High level MYCN amplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma.

ABSTRACT: We report a novel group of clinically aggressive spinal cord ependymomas characterized by Grade III histology, MYCN amplification, an absence of NF2 alterations or other recurrent pathogenic mutations, and a unique methylation classifier profile. Seven cases were found to have MYCN amplification in the course of routine mutational profiling of 552 patients with central nervous system tumors between December 2016 and July of 2019 and an eighth patient was identified from an unrelated set of cases. Methylation array analysis revealed that none of the 8 cases clustered with any of the nine previously described ependymoma methylation subgroups, and 7 of 8 formed their own tight unique cluster. Histologically all cases showed grade III features, and all demonstrated aggressive clinical behavior

SUBMITTER: Raffeld M 

PROVIDER: S-EPMC7346356 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature