Characterization of molecular signatures of supratentorial ependymomas

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 signalin...

Full description

Saved in:
Bibliographic Details
Published inModern pathology Vol. 33; no. 1; pp. 47 - 56
Main Authors Torre, Matthew, Alexandrescu, Sanda, Dubuc, Adrian M., Ligon, Azra H, Hornick, Jason L., Meredith, David M.
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 2020
Elsevier Limited
Subjects
Online AccessGet full text

Cover

Loading…
More Information
Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0893-3952
1530-0285
DOI:10.1038/s41379-019-0329-2