Study
Integrated genomic characterization of IDH1 mutant Glioma malignant progression
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001001588 | Other |
Study Description
Gliomas represent approximately 30% of all central nervous system tumors, and 80% of malignant brain tumors. To understand the molecular mechanisms underlying the malignant progression of low-grade Isocitrate Dehydrogenase 1 (IDH1) mutant gliomas, we studied paired tumor samples from 41 patients, comparing higher-grade, progressed samples to their lower-grade counterparts. Integrated genomic analyses, including whole-exome sequencing, copy number, gene expression and DNA methylation profiling, demonstrated non-linear clonal expansion of the original tumors and identified oncogenic pathways driving progression. These include activation of the MYC and RTK-RAS-PI3K pathways, up-regulation of the FOXM1- and E2F2-mediated cell cycle transition genes, as well as epigenetic silencing of developmental transcriptional factors bound by Polycomb repressive complex 2 in human embryonic stem cells. Our results not only provide mechanistic insight into the genetic and epigenetic mechanisms driving glioma progression but also identify inhibition of the bromodomain and extra-terminal (BET) family ... (Show More)
Study Datasets 3 datasets.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001001887 |
Exome sequencing VCF files describing mutations during glioma progression.
|
82 | |
EGAD00010000869 |
RNA expression microarray
|
Illumina_HumanHT-12v4 | 62 |
EGAD00010000870 |
DNA methylation microarray
|
Illumina_Infinium_HumanMethylation450 | 48 |
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