Identification of prognostic markers in diffuse midline gliomas H3K27M-mutant.
Adolescent
Brain Neoplasms
/ pathology
Child
Child, Preschool
Cohort Studies
Comparative Genomic Hybridization
/ methods
Female
Glioma
/ genetics
High-Throughput Nucleotide Sequencing
/ methods
Histones
/ genetics
Humans
Immunohistochemistry
/ methods
Infant
Male
Mutation
Prognosis
Retrospective Studies
Young Adult
H3K27M-mutant
chomosomal profile
diffuse midline gliomas
molecular alterations
prognostic markers
translational study
Journal
Brain pathology (Zurich, Switzerland)
ISSN: 1750-3639
Titre abrégé: Brain Pathol
Pays: Switzerland
ID NLM: 9216781
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
05
02
2019
accepted:
18
07
2019
pubmed:
28
7
2019
medline:
30
9
2020
entrez:
27
7
2019
Statut:
ppublish
Résumé
Pediatric diffuse midline gliomas are devastating diseases. Among them, diffuse midline gliomas H3K27M-mutant are associated with worse prognosis. However, recent studies have highlighted significant differences in clinical behavior and biological alterations within this specific subgroup. In this context, simple markers are needed to refine the prognosis of diffuse midline gliomas H3K27M-mutant and guide the clinical management of patients. The aims of this study were (i) to describe the molecular, immunohistochemical and, especially, chromosomal features of a cohort of diffuse midline gliomas and (ii) to focus on H3K27M-mutant tumors to identify new prognostic markers. Patients were retrospectively selected from 2001 to 2017. Tumor samples were analyzed by immunohistochemistry (including H3K27me3, EGFR, c-MET and p53), next-generation sequencing and comparative genomic hybridization array. Forty-nine patients were included in the study. The median age at diagnosis was 9 years, and the median overall survival (OS) was 9.4 months. H3F3A or HIST1H3B mutations were identified in 80% of the samples. Within the H3K27M-mutant tumors, PDGFRA amplification, loss of 17p and a complex chromosomal profile were significantly associated with worse survival. Three prognostic markers were identified in diffuse midline gliomas H3K27M-mutant: PDGFRA amplification, loss of 17p and a complex chromosomal profile. These markers are easy to detect in daily practice and should be considered to refine the prognosis of this entity.
Identifiants
pubmed: 31348837
doi: 10.1111/bpa.12768
pmc: PMC8018027
doi:
Substances chimiques
Histones
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
179-190Informations de copyright
© 2019 International Society of Neuropathology.
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