Molecular Profile Detail

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Profile Name TSC1 inact mut
Gene Variant Detail

TSC1 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
TSC1 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...
TSC1 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...
TSC1 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
TSC1 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
TSC1 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
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