Utility of multimodality molecular profiling for pediatric patients with central nervous system tumors.

ABSTRACT:

Background

As our molecular understanding of pediatric central nervous system (CNS) tumors evolves, so too do diagnostic criteria, prognostic biomarkers, and clinical management decision making algorithms. Here, we explore the clinical utility of wide-breadth assays, including whole-exome sequencing (WES), RNA sequencing (RNA-seq), and methylation array profiling as an addition to more conventional diagnostic tools for pediatric CNS tumors.

Methods

This study comprises an observational, prospective cohort followed at a single academic medical center over 3 years. Paired tumor and normal control specimens from 53 enrolled pediatric patients with CNS tumors underwent WES. A subset of cases also underwent RNA-seq (n = 28) and/or methylation array analysis (n = 27).

Results</

SUBMITTER: Rajappa P 

PROVIDER: S-EPMC9034114 | biostudies-literature | 2022 Jan-Dec

REPOSITORIES: biostudies-literature