Pediatric and Adolescent/Young Adult High-Grade Gliomas With Adult-Type Molecular Features. (PubMed, Pathol Int)
Recurrent alterations included NF1 (87.5%), PTEN (62.5%), and TERT promoter mutations (25%), with a single BRAF V600E-mutant tumor, while the classical +7/ - 10 signature was infrequent and MGMT promoter methylation was largely absent in GBM, IDH-wildtype. This study demonstrates that a substantial subset of pediatric and AYA HGGs harbor molecularly adult-type signatures, revealing the limitations of conventional histopathology and immunohistochemistry, challenging age-based diagnostic paradigms, and highlights the value of methylation profiling for diagnostic refinement, detection of targetable alterations in younger patients.