An EWSR1-EZHIP fusion in a cerebral hemisphere astroblastoma

Neuropathology. 2023 Aug;43(4):340-344. doi: 10.1111/neup.12893. Epub 2023 Jan 9.

Abstract

Astroblastomas are considered extremely rare tumors and have not been formally graded. While gene mutations are used to diagnose these tumors, further research is needed for proper diagnosis and classification. This report presents a case of astroblastoma in a 44-year-old woman. A tumor was found to have histology consistent with astroblastoma, with no MN1 gene changes. Several mutations were present, and fusion of the EWSR1 and EZHIP genes was noted, which has never been reported before in the literature. Fusions of the EWSR1 gene could be characteristics of astroblastomas, in addition to MN1 alterations, and identification of these mutations could help in the diagnosis of these rare tumors.

Keywords: EWSR1; EZHIP; MN1; astroblastoma; tumor.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain Neoplasms* / diagnostic imaging
  • Brain Neoplasms* / genetics
  • Cerebrum* / pathology
  • Diagnosis, Differential
  • Female
  • Gene Fusion
  • Humans
  • Neoplasms, Neuroepithelial* / pathology
  • RNA-Binding Protein EWS / genetics
  • Trans-Activators / genetics
  • Transcription Factors / genetics

Substances

  • Trans-Activators
  • Transcription Factors
  • EWSR1 protein, human
  • RNA-Binding Protein EWS