Tuberous sclerosis complex-associated renal cell carcinoma, an underappreciated form of familial renal cancer, is characterized by activation of the TFEB/TFE3 pathway.

doi:10.1093/hmg/ddaf173

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Article

Tuberous sclerosis complex-associated renal cell carcinoma, an underappreciated form of familial renal cancer, is characterized by activation of the TFEB/TFE3 pathway.

Human molecular genetics - 8 Feb 2026

Ricketts Christopher J, Vocke Cathy D, Lang Martin, Velazquez Julia Medina, Srirama Vaishnavi S, Crooks Daniel R, Gamble Dionna, Di Malta Chiara, Reynolds Krista L, Gautam Rabindra, Raffeld Mark, Merino Maria J, Ballabio Andrea, Ball Mark W, Linehan W Marston

Abstract excerpt

OBJECTIVE: To describe the genetic, phenotypic, and pathologic manifestations of patients presenting with inherited kidney cancer and germline variants of the Tuberous Sclerosis Complex (TSC) genes. MATERIALS AND METHODS: Inherited kidney cancer patients were screened for germline RCC susceptibility gene variants and patient histories and clinical evaluations were performed. Renal tumors were evaluated for...

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Identifiers

PMID: 41217309
DOI: 10.1093/hmg/ddaf173
PMCID: PMC13158244

Genes

TFEB
TSC1
TSC2
GPNMB
NPC1

Provenance

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