E2F3

Overview

E2F3 encodes a transcription factor of the E2F family that drives cell-cycle progression. In bladder urothelial carcinoma, E2F3 amplification is notably enriched compared to other epithelial tumor types and is proposed as a bladder-lineage-specific driver analogous to MITF in melanoma. High E2F3 amplification correlates with advanced stage and neuroendocrine differentiation.

Alterations observed in the corpus

  • Amplification in 21% of bladder tumors (vs 4.9% in 1,932 non-urothelial epithelial tumors); associated with advanced stage and high E2F3-target gene signature; enriched in neuroendocrine-differentiated tumors (50% vs 17%; P=0.03); proposed as a bladder-lineage-specific driver PMID:23897969
  • Focal amplification in bladder TCC PMID:24121792
  • Focal amplification of E2F3 observed in 20% of muscle-invasive bladder cancers (peak region shared with SOX4) in TCGA urothelial carcinoma comprehensive analysis PMID:24476821
  • 6p22.3 amplification is a defining feature of CN Cluster B in urothelial carcinoma (P=0.001 vs other clusters); clusters with SETDB1 and MLLT11 1q21.1 amplification (P=0.0002) PMID:27749842
  • Recurrently amplified in MIBC; mutually exclusive with CDKN2A loss and FGFR3 mutation; co-occurs with TP53 loss and RB1 inactivation in the neuronal subtype; 10/20 neuronal tumors carry TP53+RB1 co-mutation or TP53+E2F3 co-alteration PMID:28988769

Cancer types (linked)

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • High E2F3-target gene signature in amplified tumors provides a potential transcriptomic biomarker; direct therapeutic strategies not described in the current corpus.

Open questions

  • Whether E2F3 amplification is a bladder-specific vulnerability amenable to targeted therapy (analogous to MITF in melanoma) remains to be established.

Sources

This page was processed by crosslinker on 2026-05-09. - PMID:24476821

This page was processed by crosslinker on 2026-05-09. - PMID:27749842

This page was processed by entity-page-writer on 2026-05-15. - PMID:28988769

This page was processed by wiki-cli on 2026-05-15.