Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.
EZHIP
H3F3A
IDH2 mutation
TP53
astrocytoma
case report
gene panel
high-grade glioma
pediatric
thalamic glioma
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
31 03 2022
31 03 2022
Historique:
received:
17
02
2022
revised:
21
03
2022
accepted:
28
03
2022
entrez:
23
4
2022
pubmed:
24
4
2022
medline:
27
4
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 35456430
pii: genes13040624
doi: 10.3390/genes13040624
pmc: PMC9028123
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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