Supratentorial ependymoma with YAP1:FAM118B fusion: A case report

Neuropathology. 2021 Apr;41(2):133-138. doi: 10.1111/neup.12712. Epub 2021 Jan 22.

Abstract

We report a case of a 26-year-old Chinese man who had experienced three grand mal seizures in the past two months. Magnetic resonance imaging revealed a relatively well-circumscribed lesion in the left frontal lobe. A craniotomy with total excision of the tumor was performed. Histopathological investigations confirmed a grade 2 ependymoma according to the World Health Organization classification. Genetic analysis revealed a tumor harboring FAM118B fusion to YAP1, and no other genetic alterations or methylation of the O6 -methylguanine-DNA methyltransferase gene promoter were detected. This is the second case report of ependymoma with YAP1:FAM118B fusion.

Keywords: YAP1-FAM118B fusion; ependymoma; molecular classification; neuroepithelial neoplasm; supratentorial.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adaptor Proteins, Signal Transducing / metabolism
  • Adult
  • Ependymoma / diagnosis
  • Ependymoma / genetics*
  • Ependymoma / pathology*
  • Frontal Lobe / pathology*
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Seizures / pathology
  • Supratentorial Neoplasms / diagnosis
  • Supratentorial Neoplasms / genetics*
  • Supratentorial Neoplasms / pathology*
  • Transcription Factor RelA / genetics
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • YAP-Signaling Proteins

Substances

  • Adaptor Proteins, Signal Transducing
  • Transcription Factor RelA
  • Transcription Factors
  • YAP-Signaling Proteins
  • YAP1 protein, human

Supplementary concepts

  • Familial ependymoma