive 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 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 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