ETV1

Overview

ETV1 (ETS Variant Transcription Factor 1) is an ETS-family transcription factor involved in gene fusions in prostate cancer, analogous to ERG. ETV1 fusions (typically with androgen-responsive promoters) occur in a minority of prostate cancers and activate ETS-driven transcriptional programs.

Alterations observed in the corpus

  • ETV1 fusions (ETV1-FOXA1, ACSL3-ETV1) detected in prostate cancer PDX models (MDA PCa PDX series); these fusions did not correlate with ETV1 expression changes in this cohort, in contrast to TMPRSS2-ERG and TMPRSS2-ETV4 fusions PMID:38488813.
  • ETV1 expression is upregulated in cells carrying a subclonal CIC loss-of-function mutation (~30% VAF) in the MGH53 oligodendroglioma, consistent with derepression of CIC targets; mutation spans all three developmental compartments (stem/progenitor, oligodendrocyte-like, astrocyte-like) PMID:27806376.
  • Complex rearrangements (6 validated, including 4 interchromosomal translocations) and high-level amplification detected in acral melanoma ME032; known melanoma oncogene associated with MITF upregulation PMID:22622578
  • ETV1 identified as an ETS family fusion partner in prostate cancer WES cohort (Michigan, 112 tumors); ETV1 rearrangements represent a distinct subset of ETS-driven prostate cancers PMID:22722839
  • Alternative ETS fusion partner in prostate cancer detected by sequencing and validated by FISH in chromoplexy study of 57 prostate tumors PMID:23622249
  • Co-amplified with EGFR and IKZF1 at chr 7p in a metastasis-private high-level amplification event in metastatic CRC PMID:25164765
  • EWSR1-ETV1 fusion in 1/112 Ewing sarcoma WGS discovery-cohort tumors; rare ETS-family fusion partner of EWSR1 PMID:25223734
  • Recurrent ETS fusion in mCRPC (part of 56% ETS-fusion prevalence) PMID:26000489
  • Defines a less common ETS-fusion subtype (8%) in primary prostate cancer; cryptic rearrangement to chr14 near MIPOL1/FOXA1 identified in one high-expressing case lacking a canonical fusion PMID:26544944
  • Amplification in 1/19 (5%) FISH-confirmed 1p/19q-codeleted oligodendroglioma cases in the MSK ODG cohort PMID:28472509

Cancer types (linked)

  • PRAD — ETV1 fusions (ETV1-FOXA1, ACSL3-ETV1) detected in PDX models; functional significance unresolved PMID:38488813.
  • ODG — ETV1 derepressed in CIC-mutant oligodendroglioma cells across all developmental compartments PMID:27806376.

Co-occurrence and mutual exclusivity

  • ETV1 derepression co-occurs with ETV5 derepression in CIC-mutant oligodendroglioma cells PMID:27806376.

Therapeutic relevance

  • Not reported in the corpus.

Open questions

  • The biological consequences of ETV1-FOXA1 and ACSL3-ETV1 fusions detected in PDX models remain to be elucidated PMID:38488813.
  • Whether ETV1 derepression in CIC-mutant oligodendroglioma contributes to the developmental plasticity of tumor cells or represents a passenger effect is unresolved PMID:27806376.

Sources

This page was processed by crosslinker on 2026-05-14. - PMID:26544944

This page was processed by wiki-cli on 2026-05-14. - PMID:28472509

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