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Multiregion Whole Exome sequencing of paediatric High Grade Gliomas and DIPG

Paediatric High Grade Gliomas (pHGG) are defined by unique, specific and highly recurrent mutations in genes encoding histone H3 variants which mark robust subgroups with distinct age of onset, anatomical distribution, clinical outcome, histopathological and radiological features. We have used whole exome sequencing to identify the main recurrent somatic mutations occurring within pHGG including H3 histones and the coincident mutations and DNA copy number events in order to classify clinically relevant subgroups and the molecular events within them as new targets for therapy. Analysis of sequenced cases revealed multiple tumour subclones, spatially and temporally co-existing in a stable manner as observed by multiple sampling strategies.

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
EGAD00001004114 Illumina HiSeq 2000 79
Publications Citations
ATRX loss promotes tumor growth and impairs nonhomologous end joining DNA repair in glioma.
Sci Transl Med 8: 2016 328ra28
ATRX mutations and glioblastoma: Impaired DNA damage repair, alternative lengthening of telomeres, and genetic instability.
Mol Cell Oncol 3: 2016 e1167158
Characterizing and targeting PDGFRA alterations in pediatric high-grade glioma.
Oncotarget 7: 2016 65696-65706
Multi-focal sequencing of a diffuse intrinsic pontine glioma establishes PTEN loss as an early event.
NPJ Precis Oncol 1: 2017 32
Functional diversity and cooperativity between subclonal populations of pediatric glioblastoma and diffuse intrinsic pontine glioma cells.
Nat Med 24: 2018 1204-1215