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PMID (31043947)
Authors Orlova KV, Yanus GA, Aleksakhina SN, Venina AR, Iyevleva AG, Demidov LV, Imyanitov EN
Title Lack of Response to Imatinib in Melanoma Carrying Rare KIT Mutation p.T632I.
Journal Case reports in oncology
Vol 12
Issue 1
Date 2019 Jan-Apr
URL
Abstract Text Approximately 15% of acral and mucous melanomas carry activating mutations in KIT oncogene. There is a diversity of spectrum of KIT mutations, with some of them rendering tumors responsive to imatinib, while others being imatinib-resistant or not studied yet. Here we present an acral melanoma patient with KIT р.T632I mutation, who failed to respond to imatinib.

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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
KIT T632I missense unknown KIT T632I lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). T632I has been identified in the scientific literature (PMID: 31043947), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2020). Y
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT T632I melanoma predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in worsened condition and continued disease progression and metastasis in a patient with metastatic melanoma harboring KIT T632I (PMID: 31043947). 31043947