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Updated: May 12, 2025

Digital Spatial Profiling for Characterization of the Microenvironment in Adult-Type Diffusely Infiltrating Glioma
Published on: September 13, 2022
Genomic landscape of diffuse glioma revealed by whole genome sequencing
Ben Kinnersley1,2, Josephine Jung3,4, Alex J Cornish5
1Division of Genetics and Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK. b.kinnersley@ucl.ac.uk.
Abstract:
Diffuse gliomas are the commonest malignant primary brain tumour in adults. Herein, we present analysis of the genomic landscape of adult glioma, by whole genome sequencing of 403 tumours (256 glioblastoma, 89 astrocytoma, 58 oligodendroglioma; 338 primary, 65 recurrence). We identify an extended catalogue of recurrent coding and non-coding genetic mutations that represents a source for future studies and provides a high-resolution map of structural variants, copy number changes and global genome features including telomere length, mutational signatures and extrachromosomal DNA. Finally, we relate these to clinical outcome. As well as identifying drug targets for treatment of glioma our findings offer the prospect of improving treatment allocation with established targeted therapies.
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