Multiplatform 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 cluster...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313374/
https://www.ncbi.nlm.nih.gov/pubmed/32023450
http://dx.doi.org/10.1016/j.celrep.2020.01.018
Descripción
Sumario: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.

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