Histone H3K27M Mutation Overrides Histological Grading in Pediatric Gliomas.
Brain
/ pathology
Brain Neoplasms
/ diagnosis
Child
Child, Preschool
Clinical Decision-Making
/ methods
DNA Mutational Analysis
/ standards
Disease-Free Survival
Egypt
/ epidemiology
Female
Follow-Up Studies
Genetic Testing
/ standards
Glioma
/ diagnosis
Histones
/ genetics
Humans
Kaplan-Meier Estimate
Lysine
/ genetics
Male
Medical Oncology
/ standards
Mutation
Neoplasm Grading
Practice Guidelines as Topic
Prognosis
Risk Assessment
/ methods
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
20 05 2020
20 05 2020
Historique:
received:
05
12
2019
accepted:
29
04
2020
entrez:
21
5
2020
pubmed:
21
5
2020
medline:
15
12
2020
Statut:
epublish
Résumé
Pediatric high-grade gliomas (HGG) are rare aggressive tumors that present a prognostic and therapeutic challenge. Diffuse midline glioma, H3K27M-mutant is a new entity introduced to HGG in the latest WHO classification. In this study we evaluated the presence of H3K27M mutation in 105 tumor samples histologically classified into low-grade gliomas (LGG) (n = 45), and HGG (n = 60). Samples were screened for the mutation in histone H3.3 and H3.1 variants to examine its prevalence, prognostic impact, and assess its potential clinical value in limited resource settings. H3K27M mutation was detected in 28 of 105 (26.7%) samples, and its distribution was significantly associated with midline locations (p-value < 0.0001) and HGG (p-value = 0.003). Overall and event- free survival (OS and EFS, respectively) of patients with mutant tumors did not differ significantly, neither according to histologic grade (OS p-value = 0.736, EFS p-value = 0.75) nor across anatomical sites (OS p-value = 0.068, EFS p-value = 0.153). Detection of H3K27M mutation in pediatric gliomas provides more precise risk stratification compared to traditional histopathological techniques. Hence, mutation detection should be pursued in all pediatric gliomas. Meanwhile, focusing on midline LGG can be an alternative in lower-middle-income countries to maximally optimize patients' treatment options.
Identifiants
pubmed: 32433577
doi: 10.1038/s41598-020-65272-x
pii: 10.1038/s41598-020-65272-x
pmc: PMC7239884
doi:
Substances chimiques
H3-3A protein, human
0
H3C2 protein, human
0
Histones
0
Lysine
K3Z4F929H6
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
8368Références
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