EWSR1

Overview

One-paragraph summary of the gene’s role and why it matters in cancer genomics.

Alterations observed in the corpus

  • EWSR1(exon 8)::KLF15(exon 2) fusion in a myoepithelial carcinoma (MEC2); confirmed by RNA-seq and FISH PMID:36577525
  • EWSR1 serves as a noncanonical MYB fusion partner (EWSR1ex6::MYBex2 in-frame) in 1 metatypical sinonasal adenoid cystic carcinoma of the sphenoid sinus; FISH break-apart detected EWSR1 rearrangement in 1 additional fusion-negative case PMID:24418857
  • EWSR1::FLI1 fusion expressed at low levels in human embryonic mesenchymal stem cells (heMSCs) is the sole genetic event required to induce an Ewing sarcoma–like transcriptome, DDR defect, and metastatic tumor formation; binds intronic CA microsatellites in the cell-of-origin context PMID:25186949
  • Obligate fusion partner in all Ewing sarcoma tumors: EWSR1-FLI1 in 101/112 cases, EWSR1-ERG in 9, EWSR1-ETV1 in 1; two additional somatic missense mutations observed PMID:25223734
  • Identified as an RNA processing and export driver in CLL; grouped with XPO4 and NXF1 in a WES study of 538 CLL patients PMID:26466571
  • EWSR1-FLI1 fusion identified in an odontogenic case, reclassifying it as Ewing sarcoma (ES) with epithelial differentiation; EWSR1-ATF1 fusion identified in a clear cell odontogenic carcinoma (CCOC), a novel finding in odontogenic tumors PMID:27442865
  • EWSR1–FLI1 fusion diagnostic of Ewing sarcoma (ES) in two pediatric patients in the PIPseq cohort; one ES patient additionally showed a poor-prognosis transcriptomic signature (low PAX8/FHIT/CASP10/CHD2, high CHD11/FUS/MTA1); EWSR1–WT1 fusion diagnostic of desmoplastic small round cell tumor (DSRCT) in a separate patient PMID:28007021.
  • EWSR1 fusions (including EWSR1-FLI1 and EWSR1-FUS rearrangements) were characterized as hallmark oncogenic drivers in Ewing sarcoma PMID:28199314
  • EWSR1-FLI1 fusion detected in n=25 Ewing sarcoma (ES) cases within the MSK-IMPACT pan-cancer cohort of 10,336 patients PMID:28481359
  • EWSR1 is among the fusion genes catalogued in the TCGA pan-cancer fusion landscape analysis (9,624 samples, 33 cancer types); EWSR1 fusions, recurrently associated with SARC and other sarcomas, are part of the comprehensive fusion compendium generated by this study PMID:29617662.

Cancer types (linked)

  • Per cancer type: prevalence, co-mutation patterns, clinical significance.

Co-occurrence and mutual exclusivity

  • Linked partner genes with the relationship and the paper(s) reporting it.

Therapeutic relevance

  • Drugs (linked) targeting this gene or its pathway, with the studies supporting them.

Open questions

  • Conflicts or unresolved findings across papers.

Sources

This page was processed by crosslinker on 2026-05-14. - PMID:24418857

This page was processed by crosslinker on 2026-05-14. - PMID:25186949

This page was processed by crosslinker on 2026-05-14. - PMID:25223734

This page was processed by crosslinker on 2026-05-14. - PMID:26466571

This page was processed by crosslinker on 2026-05-14. - PMID:27442865

This page was processed by entity-page-writer on 2026-05-15. - PMID:28007021

This page was processed by wiki-cli on 2026-05-14. - PMID:28199314

This page was processed by wiki-cli on 2026-05-14. - PMID:28481359

This page was processed by wiki-cli on 2026-05-15. - PMID:29617662

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