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Characterization of molecular signatures of supratentorial ependymomas
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Journal Article
Characterization of molecular signatures of supratentorial ependymomas
2020
Overview
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.
Publisher
Nature Publishing Group US,Elsevier Limited
Subject
