Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas

• DOI: 10.1186/s40478-021-01296-2
• Publication Date: 2021-12-11T10:02:34Z
• Authors: Margaret Shatara; Kathleen M. Schie...; Darren Klawinski; Diana L. Thomas; Christopher R. Pi...; Eric A. Sribnick; Jeremy Jones; Diana P. Rodriguez; Carol Deeg; Elizabeth Hamelberg; Stephanie LaHaye; Katherine E. Miller; James Fitch; Benjamin Kelly; Kristen Leraas; Ruthann Pfau; Peter White; Vincent Magrini; Richard K. Wilson; Elaine R. Mardis; Mohamed S. Abdelbaki; Jonathan L. Finlay; Daniel R. Boué; Catherine E. Cott...; David R. Ghasemi; Kristian W. Pajtler; Diana S. Osorio
• Keywords: Ependymoma; Histopathology

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