The Role of Genetic Profiling in Pediatric Brain Tumors

Abstract

Histopathology and immunohistochemistry alone may be inadequate for accurately classifying diagnostically challenging pediatric central nervous system (CNS) tumors, which comprise a broad and heterogeneous group of more than 100 entities. 1 We present nine cases with an unresolved referring diagnosis in which DNA methylation profiling, alone or combined with next-generation sequencing (NGS), established the final diagnosis and describe three illustrative cases in detail to highlight the value of an integrated diagnostic approach.