Spindle and Round Cell Sarcoma With EWSR1-PATZ1 Gene Fusion: A Sarcoma With Polyphenotypic Differentiation

Am J Surg Pathol. 2019 Feb;43(2):220-228. doi: 10.1097/PAS.0000000000001183.

Abstract

The evolving classification of round cell sarcomas is driven by molecular alterations. EWSR1-PATZ1 fusion positive spindle and round cell sarcoma is one such new tumor entity. Herein, we report 2 EWSR1-PATZ1 fusion positive spindle and round cell sarcomas with overlapping histologic features and polyphenotypic differentiation. The intra-abdominal tumors affected female patients, 31-and 53-year old. Both tumors showed sheets and nests of round to spindle cells, fine chromatin, tiny conspicuous nucleoli, moderate cytoplasm, and thick bands of intratumoral fibrosis. On immunohistochemistry, both tumors showed positivity for CD99, desmin, myogenin, MyoD1, S100, Sox10, CD34, and GFAP and were negative for keratin. Fluorescence in situ hybridization revealed rearrangement at EWSR1 locus. Next-generation sequencing-based RNA fusion assay revealed EWSR1-PATZ1 fusion in both cases. EWSR1-PATZ1 fusion positive spindle and round cell sarcomas show abundant intratumoral fibrosis and polyphenotypic differentiation, thus mimicking a range of tumors including desmoplastic small round cell tumor. The precise classification of this spindle and round cell sarcoma and its relationship to the Ewing sarcoma family of tumors remains to be determined.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cell Differentiation
  • Female
  • Humans
  • Kruppel-Like Transcription Factors / genetics*
  • Middle Aged
  • RNA-Binding Protein EWS / genetics*
  • Recombinant Fusion Proteins / genetics*
  • Repressor Proteins / genetics*
  • Sarcoma / genetics*
  • Sarcoma / pathology*
  • Soft Tissue Neoplasms / genetics
  • Soft Tissue Neoplasms / pathology

Substances

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