Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology

To assess their utility in routine neuropathology, we prospectively integrated DNA methylation-based CNS tumor classification and targeted gene panel sequencing of tumor and constitutional DNA with blinded neuropathological reference diagnostics for a population-based cohort of > 1,200 newly-diagnosed pediatric patients. CNS tumor samples from 1,124 patients ≤21 years were profiled using the Illumina Infinium HumanMethylation450 (n = 187) and MethylationEPIC (n = 937) BeadChip arrays at the time of primary diagnosis.