Multiplatform Molecular Profiling Reveals Epigenomic Intratumor Heterogeneity in Ependymoma

• Published in: Cell reports (Cambridge) Vol. 30; no. 5; pp. 1300 - 1309.e5
• Main Authors: Liu, S. John, Magill, Stephen T., Vasudevan, Harish N., Hilz, Stephanie, Villanueva-Meyer, Javier E., Lastella, Sydney, Daggubati, Vikas, Spatz, Jordan, Choudhury, Abrar, Orr, Brent A., Demaree, Benjamin, Seo, Kyounghee, Ferris, Sean P., Abate, Adam R., Oberheim Bush, Nancy Ann, Bollen, Andrew W., McDermott, Michael W., Costello, Joseph F., Raleigh, David R.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 04.02.2020; Elsevier
• Subjects: Adult; brain tumor; C11orf95-RELA; cancer; Cell Differentiation - genetics; Cell Line, Tumor; Chromosome Aberrations; DNA methylation; ependymoma; Ependymoma - diagnostic imaging; Ependymoma - genetics; Epigenomics; exome sequencing; Gene Expression Profiling; Gene Expression Regulation, Neoplastic; Genetic Heterogeneity; Histone-Lysine N-Methyltransferase - genetics; Histone-Lysine N-Methyltransferase - metabolism; Humans; magnetic resonance imaging; Male; Mutation - genetics; Neurons - pathology; Phylogeny; Proteins - metabolism; RNA sequencing; SETD2; Transcription Factor RelA - metabolism; ependymoma; RNA sequencing; exome sequencing; magnetic resonance imaging; SETD2; C11orf95-RELA; DNA methylation; brain tumor; epigenomics; cancer

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 cluster...