Pediatric-type high-grade neuroepithelial tumors with CIC gene fusion share a common DNA methylation signature.

ABSTRACT: Pediatric neoplasms in the central nervous system (CNS) show extensive clinical and molecular heterogeneity and are fundamentally different from those occurring in adults. Molecular genetic testing contributes to accurate diagnosis and enables an optimal clinical management of affected children. Here, we investigated a rare, molecularly distinct type of pediatric high-grade neuroepithelial tumor (n = 18), that was identified through unsupervised visualization of genome-wide DNA methylation array data, together with copy number profiling, targeted next-generation DNA sequencing, and RNA transcriptome sequencing. DNA and/or RNA sequencing revealed recurrent fusions involving the capicua transcriptional repressor (CIC) gene in 10/10 tumor samples analyzed, with the most common fusion being CI

SUBMITTER: Sievers P 

PROVIDER: S-EPMC10039012 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature