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Article

TSC2-deficient tumors have evidence of T cell exhaustion and respond to anti-PD-1/anti-CTLA-4 immunotherapy.

JCI insight - 19 Apr 2018

Liu Heng-Jia, Lizotte Patrick H, Du Heng, Speranza Maria C, Lam Hilaire C, Vaughan Spencer, Alesi Nicola, Wong Kwok-Kin, Freeman Gordon J, Sharpe Arlene H, Henske Elizabeth P

Abstract excerpt

Tuberous sclerosis complex (TSC) is an incurable multisystem disease characterized by mTORC1-hyperactive tumors. TSC1/2 mutations also occur in other neoplastic disorders, including lymphangioleiomyomatosis (LAM) and bladder cancer. Whether TSC-associated tumors will respond to immunotherapy is unknown. We report here that the programmed death 1 coinhibitory receptor (PD-1) is upregulated on T cells in renal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29669930
DOI: 10.1172/jci.insight.98674
PMCID: PMC5931128

Genes

TSC2
TNF
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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