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Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor |
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| Authors: | Xu Xun Hou Yong Yin Xuyang Bao Li Tang Aifa Song Luting Li Fuqiang Tsang Shirley Wu Kui Wu Hanjie He Weiming Zeng Liang Xing Manjie Wu Renhua Jiang Hui Liu Xiao Cao Dandan Guo Guangwu Hu Xueda Gui Yaoting Li Zesong Xie Wenyue Sun Xiaojuan Shi Min Cai Zhiming Wang Bin Zhong Meiming Li Jingxiang Lu Zuhong Gu Ning Zhang Xiuqing Goodman Laurie Bolund Lars Wang Jian Yang Huanming Kristiansen Karsten Dean Michael Li Yingrui Wang Jun |
| Institution: | 1 BGI-Shenzhen, Shenzhen 518083, China 2 BGI-Americas, Cambridge, MA 02142, USA 3 School of Biological Science and Medical Engineering, Southeast University, Nanjing 210096, China 4 State Key Laboratory of Bioelectronics, Southeast University, Nanjing 210096, China 5 Department of Urology, Shenzhen Second People's Hospital, Shenzhen 518035, China 6 The Institute of Urogenital Diseases, Shenzhen University, Shenzhen 518060, China 7 BioMatrix, LLC, Rockville, MD 20849, USA 8 School of Bioscience and Biotechnology, South China University of Technology, Guangzhou 510641, China 9 Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Shenzhen PKU-HKUST Medical Center, Shenzhen 518036, China 10 Institute of Human Genetics, University of Aarhus, Aarhus 8100, Denmark 11 Department of Biology, University of Copenhagen, DK-1165 Copenhagen, Denmark 12 The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, DK-1165 Copenhagen, Denmark 13 Cancer and Inflammation Program, National Cancer Institute, National Institutes of Health (NIH), Frederick, MD 21701, USA |
| Abstract: | 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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