Mutational topography reflects clinical neuroblastoma heterogeneity.
cancer genomics
clinical heterogeneity
complex rearrangements
ecDNA
mutational processes
mutational signatures
neuroblastoma
structural variation
tumor evolution
Journal
Cell genomics
ISSN: 2666-979X
Titre abrégé: Cell Genom
Pays: United States
ID NLM: 9918284260106676
Informations de publication
Date de publication:
11 Oct 2023
11 Oct 2023
Historique:
received:
28
04
2023
revised:
13
06
2023
accepted:
11
08
2023
medline:
23
10
2023
pubmed:
23
10
2023
entrez:
23
10
2023
Statut:
epublish
Résumé
Neuroblastoma is a pediatric solid tumor characterized by strong clinical heterogeneity. Although clinical risk-defining genomic alterations exist in neuroblastomas, the mutational processes involved in their generation remain largely unclear. By examining the topography and mutational signatures derived from all variant classes, we identified co-occurring mutational footprints, which we termed mutational scenarios. We demonstrate that clinical neuroblastoma heterogeneity is associated with differences in the mutational processes driving these scenarios, linking risk-defining pathognomonic variants to distinct molecular processes. Whereas high-risk
Identifiants
pubmed: 37868040
doi: 10.1016/j.xgen.2023.100402
pii: S2666-979X(23)00216-1
pmc: PMC10589636
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100402Informations de copyright
© 2023 The Author(s).
Déclaration de conflit d'intérêts
The authors declare no competing interests.
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