TFE3
Overview
TFE3 (Transcription Factor Binding to IGHM Enhancer 3) encodes a basic helix-loop-helix transcription factor of the MiT/TFE family. The ASPSCR1-TFE3 fusion (arising from t(X;17)(p11;q25)) is the defining molecular event of alveolar soft part sarcoma (ASPS), creating a constitutively active chimeric transcription factor. TFE3 rearrangements are also found in a subset of renal cell carcinomas.
Alterations observed in the corpus
- ASPSCR1-TFE3 fusion identified as diagnostic of alveolar soft part sarcoma (ASPS) in the PIPseq pediatric precision sequencing program (n=101, Columbia University). PMID:28007021
Cancer types (linked)
- ASPS: ASPSCR1-TFE3 fusion is the diagnostic molecular hallmark of alveolar soft part sarcoma; its detection confirmed diagnosis in the PIPseq cohort. PMID:28007021
Co-occurrence and mutual exclusivity
- No co-mutation data reported in the corpus beyond the defining ASPSCR1-TFE3 fusion in ASPS.
Therapeutic relevance
- No targeted therapy designated specifically for ASPSCR1-TFE3 in the corpus; TFE3 rearrangement is primarily diagnostic in ASPS.
Open questions
- Systemic therapy options for ASPS (an inherently chemoresistant sarcoma) remain limited; anti-angiogenic and immunotherapy approaches are under investigation in the field but not addressed in the corpus. PMID:28007021
Sources
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