Reference Detail

Ref Type

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	Vol	Issue	Date	Pages	Journal Short Title
Case reports in oncology	12	1	2019 Jan-Apr	109-112	Case Rep Oncol

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 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, Nov 2024).	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