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.EGA study EGAS00001001436