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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. | ||||||||||||
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| 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 |
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| Gene Name | Source | Synonyms | Protein Domains | Gene Description | Gene Role |
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| Therapy Name | Drugs | Efficacy Evidence | Clinical Trials |
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| Drug Name | Trade Name | Synonyms | Drug Classes | Drug Description |
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| Gene | Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
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| 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, Jul 2025). | 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 |