Cancer Cell· 2017Q1· Review
Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma
- 1,263citations
- Q1SCImago
- 2017year
Short summary
An integrated analysis of over 1,000 pediatric high-grade gliomas and diffuse intrinsic pontine gliomas identified co-segregating mutations in histone-mutant subgroups, including loss of FBXW7 in H3.3G34R/V, TOP3A rearrangements in H3.3K27M, and BCOR mutations in H3.1K27M.
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Key points
- Integrated analysis of >1,000 pediatric high-grade glioma and diffuse intrinsic pontine glioma cases.
- Identified co-segregating mutations: FBXW7 loss in H3.3G34R/V, TOP3A rearrangements in H3.3K27M, BCOR mutations in H3.1K27M.
- Histone wild-type subgroups are defined by oncogenic events or methylation profiles similar to lower-grade tumors.
- Genomic aberrations increase with age, indicating infants have a distinct tumor biology.
- Uncommon pathway dysregulation in subsets further defines molecular diversity.
AI-generated from the title and abstract; the full text is not read.
Abstract
We collated data from 157 unpublished cases of pediatric high-grade glioma and diffuse intrinsic pontine glioma and 20 publicly available datasets in an integrated analysis of >1,000 cases. We identified co-segregating mutations in histone-mutant subgroups including loss of FBXW7 in H3.3G34R/V, TOP3A rearrangements in H3.3K27M, and BCOR mutations in H3.1K27M. Histone wild-type subgroups are refined by the presence of key oncogenic events or methylation profiles more closely resembling lower-grade tumors. Genomic aberrations increase with age, highlighting the infant population as biologically and clinically distinct. Uncommon pathway dysregulation is seen in small subsets of tumors, further defining the molecular diversity of the disease, opening up avenues for biological study and providing a basis for functionally defined future treatment stratification.
The authors' abstract, as published at the source. Cancer Cell, 2017 · DOI ↗
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Field: Genetics (Medicine)
GeneticsMedicine