Reference Detail

Ref Type Journal Article
PMID (20372153)
Authors Handolias D, Hamilton AL, Salemi R, Tan A, Moodie K, Kerr L, Dobrovic A, McArthur GA
Title Clinical responses observed with imatinib or sorafenib in melanoma patients expressing mutations in KIT.
Journal British journal of cancer
Vol 102
Issue 8
Date 2010 Apr 13
URL
Abstract Text Mutations in KIT are more frequent in specific melanoma subtypes, and response to KIT inhibition is likely to depend on the identified mutation.A total of 32 patients with metastatic acral or mucosal melanoma were screened for mutations in KIT exons 11, 13 and 17.KIT mutations were found in 38% of mucosal and in 6% of acral melanomas. Three patients were treated with imatinib and one with sorafenib. All four patients responded to treatment, but three have since progressed within the brain.The observed clinical responses support further investigation of KIT inhibitors in metastatic melanoma, selected according to KIT mutation status.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Therapy Description
Drug Name Trade Name Synonyms Drug Classes Drug Description
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 K642E vulvar melanoma predicted - sensitive Imatinib Clinical Study Actionable In a clinical case report, Gleevec (imatinib mesylate) treatment resulted in partial response in a patient with recurrent vulval melanoma harboring KIT K642E, reduced tumor mass by 35% (PMID: 20372153). 20372153
KIT exon 11 melanoma predicted - sensitive Imatinib Clinical Study Actionable In a clinical case report, Gleevec (imatinib mesylate) treatment resulted in partial response in a patient with metastasized anal melanoma harboring a 21 base-pair duplication in exon 11 of KIT, reduced pulmonary metastasis by 60% (PMID: 20372153). 20372153
KIT D820Y melanoma predicted - sensitive Sorafenib Clinical Study Actionable In a clinical case report, Nexavar (sorafenib) treatment resulted in stable disease in a patient with anal melanoma and pulmonary metastases harboring KIT D820Y (PMID: 20372153). 20372153
KIT L576P melanoma no benefit Imatinib Clinical Study Actionable In a clinical case report, Gleevec (imatinib mesylate) treatment resulted in initial tumor reduction followed by disease progression in a patient with metastasized labial melanoma harboring KIT L576P (PMID: 20372153). 20372153