biostudies-literatureLiu SJNCI NIH HHSNIGMS NIH HHSNIH NCI1300-1309.e5https://www.ebi.ac.uk/biostudies/studies/S-EPMC7313374biostudies-literatureUnknown30(5)Ependymomas exist within distinct genetic subgroups, but the molecular diversity within individual ependymomas is unknown. We perform multiplatform molecular profiling of 6 spatially distinct samples from an ependymoma with C11orf95-RELA fusion. DNA methylation and RNA sequencing distinguish clusters of samples according to neuronal development gene expression programs that could also be delineated by differences in magnetic resonance blood perfusion. Exome sequencing and phylogenetic analysis reveal epigenomic intratumor heterogeneity and suggest that chromosomal structural alterations may precede accumulation of single-nucleotide variants during ependymoma tumorigenesis. In sum, these findings shed light on the oncogenesis and intratumor heterogeneity of ependymoma.Cell reportsMultiplatform Molecular Profiling Reveals Epigenomic Intratumor Heterogeneity in Ependymoma.PMC7313374T32 GM007618F32 CA213944K08 CA212279F32 CA213944-01K08 CA212279-01Spatz JAbate ARSeo KFerris SPLiu SJMagill STDaggubati VHilz SBollen AWLastella SDemaree BOrr BAVasudevan HNCostello JFOberheim Bush NARaleigh DRChoudhury AMcDermott MWVillanueva-Meyer JEfalseMultiplatform Molecular Profiling Reveals Epigenomic Intratumor Heterogeneity in Ependymoma.Ependymomas exist within distinct genetic subgroups, but the molecular diversity within individual ependymomas is unknown. We perform multiplatform molecular profiling of 6 spatially distinct samples from an ependymoma with C11orf95-RELA fusion. DNA methylation and RNA sequencing distinguish clusters of samples according to neuronal development gene expression programs that could also be delineated by differences in magnetic resonance blood perfusion. Exome sequencing and phylogenetic analysis reveal epigenomic intratumor heterogeneity and suggest that chromosomal structural alterations may precede accumulation of single-nucleotide variants during ependymoma tumorigenesis. In sum, these findings shed light on the oncogenesis and intratumor heterogeneity of ependymoma.2020-01-01T00:00:00Z2020 Feb2024-11-13T06:51:08.202Z2020-06-28T07:05:30ZS-EPMC73133743202345010.1016/j.celrep.2020.01.018