Login / Signup

Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.

Anna Maria BuccolieroLaura GiuntiSelene MoscardiFrancesca CastiglioneAldesia ProvenzanoIacopo SardiMirko ScagnetLorenzo GenitoriChiara Caporalini
Published in: Genes (2022)
Pediatric high-grade gliomas (pHGGs) encompass a heterogeneous group of tumors. Three main molecular types ( H3.3 mutant, IDH mutant, and H3.3/IDH wild-type) and a number of subtypes have been identified. We provide an overview of pHGGs and present a mono-institutional series. We studied eleven non-related pHGG samples through a combined approach of routine diagnostic tools and a gene panel. TP53 and H3F3A were the most mutated genes (six patients each, 54%). The third most mutated gene was EGFR (three patients, 27%), followed by PDGFRA and PTEN (two patients each, 18%). Variants in the EZHIP , MSH2 , IDH1 , IDH2 , TERT , HRAS , NF1 , BRAF , ATRX , and PIK3CA genes were relatively infrequent (one patient each, 9%). In one case, gene panel analysis documented the presence of a pathogenic IDH2 variant (c.419G>A, p.Arg140Gln) never described in gliomas. More than one-third of patients carry a variant in a gene associated with tumor-predisposing syndromes. The absence of constitutional DNA did not allow us to identify their constitutional origin.
Keyphrases