TY  - JOUR
AU  - Jaunmuktane, Zane
AU  - Capper, David
AU  - Jones, David
AU  - Schrimpf, Daniel
AU  - Sill, Martin
AU  - Dutt, Monika
AU  - Suraweera, Nirosha
AU  - Pfister, Stefan
AU  - von Deimling, Andreas
AU  - Brandner, Sebastian
TI  - Methylation array profiling of adult brain tumours: diagnostic outcomes in a large, single centre.
JO  - Acta Neuropathologica Communications
VL  - 7
IS  - 1
SN  - 2051-5960
CY  - London
PB  - Biomed Central
M1  - DKFZ-2019-00662
SP  - 24
PY  - 2019
AB  - The introduction of the classification of brain tumours based on their DNA methylation profile has significantly changed the diagnostic approach for cases with ambiguous histology, non-informative or contradictory molecular profiles or for entities where methylation profiling provides useful information for patient risk stratification, for example in medulloblastoma and ependymoma. We present our experience that combines a conventional molecular diagnostic approach with the complementary use of a DNA methylation-based classification tool, for adult brain tumours originating from local as well as national referrals. We report the frequency of IDH mutations in a large cohort of nearly 1550 patients, EGFR amplifications in almost 1900 IDH-wildtype glioblastomas, and histone mutations in 70 adult gliomas. We demonstrate how additional methylation-based classification has changed and improved our diagnostic approach. Of the 325 cases referred for methylome testing, 179 (56
LB  - PUB:(DE-HGF)16
C6  - pmid:30786920
C2  - pmc:PMC6381711
DO  - DOI:10.1186/s40478-019-0668-8
UR  - https://inrepo02.dkfz.de/record/143043
ER  -