Single-Cell Exome Sequencing Reveals Single-Nucleotide Mutation Characteristics of a Kidney Tumor

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• 作者：Xun Xu¹ ; ² ; ¹⁴ ; Yong Hou¹ ; ³ ; ⁴ ; ¹⁴ ; Xuyang Yin¹ ; ¹⁴ ; Li Bao¹ ; ¹⁴ ; Aifa Tang⁵ ; ⁶ ; ¹⁴ ; Luting Song¹ ; Fuqiang Li¹ ; Shirley Tsang⁷ ; Kui Wu¹ ; Hanjie Wu¹ ; ⁸ ; Weiming He¹ ; Liang Zeng¹ ; Manjie Xing¹ ; Renhua Wu¹ ; Hui Jiang¹ ; Xiao Liu¹ ; Dandan Cao¹ ; Guangwu Guo¹ ; Xueda Hu¹ ; Yaoting Gui⁹ ; Zesong Li⁵ ; ⁶ ; Wenyue Xie⁹ ; Xiaojuan Sun⁵ ; ⁶ ; Min Shi⁹ ; Zhiming Cai⁵ ; ⁶ ; ⁹ ; Bin Wang¹ ; Meiming Zhong¹ ; Jingxiang Li¹ ; Zuhong Lu³ ; ⁴ ; Ning Gu³ ; ⁴ ; Xiuqing Zhang¹ ; Laurie Goodman¹ ; Lars Bolund¹ ; ¹⁰ ; Jian Wang¹ ; Huanming Yang¹ ; Karsten Kristiansen¹ ; ¹¹ ; Michael Dean¹ ; ¹³ ; ^{deanm@mail.nih.gov} ; Yingrui Li¹ ; ^{liyr@genomics.org.cn} ; Jun Wang¹ ; ¹¹ ; ¹² ; ^{wangj@genomics.org.cn}
• 刊名：Cell
• 出版年：2012
• 出版时间：2 March, 2012
• 年：2012
• 卷：148
• 期：5
• 页码：886-895
• 全文大小：655 K

文摘

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Summary

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.