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| Molecular Profile | KIT K509I |
| Therapy | Imatinib |
| Indication/Tumor Type | mastocytosis |
| Response Type | sensitive |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| KIT K509I | mastocytosis | sensitive | Imatinib | Case Reports/Case Series | Actionable | In a clinical case study, Gleevec (imatinib) treatment resulted in symptom improvements, liver size reduction, and decrease of enzymatic markers in a patient with familial mastocytosis harboring a germline KIT K509I mutation and inhibited growth of white blood cells derived from the patient in culture (PMID: 16183119). | 16183119 |
| PubMed Id | Reference Title | Details |
|---|---|---|
| (16183119) | A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. | Full reference... |