[EWSR1-PATZ1 fusion sarcoma - A new case report and review of the literature]

Ann Pathol. 2021 Apr;41(2):207-211. doi: 10.1016/j.annpat.2020.08.004. Epub 2020 Oct 16.
[Article in French]

Abstract

Sarcoma with EWSR1-PATZ1 gene fusion is an exceedingly rare and newly described Ewing-like sarcoma harboring EWSR1 rearrangements involving fusion partners other than ETS family genes. The clinical, histopathologic and immunophenotypic features of cases reported in literature are fairly diverse and not specific. We report a new case report posing real challenges for histological and molecular diagnosis.

Keywords: EWSR1; Ewing-like; Fusion gene; PATZ1; Sarcoma; Sarcome; Transcrit de fusion.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Humans
  • Kruppel-Like Transcription Factors / genetics
  • Oncogene Proteins, Fusion* / genetics
  • RNA-Binding Protein EWS / genetics
  • Repressor Proteins / genetics
  • Sarcoma*
  • Sarcoma, Ewing* / diagnosis
  • Sarcoma, Ewing* / genetics
  • Soft Tissue Neoplasms*
  • Transcription Factors

Substances

  • EWSR1 protein, human
  • Kruppel-Like Transcription Factors
  • Oncogene Proteins, Fusion
  • PATZ1 protein, human
  • RNA-Binding Protein EWS
  • Repressor Proteins
  • Transcription Factors