Defining the Role of Extrachromosomal DNA Amplifications in Medulloblastoma.
Cancer Res
; 84(4): 515-516, 2024 02 15.
Article
en En
| MEDLINE
| ID: mdl-38175761
ABSTRACT
Circular extrachromosomal DNA (ecDNA), a common mechanism of oncogene amplification, has been identified as a major contributor to intratumoral heterogeneity and patient outcomes. In a recent publication in Nature Genetics, Chapman and colleagues further explored the role of ecDNA in the context of medulloblastoma. Using whole-genome sequencing, they found that 18% of the patients carry ecDNA amplification across a 468 medulloblastoma patient cohort. The presence of ecDNA was associated with worse survival. Single-cell FISH imaging and multiomic sequencing revealed that ecDNA copy number displayed a cell-to-cell variability within the sample, contributing to tumor heterogeneity. Furthermore, through sequencing and CRISPRi experiments, the authors uncovered frequent enhancer rewiring events on ecDNA that drive proliferation.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Cerebelosas
/
Meduloblastoma
/
Neoplasias
Límite:
Humans
Idioma:
En
Revista:
Cancer Res
Año:
2024
Tipo del documento:
Article