Molecular Profile Detail

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Profile Name TSC2 inact mut
Gene Variant Detail

TSC2 inact mut (loss of function)

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 inact mut transitional cell carcinoma no benefit mTOR Inhibitor Sapanisertib Phase II Actionable In a Phase II trial, treatment with Sapanisertib (MLN0128) in metastatic urothelial carcinoma patients with either a TSC1 or TSC2 activating mutation (n=13) did not result in an objective response and led to a median overall survival of 3.4 months, and the trial was terminated early due to limited clinical activity and poor drug tolerability (Journal of Clinical Oncology 39, no. 6_suppl (February 20, 2021) 431-431; NCT03047213). detail...
TSC2 inact mut renal cell carcinoma predicted - sensitive mTORC1 Inhibitor Temsirolimus Clinical Study - Cohort Actionable In a retrospective analysis, 28% (12/43) of metastatic renal cell carcinoma patients who responded to rapalogs, Afinitor (everolimus) or Torisel (temsirolimus), harbored inactivating TSC1, TSC2 mutations and/or activating MTOR mutations, compared to 11% (4/36) in patients who did not respond to therapy (PMID: 26831717). 26831717
TSC2 inact mut Advanced Solid Tumor predicted - sensitive mTORC1 Inhibitor Nab-rapamycin Clinical Study Actionable In a clinical study, Fyarro (nab-rapamycin) treatment in patients with advanced solid tumors harboring mutations in TSC1 or TSC2 led to a partial response in 4 patients, stable disease in 2 patients and progressive disease in 1 patient of 7 enrolled patients (J Clin Oncol 39, no. 15_suppl (May 20, 2021) 3111-3111; NCT03817515). detail...
TSC2 inact mut renal cell carcinoma predicted - sensitive mTORC1 Inhibitor Everolimus Clinical Study - Cohort Actionable In a retrospective analysis, 28% (12/43) of metastatic renal cell carcinoma patients who responded to rapalogs, Afinitor (everolimus) or Torisel (temsirolimus), harbored inactivating TSC1, TSC2 mutations and/or activating MTOR mutations, compared to 11% (4/36) in patients who did not respond to therapy (PMID: 26831717). 26831717
TSC2 inact mut perivascular epithelioid cell tumor predicted - sensitive mTORC1 Inhibitor Nab-rapamycin Phase II Actionable In a Phase II trial (AMPECT), Fyarro (nab-rapamycin) treatment in patients with perivascular epithelioid cell tumors (PEComas) resulted in partial response in 20% (1/5) of patients with TSC1 mutations, 89% (8/9) of patients with TSC2 mutations, and 9% (1/11) of patients without a TSC1 or TSC2 mutation (PMID: 34637337; NCT02494570). 34637337
Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT05103358 Phase II Nab-rapamycin Phase 2 Basket Trial of Nab-sirolimus in Patients With Solid Tumors With Pathogenic Alterations in TSC1 or TSC2 Genes (PRECISION 1) Not yet recruiting USA 0
NCT03213678 Phase II LY3023414 PI3K/mTOR Inhibitor LY3023414 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial) Recruiting USA 1
NCT02201212 Phase II Everolimus Everolimus for Cancer With TSC1 or TSC2 Mutation Completed USA 0