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|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|
|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.|
|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 of the Kit protein (UniProt.org). T632I is associated with resistance to select KIT inhibitors (PMID: 31043947), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2022).||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|