TFEB
Overview
TFEB (Transcription Factor EB) is a member of the MiTF/TFE family of transcription factors. In renal cell carcinoma, TFEB is altered by translocation (classical tRCC) and also by focal amplification, broadening the spectrum of TFEB-driven tumors beyond classical translocation-defined cases.
Alterations observed in the corpus
- CLTC-TFEB fusion (novel) identified in a tRCC sample (8432T, reclassified translocation RCC); encodes an in-frame fusion preserving the TFEB bHLH domain PMID:25401301
- TFEB focal amplification — 490-kb chr6 amplicon with highest TFEB expression in sample 1216T; expands the spectrum of TFEB alterations beyond translocation; relevant when classical translocation FISH is negative PMID:25401301
Cancer types (linked)
- tRCC (translocation renal cell carcinoma) — CLTC-TFEB fusion and focal amplification; TFEB alterations define a subset of the MiTF-high subtype PMID:25401301
Co-occurrence and mutual exclusivity
- Part of the MiTF-high subtype alongside TFE3 and MITF fusions/amplifications; BIRC7 overexpression is a proposed co-occurring downstream marker PMID:25401301
Therapeutic relevance
- MiTF-high tumors (including TFEB-altered) are proposed as candidates for BIRC7-directed apoptosis-sensitizing agents PMID:25401301
Open questions
- TFEB amplification (focal chr6) is a newly recognized mechanism; clinical prevalence and optimal detection strategy (FISH vs. RNA-seq) require prospective validation PMID:25401301
Sources
This page was processed by entity-page-writer on 2026-05-11.