Round Cell Sarcoma with EWSR1-PATZ1 Gene Fusion in the Neck: Case Report and Review of the Literature

Laryngoscope. 2020 Dec;130(12):E833-E836. doi: 10.1002/lary.28554. Epub 2020 Mar 5.

Abstract

EWSR1-PATZ1 is a rare gene fusion recently recognized to occur in round and spindle cell sarcomas. To date, fewer than 20 cases have been described in the literature. However, no dedicated case reports have detailed its presentation in the head and neck region. We recently cared for a 52-year-old woman with an isolated, single right level 5A cervical mass. Excisional biopsy at an external hospital revealed pathology results consistent with EWSR1-PATZ1 polyphenotypic round and spindle cell sarcoma. The patient subsequently underwent surgical excision of the tumor and right neck lymph node dissection followed by adjuvant chemoradiation. Laryngoscope, 2020.

Keywords: EWSR1-PATZ1; neck tumor; sarcoma; spindle and round cell.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Female
  • Gene Fusion*
  • Head and Neck Neoplasms / diagnosis
  • Head and Neck Neoplasms / genetics*
  • Head and Neck Neoplasms / surgery
  • Humans
  • Kruppel-Like Transcription Factors / genetics*
  • Middle Aged
  • RNA-Binding Protein EWS / genetics*
  • Repressor Proteins / genetics*
  • Sarcoma / diagnosis
  • Sarcoma / genetics*
  • Sarcoma / surgery

Substances

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