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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|