Tuberous sclerosis complex-associated renal cell carcinoma, an underappreciated form of familial renal cancer, is characterized by activation of the TFEB/TFE3 pathway
This study confirms the importance of screening individuals with a family history of kidney cancer for TSC1/TSC2 germline variants, even in the absence of canonical TSC manifestations, and indicates a critical role of TFE3 and TFEB as drivers of human TSC-deficient renal cell carcinoma.
Authors
- Chiara Di Malta (ORCID: https://orcid.org/0000-0001-6524-4354)
- Krista Reynolds
- Jose Joaquín Velázquez (ORCID: https://orcid.org/0000-0001-7672-0539)
- Mark W. Ball (ORCID: https://orcid.org/0000-0003-1780-2627)
- Maria J. Merino (ORCID: https://orcid.org/0000-0003-2098-8426)
- Mark Raffeld (ORCID: https://orcid.org/0000-0002-4039-6957)
- Cathy D. Vocke (ORCID: https://orcid.org/0000-0002-9256-7607)
- Martin Lang (ORCID: https://orcid.org/0000-0002-0242-6713)
- Vaishnavi S. Srirama
- Andrea Ballabio (ORCID: https://orcid.org/0000-0003-1381-4604)
- Daniel R. Crooks (ORCID: https://orcid.org/0000-0002-9198-4089)
- Rabindra Gautam
- Christopher J. Ricketts (ORCID: https://orcid.org/0000-0003-4814-7207)
- Dionna Gamble
- W. Marston Linehan (ORCID: https://orcid.org/0000-0001-7983-3109)
Institutions
- National Cancer Institute (US)
- Telethon Institute Of Genetics And Medicine (IT)
Publication Details
- Journal
- Human Molecular Genetics
- Published
- 2025-11-11
- DOI
- https://doi.org/10.1093/hmg/ddaf173
- Citations
- 1
- Primary Topic
- Tuberous Sclerosis Complex Research
- Type
- article
- Field-Weighted Citation Impact
- 1.16