Jul 22, 2018

MRI Phenotype of RELA-fused Pediatric Supratentorial Ependymoma

Clinical Neuroradiology
Johannes NowakMonika Warmuth-Metz

Abstract

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. 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 w...Continue Reading

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Mentioned in this Paper

Cyclin-Dependent Kinase Inhibitor Proteins
Necrosis
Research
RELA wt Allele
Classification
Phenylphosphonothioic Acid, 2-Ethyl 2-(4-Nitrophenyl) Ester
Magnetic Resonance Imaging
Genome
Stratification
Cyclin-Dependent Kinase Inhibitor p16

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