Journal article

HGG-20. DNA METHYLATION ANALYSIS OF HIGH-GRADE GLIOMA IN PATIENTS WITH MISMATCH REPAIR DEFICIENCIES

Andrew Dodgshun, Kohei Fukuoka, Brittany Campbell, Melissa Edwards, Alexandra Sexton-Oates, Valérie Larouche, Vanan Magimairajan, Scott Lindhorst, Michal Oren, Gary Mason, Bruce Crooks, Shlomi Constantini, Maura Massimino, Stefano Chiaravalli, Jagadeesh Ramdas, Warren Mason, Ashraf Shamvil, Roula Farah, An van Damme, Enrico Opocher Show all

Neuro-Oncology | Oxford University Press (OUP) | Published : 2018

Abstract

Abstract Patients with constitutional mismatch repair deficiency (CMMRD) are prone to developing high-grade glioma (HGG). These tumours acquire DNA polymerase mutations and become ultra-hypermutant harbouring hundreds of mutations per megabase. The impact of these mutations on methylation profile and the ability of the tool to differentiate MMRD tumours from others is unknown. In order to answer these questions, we performed either 450k/850K methylation analysis on a cohort of 52 CMMRD-HGG and compared them to 148 non-CMMRD HGG and normal brain controls. CMMRD HGG harbouring classic mutations in histone 3 or IDH genes had a methylation profile which clustered closely with non-MMRD tumours ha..

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