Brain tumour diagnostics using a DNA methylation-based classifier as a diagnostic support tool.

ABSTRACT:

Aims

Methylation profiling (MP) is increasingly incorporated in the diagnostic process of central nervous system (CNS) tumours at our centres in The Netherlands and Scandinavia. We aimed to identify the benefits and challenges of MP as a support tool for CNS tumour diagnostics.

Methods

About 502 CNS tumour samples were analysed using (850 k) MP. Profiles were matched with the DKFZ/Heidelberg CNS Tumour Classifier. For each case, the final pathological diagnosis was compared to the diagnosis before MP.

Results

In 54.4% (273/502) of all analysed cases, the suggested methylation class (calibrated score ≥0.9) corresponded with the initial pathological diagnosis. The diagnosis of 24.5% of these cases (67/273) was more refined after incorporation of the MP result. In 9.8% o

SUBMITTER: Priesterbach-Ackley LP 

PROVIDER: S-EPMC7496466 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature