ZFTA-YAP1 fusion-positive ependymoma can occur in the spinal cord: Letter to the editor

Brain Pathol. 2022 Jan;32(1):e13020. doi: 10.1111/bpa.13020. Epub 2021 Sep 10.

Abstract

We report a case of spinal ependymoma with ZFTA-YAP1 fusion, occurring in a 5-year-old boy who complained of back pain. It was high-grade ependymoma, developed in the spinal cord at the level of T9-12. Since ZFTA-YAP1 fusion-positive ependymoma has never been reported in the spinal cord, this case is exceptional and worth reporting because the anatomical location, genetics, and epigenetics are important parameters in the classification of the ependymal tumor. This is the first case of spinal ependymoma harboring ZFTA-fusion to be diagnosed by NGS and Sanger studies to the best of our knowledge.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Ependymoma* / pathology
  • Gene Fusion
  • Glioma*
  • Humans
  • Male
  • Spinal Cord / pathology
  • Spinal Cord Neoplasms* / genetics
  • Supratentorial Neoplasms* / pathology
  • YAP-Signaling Proteins

Substances

  • YAP-Signaling Proteins
  • YAP1 protein, human