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Title: Illumina Infinium 450K array data for Diffuse Intrinsic Pontine Glioma      
keywords:
Epigenomics
ID:
PRJNA215837
description:
Diffuse Intrinsic Pontine Glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children with no effective treatment and near 100% fatality. The failure of most therapies can be attributed to the delicate location of these tumors and choosing therapies based on assumptions that DIPGs are molecularly similar to adult disease. Recent studies have unraveled the unique genetic make-up of this brain cancer with nearly 80% harboring a K27M-H3.3 or K27M-H3.1 mutation. However, DIPGs are still thought of as one disease with limited understanding of the genetic drivers of these tumors. To understand what drives DIPGs we integrated whole-genome-sequencing with methylation, expression and copy-number profiling, discovering that DIPGs are three molecularly distinct subgroups (H3-K27M, Silent, MYCN) and uncovering a novel recurrent activating mutation in the activin receptor ACVR1, in 20% of DIPGs. Mutations in ACVR1 were constitutively activating, leading to SMAD phosphorylation and increased expression of downstream activin signaling targets ID1 and ID2. Our results highlight distinct molecular subgroups and novel therapeutic targets for this incurable pediatric cancer. Overall design: Illumina Infinium 450K arrays were performed according to the manufacturer's directions on bisulfite converted gDNA extracted from fresh frozen biopsy and autopsy brain tissue from DIPG patients. CpG methylation profiling on Illumina Infinium 450K arrays was performed for 28 paediatric DIPG samples.
accesstypes:
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landingpage: http://www.ncbi.nlm.nih.gov/bioproject/PRJNA215837
authentication:
none
authorization:
none
ID:
pmid:24705254
name:
Homo sapiens
ncbiID:
ncbitax:9606
abbreviation:
NCBI
homePage: http://www.ncbi.nlm.nih.gov
ID:
SCR:006472
name:
National Center for Biotechnology Information
homePage: http://www.ncbi.nlm.nih.gov/bioproject
ID:
SCR:004801
name:
NCBI BioProject
  • P30 CA016087/CA/NCI NIH HHS/United States

  • T32 HD040372/HD/NICHD NIH HHS/United States

  • 5P30CA016087-32/CA/NCI NIH HHS/United States

  • MOP 115004/Canadian Institutes of Health Research/Canada

  • UL1TR000038/TR/NCATS NIH HHS/United States

  • P30 CA008748/CA/NCI NIH HHS/United States

  • P30 CA060553/CA/NCI NIH HHS/United States

  • 115004-1/Canadian Institutes of Health Research/Canada

  • P30 CA014236/CA/NCI NIH HHS/United States

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