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Article

Biallelic TSC2 Mutations in a Patient With Chromophobe Renal Cell Carcinoma Showing Extraordinary Response to Temsirolimus.

Journal of the National Comprehensive Cancer Network : JNCCN - 1 Apr 2018

Maroto Pablo, Anguera Georgia, Roldan-Romero Juan Maria, Apellániz-Ruiz Maria, Algaba Ferran, Boonman Jacqueline, Nellist Mark, Montero-Conde Cristina, Cascón Alberto, Robledo Mercedes, Rodríguez-Antona Cristina

Abstract excerpt

mTOR inhibitors are used to treat renal cell carcinoma (RCC). Treatment response is variable and appears to correlate with genetic alterations that activate mTOR signaling. Recently, everolimus was suggested to be more effective than sunitinib in chromophobe RCC (chRCC), a tumor with frequent mTOR pathway defects. This report presents the genomic and functional characterization of a metastatic chRCC that showed...

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Source

Identifiers

PMID: 29632054
DOI: 10.6004/jnccn.2017.7041

Genes

TSC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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