%0 Journal Article
%A Schepke, Elizabeth
%A Löfgren, Maja
%A Pietsch, Torsten
%A Bontell, Thomas Olsson
%A Kling, Teresia
%A Wenger, Anna
%A Vega, Sandra Ferreyra
%A Danielsson, Anna
%A Dosa, Sandor
%A Holm, Stefan
%A Öberg, Anders
%A Nyman, Per
%A Eliasson-Hofvander, Marie
%A Sandström, Per-Erik
%A Pfister, Stefan
%A Lannering, Birgitta
%A Sabel, Magnus
%A Carén, Helena
%T DNA methylation profiling improves routine diagnosis of paediatric CNS tumours: a prospective population-based study.
%J Neuropathology & applied neurobiology
%V 48
%N 6
%@ 0305-1846
%C Oxford [u.a.]
%I Wiley-Blackwell
%M DKFZ-2022-01570
%P e12838
%D 2022
%Z 2022 Oct;48(6):e12838
%X Paediatric brain tumours are rare and establishing a precise diagnosis can be challenging. Analysis of DNA methylation profiles has been shown to be a reliable method to classify central nervous system (CNS) tumours with high accuracy. We aimed to prospectively analyse CNS tumours diagnosed in Sweden, to assess the clinical impact of adding DNA methylation-based classification to standard paediatric brain tumour diagnostics in an unselected cohort.All CNS tumours diagnosed in children (0-18 years) during 2017-2020 were eligible for inclusion provided sufficient tumour material was available. Tumours were analysed using genome-wide DNA methylation profiling and classified by the MNP brain tumour classifier. The initial histopathological diagnosis was compared to the DNA methylation-based classification. For incongruent results, a blinded re-evaluation was performed by an experienced neuropathologist.240 tumours with a histopathology-based diagnosis were profiled. A high-confidence methylation score of 0.84 or more was reached in 78
%K DNA methylation profiling (Other)
%K Molecular classification (Other)
%K Paediatric brain tumours (Other)
%K diagnostics (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:35892159
%R 10.1111/nan.12838
%U https://inrepo02.dkfz.de/record/180808