背景(考古学)
生物
染色体外DNA
髓母细胞瘤
遗传学
DNA
DNA测序
基因组
计算生物学
基因
古生物学
作者
Dacheng Zhao,Roel G.W. Verhaak
出处
期刊:Cancer Research
[American Association for Cancer Research]
日期:2024-01-04
卷期号:84 (4): 515-516
标识
DOI:10.1158/0008-5472.can-23-4025
摘要
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.
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