# Integrated molecular meta-analysis of 1,000 paediatric high-grade and diffuse intrinsic pontine gliomas

Source: https://onco.cc/key-papers/paper-mackay-paediatric-hgg-cancer-cell-2017/  
OnCo record `paper-mackay-paediatric-hgg-cancer-cell-2017` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

Pooling molecular data from a thousand childhood high-grade gliomas showed they are a collection of distinct diseases defined by mutations such as histone H3 K27M and G34R, IDH, and BRAF, with different ages, locations and survival, rather than a single tumour type.

## Summary

Meta-analysis of published and unpublished molecular data on 1,000 paediatric high-grade gliomas and diffuse intrinsic pontine gliomas, integrating mutations, copy number, methylation and expression to define subgroups by histone H3 and IDH status and by other drivers, with clinical correlates and survival.

Subgroups differed markedly in age, anatomical location and outcome, and the analysis identified targetable alterations (BRAF, NTRK, ALK, ROS1, PDGFRA) in a subset of tumours.

## Fields

- Kind: Key paper
- Last checked: 2026-09-17
- Journal: Cancer Cell
- Year: 2017
- DOI: 10.1016/j.ccell.2017.08.017
- Authors: Mackay A, Burford A, Carvalho D, et al.
- Findings: Histone H3 K27M and G34R/V, IDH1 and wild-type subgroups with distinct age, location and survival distributions.; Targetable kinase alterations identified in a minority, especially in infants.
- What it means: The 2021 WHO paediatric-type diffuse high-grade glioma categories, and the practice of profiling every childhood glioma for a targetable fusion or mutation, rest on this landscape.
- Caveats: Heterogeneous retrospective data with variable treatment information.

## Sources

- Cancer Cell 2017: https://doi.org/10.1016/j.ccell.2017.08.017
- PubMed: https://pubmed.ncbi.nlm.nih.gov/28966033/

## Connected records

- cancers: [Paediatric high-grade glioma (excluding diffuse midline glioma)](https://onco.cc/cancers/paediatric-high-grade-glioma/)
- journals: [Cancer Cell](https://onco.cc/journals/cancer-cell/)

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