Molecular Profile Detail

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Profile Name TSC2 loss
Gene Variant Detail

TSC2 loss (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 loss Advanced Solid Tumor sensitive mTORC1 Inhibitor Buthionine sulfoximine + Sirolimus Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of Rapamune (sirolimus) and Buthionine sulfoximine (BSO) resulted in increased production of ROS and cell death in transformed cells deficient for TSC2 in culture, and apoptotic activity and tumor regression in ELT3 cell line xenograft models also deficient for TSC2 (PMID: 27197195). 27197195