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Chromothripsis is rare in IDH-mutant gliomas compared to IDH-wild-type glioblastomas whereas whole-genome duplication is equally frequent in both tumor types.
Sourty, Baptiste; Basset, Laëtitia; Fontaine, Alix; Garcion, Emmanuel; Rousseau, Audrey.
Afiliación
  • Sourty B; Univ Angers, Nantes Université, Inserm, CNRS, CRCI2NA, SFR ICAT, F-49000 Angers, France.
  • Basset L; Department of Pathology, University Hospital of Angers, Angers, France.
  • Fontaine A; Univ Angers, Nantes Université, Inserm, CNRS, CRCI2NA, SFR ICAT, F-49000 Angers, France.
  • Garcion E; Department of Pathology, University Hospital of Angers, Angers, France.
  • Rousseau A; Univ Angers, Nantes Université, Inserm, CNRS, CRCI2NA, SFR ICAT, F-49000 Angers, France.
Neurooncol Adv ; 6(1): vdae059, 2024.
Article en En | MEDLINE | ID: mdl-38800696
ABSTRACT

Background:

Adult-type diffuse gliomas comprise IDH (isocitrate dehydrogenase)-mutant astrocytomas, IDH-mutant 1p/19q-codeleted oligodendrogliomas (ODG), and IDH-wild-type glioblastomas (GBM). GBM displays genome instability, which may result from 2 genetic events leading to massive chromosome alterations Chromothripsis (CT) and whole-genome duplication (WGD). These events are scarcely described in IDH-mutant gliomas. The better prognosis of the latter may be related to their genome stability compared to GBM.

Methods:

Pangenomic profiles of 297 adult diffuse gliomas were analyzed at initial diagnosis using SNP arrays, including 192 GBM and 105 IDH-mutant gliomas (61 astrocytomas and 44 ODG). Tumor ploidy was assessed with Genome Alteration Print and CT events with CTLPScanner and through manual screening. Survival data were compared using the Kaplan-Meier method.

Results:

At initial diagnosis, 37 GBM (18.7%) displayed CT versus 5 IDH-mutant gliomas (4.7%; P = .0008), the latter were all high-grade (grade 3 or 4) astrocytomas. WGD was detected at initial diagnosis in 18 GBM (9.3%) and 9 IDH-mutant gliomas (5 astrocytomas and 4 oligodendrogliomas, either low- or high-grade; 8.5%). Neither CT nor WGD was associated with overall survival in GBM or in IDH-mutant gliomas.

Conclusions:

CT is less frequent in IDH-mutant gliomas compared to GBM. The absence of CT in ODG and grade 2 astrocytomas might, in part, explain their genome stability and better prognosis, while CT might underlie aggressive biological behavior in some high-grade astrocytomas. WGD is a rare and early event occurring equally in IDH-mutant gliomas and GBM.
Palabras clave

Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: Neurooncol Adv Año: 2024 Tipo del documento: Article País de afiliación: Francia

Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: Neurooncol Adv Año: 2024 Tipo del documento: Article País de afiliación: Francia