Molecular Pathology of Gliomas.

Humans Glioma / genetics Brain Neoplasms / genetics Mutation Pathology, Molecular Biomarkers, Tumor / genetics Isocitrate Dehydrogenase / genetics
1p19q loss ATRX mutation BRAF V600E mutation BRAF fusion Histone H3 K27M mutation IDH1/2 mutation

Journal

Clinics in laboratory medicine
ISSN: 1557-9832
Titre abrégé: Clin Lab Med
Pays: United States
ID NLM: 8100174

Informations de publication

Date de publication:
Jun 2024
Historique:
medline: 1 6 2024
pubmed: 1 6 2024
entrez: 31 5 2024
Statut: ppublish

Résumé

Gliomas are the most common adult and pediatric primary brain tumors. Molecular studies have identified features that can enhance diagnosis and provide biomarkers. IDH1/2 mutation with ATRX and TP53 mutations defines diffuse astrocytomas, whereas IDH1/2 mutations with 1p19q loss defines oligodendroglioma. Focal amplifications of receptor tyrosine kinase genes, TERT promoter mutation, and loss of chromosomes 10 and 13 with trisomy of chromosome 7 are characteristic features of glioblastoma and can be used for diagnosis. BRAF gene fusions and mutations in low-grade gliomas and histone H3 mutations in high-grade gliomas also can be used for diagnostics.

Identifiants

DOI: 10.1016/j.cll.2023.08.009 PMID: 38821638
pubmed: 38821638
pii: S0272-2712(23)00086-0
doi: 10.1016/j.cll.2023.08.009
pii:
doi:

Substances chimiques

Biomarkers, Tumor 0
Isocitrate Dehydrogenase EC 1.1.1.41

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

149-159

Informations de copyright

Copyright © 2023 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Disclosure Advisory Board Member - Arima Genomics; InnoSIGN Scientific Advisor and Stock Ownership - HaloDX; Heidelberg Epignostix.

Auteurs

Kristyn Galbraith (K)

Department of Pathology, NYU Langone Medical Center, 240 East 38th Street, 22nd Floor, New York, NY 10016, USA.

Matija Snuderl (M)

Department of Pathology, NYU Langone Medical Center, 240 East 38th Street, 22nd Floor, New York, NY 10016, USA. Electronic address: Matija.Snuderl@nyulangone.org.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Molecular Pathology of Gliomas.
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Tumeurs du tissu nerveux › Tumeurs neuroectodermiques › Tumeurs neuroépitheliales › Gliome › Molecular Pathology of Gliomas.
questionsmedicales.fr › Maladies du système nerveux › Tumeurs du système nerveux › Tumeurs du système nerveux central › Tumeurs du cerveau › Molecular Pathology of Gliomas.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Molecular Pathology of Gliomas.
questionsmedicales.fr › Professions de santé › Médecine › Anatomopathologie › Anatomopathologie moléculaire › Molecular Pathology of Gliomas.
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Marqueurs biologiques tumoraux › Molecular Pathology of Gliomas.
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Oxidoreductases › Alcohol oxidoreductases › NAD (+) and NADP (+) dependent Alcohol oxidoreductases › Isocitrate dehydrogenases › Molecular Pathology of Gliomas.