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Profile Name TSC2 V1067E
Gene Variant Detail

TSC2 V1067E (loss of function - predicted)

Relevant Treatment Approaches mTOR Inhibitor mTORC1 Inhibitor

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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