Journal Article

DKFZ-2021-03097

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas.

Shatara, M. ; Schieffer, K. M. ; Klawinski, D. ; Thomas, D. L. ; Pierson, C. R. ; Sribnick, E. A. ; Jones, J. ; Rodriguez, D. P. ; Deeg, C. ; Hamelberg, E. ; LaHaye, S. ; Miller, K. E. ; Fitch, J. ; Kelly, B. ; Leraas, K. ; Pfau, R. ; White, P. ; Magrini, V. ; Wilson, R. K. ; Mardis, E. R. ; Abdelbaki, M. S. ; Finlay, J. L. ; Boué, D. R. ; Cottrell, C. E. ; Ghasemi, D. R.DKFZ* ; Pajtler, K. W.DKFZ* ; Osorio, D. S.

2021
Biomed Central London

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Please use a persistent id in citations: doi:10.1186/s40478-021-01296-2

Abstract: Primary spinal cord tumors contribute to ≤ 10% of central nervous system tumors in individuals of pediatric or adolescent age. Among intramedullary tumors, spinal ependymomas make up ~ 30% of this rare tumor population. A twelve-year-old male presented with an intradural, extramedullary mass occupying the dorsal spinal canal from C6 through T2. Gross total resection and histopathology revealed a World Health Organization (WHO) grade 2 ependymoma. He recurred eleven months later with extension from C2 through T1-T2. Subtotal resection was achieved followed by focal proton beam irradiation and chemotherapy. Histopathology was consistent with WHO grade 3 ependymoma. Molecular profiling of the primary and recurrent tumors revealed a novel amplification of the MYC (8q24) gene, which was confirmed by fluorescence in situ hybridization studies. Although MYC amplification in spinal ependymoma is exceedingly rare, a newly described classification of spinal ependymoma harboring MYCN (2p24) amplification (SP-MYCN) has been defined by DNA methylation-array based profiling. These individuals typically present with a malignant progression and dismal outcomes, contrary to the universally excellent survival outcomes seen in other spinal ependymomas. DNA methylation array-based classification confidently classified this tumor as SP-MYCN ependymoma. Notably, among the cohort of 52 tumors comprising the SP-MYCN methylation class, none harbor MYC amplification, highlighting the rarity of this genomic amplification in spinal ependymoma. A literature review comparing our individual to reported SP-MYCN tumors (n = 26) revealed similarities in clinical, histopathologic, and molecular features. Thus, we provide evidence from a single case to support the inclusion of MYC amplified spinal ependymoma within the molecular subgroup of SP-MYCN.

Keyword(s): Amplification ; DNA methylation array ; Ependymoma ; FISH ; MYC ; MYCN ; Pediatric ; Spinal

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Contributing Institute(s):

1. B062 Pädiatrische Neuroonkologie (B062)
2. DKTK HD zentral (HD01)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2021

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