Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

ABSTRACT: The large diversity of central nervous system (CNS) tumor types in children and adolescents results in disparate patient outcomes and renders accurate diagnosis challenging. In this study, we prospectively integrated DNA methylation profiling and targeted gene panel sequencing with blinded neuropathological reference diagnostics for a population-based cohort of more than 1,200 newly diagnosed pediatric patients with CNS tumors, to assess their utility in routine neuropathology. We show that the multi-omic integration increased diagnostic accuracy in a substantial proportion of patients through annotation to a refining DNA methylation class (50%), detection of diagnostic or therapeutically relevant genetic alterations (47%) or identification of cancer predisposition syndromes (10%). Discrep

SUBMITTER: Sturm D 

PROVIDER: S-EPMC10115638 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature