Characterization of molecular signatures of supratentorial ependymomas

Mod Pathol. 2020 Jan;33(1):47-56. doi: 10.1038/s41379-019-0329-2. Epub 2019 Aug 2.

Abstract

Ependymomas show poor correlation between World Health Organization grade and clinical outcome. A subgroup of supratentorial ependymomas are characterized by C11orf95-RELA fusions, presumed to be secondary to chromothripsis of chromosome 11, resulting in constitutive activation of the NF-κB signaling pathway and overexpression of cyclin D1, p65, and L1 cell adhesion molecule (L1CAM). These RELA-fused ependymomas are recognized as a separate, molecularly defined World Health Organization entity and might be associated with poor clinical outcome. In this study, we show that immunohistochemistry for NF-κB signaling components, such as L1CAM, p65, and cyclin D1, can help distinguish RELA-fused from non-RELA-fused supratentorial ependymomas. Furthermore, these three markers can reliably differentiate RELA-fused ependymomas from a variety of histologic mimics. Lastly, we report that RELA-fused ependymomas may be associated with different chromosomal copy number changes and molecular alterations compared to their non-RELA-fused counterparts, providing additional insight into the genetic pathogenesis of these tumors and potential targets for directed therapies.

MeSH terms

  • Adolescent
  • Adult
  • Biomarkers, Tumor / analysis
  • Child
  • Ependymoma / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • NF-kappa B / analysis*
  • Oncogene Fusion
  • Oncogene Proteins, Fusion / genetics
  • Proteins / genetics*
  • Supratentorial Neoplasms / genetics*
  • Transcription Factor RelA / genetics*
  • Young Adult

Substances

  • Biomarkers, Tumor
  • C11orf95 protein, human
  • NF-kappa B
  • Oncogene Proteins, Fusion
  • Proteins
  • RELA protein, human
  • Transcription Factor RelA