Sarcomas with EWSR1::Non-ETS Fusion (EWSR1::NFATC2 and EWSR1::PATZ1)

Surg Pathol Clin. 2024 Mar;17(1):31-55. doi: 10.1016/j.path.2023.07.001. Epub 2023 Aug 7.

Abstract

The wide application of increasingly advanced molecular studies in routine clinical practice has allowed a detailed, albeit still incomplete, genetic subclassification of undifferentiated round cell sarcomas. The WHO classification continues to include provisional molecular entities, whose clinicopathologic features are in the early stages of evolution. This review focuses on the clinicopathologic, molecular, and prognostic features of undifferentiated round cell sarcomas with EWSR1/FUS::NFATC2 or EWSR1::PATZ1 fusions. Classic histopathologic findings, uncommon variations, and diagnostic pitfalls are addressed, along with the utility of recently developed immunohistochemical and molecular markers.

Keywords: EWSR1::NFATC2 sarcoma; EWSR1::PATZ1 sarcoma; EWSR1::non-ETS sarcoma; Undifferentiated round cell sarcoma.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • Humans
  • Kruppel-Like Transcription Factors / genetics
  • NFATC Transcription Factors / genetics
  • Prognosis
  • RNA-Binding Protein EWS / genetics
  • Repressor Proteins / genetics
  • Sarcoma* / diagnosis
  • Sarcoma* / genetics
  • Sarcoma* / pathology
  • Transcription Factors

Substances

  • Transcription Factors
  • Biomarkers, Tumor
  • PATZ1 protein, human
  • Repressor Proteins
  • Kruppel-Like Transcription Factors
  • NFATC2 protein, human
  • NFATC Transcription Factors
  • EWSR1 protein, human
  • RNA-Binding Protein EWS