DNA methylation profiling improves routine diagnosis of paediatric central nervous system tumours: A prospective population-based study.

ABSTRACT:

Aims

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.

Methods

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 w

SUBMITTER: Schepke E 

PROVIDER: S-EPMC9543790 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature