TP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors.
ATRX
TP53
giant cell glioblastoma
next-generation sequencing
tumor mutation load
Journal
Neuro-oncology advances
ISSN: 2632-2498
Titre abrégé: Neurooncol Adv
Pays: England
ID NLM: 101755003
Informations de publication
Date de publication:
Historique:
entrez:
10
7
2020
pubmed:
10
7
2020
medline:
10
7
2020
Statut:
epublish
Résumé
Giant cell glioblastoma (gcGBM) is a rare morphological variant of IDH-wildtype (IDHwt) GBM that occurs in young adults and have a slightly better prognosis than "classic" IDHwt GBM. We studied 36 GBMs, 14 with a histopathological diagnosis of gcGBM and 22 with a giant cell component. We analyzed the genetic profile of the most frequently mutated genes in gliomas and assessed the tumor mutation load (TML) by gene-targeted next-generation sequencing. We validated our findings using The Cancer Genome Atlas (TCGA) data. p53 was altered by gene mutation or protein overexpression in all cases, while driver gcGBMs have molecular features that contrast to "classic" IDHwt GBMs: unusually frequent
Sections du résumé
BACKGROUND
BACKGROUND
Giant cell glioblastoma (gcGBM) is a rare morphological variant of IDH-wildtype (IDHwt) GBM that occurs in young adults and have a slightly better prognosis than "classic" IDHwt GBM.
METHODS
METHODS
We studied 36 GBMs, 14 with a histopathological diagnosis of gcGBM and 22 with a giant cell component. We analyzed the genetic profile of the most frequently mutated genes in gliomas and assessed the tumor mutation load (TML) by gene-targeted next-generation sequencing. We validated our findings using The Cancer Genome Atlas (TCGA) data.
RESULTS
RESULTS
p53 was altered by gene mutation or protein overexpression in all cases, while driver
CONCLUSIONS
CONCLUSIONS
gcGBMs have molecular features that contrast to "classic" IDHwt GBMs: unusually frequent
Identifiants
pubmed: 32642724
doi: 10.1093/noajnl/vdz059
pii: vdz059
pmc: PMC7212869
doi:
Types de publication
Journal Article
Langues
eng
Pagination
vdz059Informations de copyright
© The Author(s) 2020. Published by Oxford University Press, the Society for Neuro-Oncology and the European Association of Neuro-Oncology.
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