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- W2941503411 abstract "OBJECTIVES: Ependymomas are associated with distinct anatomic, genomic and clinical characteristics, but the diversity of molecular features within individual ependymomas is unknown. Here, we perform multiplatform molecular profiling of 6 spatially- and radiographically-distinct regions of an ependymoma with C11orf95-RELA fusion to elucidate intratumor heterogeneity. METHODS: Immunohistochemistry, whole exome sequencing, 850k DNA-methylation profiling, RNA-seq, and quantitative MRI were performed to define the genomic and radiographic characteristics of stereotactically-collected regions of an ependymoma. Molecular phylogenetic analysis was performed using methylation- and DNA-based variants, and functional assays were conducted in cell culture. RESULTS: All ependymoma regions were diffusely positive for L1CAM and contained the pathogenic C11orf95-RELA fusion, but not YAP1 fusion, along with chromosome 11 chromothripsis. Principal component analysis of transcriptomic data identified three molecularly distinct regions corresponding to stem cell/proliferation (OLIG2), neuronal differentiation (LBX1, HDAC9), and immune/stress response (CXCL2, HSPA1A), each of which reflected transcriptional programs of distinct cell types in neural development. Furthermore, transcriptional heterogeneity correlated with differences in blood perfusion quantified by MRI. Phylogenetic analysis of methylation-derived CNVs and whole exome-derived SNVs revealed early chromosomal structural alterations followed by point mutations that distinguish various regions. A novel mutation in SETD2 was discovered in all regions, and overexpression of this novel mutant (SETD2K2R) led to increased cell proliferation and viability, suggesting that epigenetic misregulation could be a driver of ependymoma heterogeneity. CONCLUSION: Anaplastic ependymoma is associated with a previously unappreciated molecular heterogeneity that may influence tumorigenesis and design of molecular therapeutics." @default.
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- W2941503411 date "2019-04-01" @default.
- W2941503411 modified "2023-09-27" @default.
- W2941503411 title "EPEN-02. MULTIPLATFORM MOLECULAR PROFILING REVEALS INTRATUMOR HETEROGENEITY IN EPENDYMOMA" @default.
- W2941503411 doi "https://doi.org/10.1093/neuonc/noz036.061" @default.
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