期刊
CELL
卷 148, 期 5, 页码 886-895出版社
CELL PRESS
DOI: 10.1016/j.cell.2012.02.025
关键词
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资金
- National Basic Research Program of China (973 program) [2011CB809202, 2011CB809203]
- Chinese 863 program [2009AA022707, 2012AA02A201]
- Shenzhen Municipal Government of China [ZYC201005250020A]
- Key Laboratory Project, Shenzhen City [CX B200903 110066A, CXB201108250096A]
- Shenzhen Key Laboratory of Gene Bank for National Life Science
- Innovative Research Team of Guangdong
- Guangdong Enterprise Key Laboratory of Human Disease Genomics
- Shenzhen Key Laboratory, Shenzhen, China [CXB200903090055A, CXB201005250016A]
- Danish Natural Science Research Council
- Danish National Research Foundation
- National Natural Science Foundation of China
- Shenzhen Municipal Government
- Local Government of Yantian District of Shenzhen
- National Cancer Institute, National Institutes of Health, USA
Clear cell renal cell carcinoma (ccRCC) is the most common kidney cancer and has very few mutations that are shared between different patients. To better understand the intratumoral genetics underlying mutations of ccRCC, we carried out single-cell exome sequencing on a ccRCC tumor and its adjacent kidney tissue. Our data indicate that this tumor was unlikely to have resulted from mutations in VHL and PBRM1. Quantitative population genetic analysis indicates that the tumor did not contain any significant clonal subpopulations and also showed that mutations that had different allele frequencies within the population also had different mutation spectrums. Analyses of these data allowed us to delineate a detailed intratumoral genetic landscape at a single-cell level. Our pilot study demonstrates that ccRCC may be more genetically complex than previously thought and provides information that can lead to new ways to investigate individual tumors, with the aim of developing more effective cellular targeted therapies.
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