Enhancing the accuracy of molecular classification of pediatric CNS tumors: a dual-classifier approach using DNA methylation profiling.

ABSTRACT: DNA methylation-based classification has improved central nervous system (CNS) tumor diagnostics, but pediatric data on real-world implementation remain limited. We evaluated two DNA methylation-based classifiers-the Heidelberg classifier and the NIH/Bethesda (Methylscape) classifier-in a single-center cohort of pediatric patients. A total of 96 samples from 96 patients (75 CNS tumors, 10 non-CNS tumors, and 11 non-neoplastic CNS lesions) were profiled using Illumina MethylationEPIC arrays (850K/930K). We compared calibrated scores, concordance with integrated histopathological diagnoses, and the impact of technical factors such as tissue preservation, analyzable CpG count, and array version. Methylation classification agreed with integrated histopathology in 88.0% (66/75) of CNS tumors an

SUBMITTER: Moosa E 

PROVIDER: S-EPMC12916412 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature