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Profile Name | TSC2 V1067E |
Gene Variant Detail | |
Relevant Treatment Approaches | mTOR Inhibitor mTORC1 Inhibitor |
Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|---|
TSC2 V1067E | chromophobe renal cell carcinoma | predicted - sensitive | mTORC1 Inhibitor | Temsirolimus | Case Reports/Case Series | Actionable | In a clinical case study, Torisel (temsirolimus) treatment led to a complete response in metastatic sites and an 80% decrease in primary tumor size in a patient with chromophobe renal cell carcinoma harboring biallelic mutations, TSC2 splice site mutation and TSC2 V1067E (PMID: 29632054). | 29632054 |