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Clinical Neuroradiology
Published in: Clinical Neuroradiology 4/2019

01-12-2019 | OriginalPaper

MRI Phenotype of RELA-fused Pediatric Supratentorial Ependymoma

Authors: Johannes Nowak, Stephanie Theresa Jünger, Henner Huflage, Carolin Seidel, Annika Hohm, Lindsey A. Vandergrift, Katja von Hoff, Stefan Rutkowski, Torsten Pietsch, Monika Warmuth-Metz

Published in: Clinical Neuroradiology | Issue 4/2019

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Abstract

Purpose

Epigenetic profiling has recently identified clinically and molecularly distinct subgroups of ependymoma. The 2016 World Health Organization (WHO) classification recognized supratentorial ependymomas (ST-EPN) with REL-associated protein/p65 (RELA) fusion as a clinicopathological entity. These tumors represent 70% of pediatric ST-EPN characterized by recurrent C11orf95-RELA fusion transcripts, which lead to pathological activation of the nuclear factor ‘kappa-light-chain-enhancer’ of activated B-cells (NF-κB) signaling pathway. Cyclin-dependent kinase inhibitor 2A (CDKN2A) inactivation has also been reported to correlate with poor prognosis. Here, we systematically describe magnetic resonance imaging (MRI) characteristics of RELA-fused ST-EPN, with respect to CDKN2A deletion status.

Methods

Our cohort of patients with ST-EPN (n = 57) was obtained from the database of the German Brain Tumor Reference Center of the German Society for Neuropathology and Neuroanatomy (DGNN), and tumors were diagnosed according to the 2016 WHO classification. Molecular characterization identified 47 RELA-fused tumors. We analyzed the preoperative MRI according to standardized criteria, and comparison was performed between CDKN2A altered (n = 21) and CDKN2A wild type (n = 26) tumors.

Results

The RELA-fused ST-EPN showed a spectrum of predominantly hemispheric tumors with cysts and necrosis. Statistical analysis on CDKN2A status revealed significant differences in terms of younger manifestation age (p =0.002) and more intratumoral hemorrhage in T2-weighted imaging (T2WI) (p =0.010) in wild type tumors; however, the location was not a parameter for differentiation.

Conclusion

This study first provides comprehensive MRI data for RELA-fused ST-EPN as a distinct entity, with further interest on CDKN2A genomic status. Patient stratification by morphological MRI alone seems difficult at present. The results may support ongoing research in ST-EPN within the framework of the radiogenomics concept.
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Metadata
Title
MRI Phenotype of RELA-fused Pediatric Supratentorial Ependymoma
Authors
Johannes Nowak
Stephanie Theresa Jünger
Henner Huflage
Carolin Seidel
Annika Hohm
Lindsey A. Vandergrift
Katja von Hoff
Stefan Rutkowski
Torsten Pietsch
Monika Warmuth-Metz
Publication date
01-12-2019
Publisher
Springer Berlin Heidelberg
Published in
Clinical Neuroradiology / Issue 4/2019
Print ISSN: 1869-1439
Electronic ISSN: 1869-1447
DOI
https://doi.org/10.1007/s00062-018-0704-2

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