Characterization of molecular signatures of supratentorial ependymomas

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
Matthew TorreDavid M Meredith

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.

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Citations

Jul 16, 2020·Acta Neuropathologica Communications·Matthew TorreSanda Alexandrescu
Jul 10, 2020·Neuro-oncology Advances·Aladine A ElsamadicyMichael DiLuna
Mar 14, 2021·Annales de pathologie·Alice Métais, Audrey Rousseau

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Methods Mentioned

BETA
light microscopy

Software Mentioned

Oncoscan
Oncopanel
BreaKmer

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