Single-Cell Exome Sequencing and Monoclonal Evolution of a JAK2-Negative Myeloproliferative Neoplasm

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• 作者：Yong Hou¹ ; ² ; ³ ; ¹¹ ; Luting Song¹ ; ⁴ ; ⁵ ; ⁶ ; ¹¹ ; Ping Zhu⁷ ; ¹¹ ; Bo Zhang¹ ; ¹¹ ; Ye Tao¹ ; ¹¹ ; Xun Xu¹ ; Fuqiang Li¹ ; Kui Wu¹ ; Jie Liang¹ ; Di Shao¹ ; Hanjie Wu¹ ; Xiaofei Ye¹ ; Chen Ye¹ ; Renhua Wu¹ ; Min Jian¹ ; Yan Chen⁷ ; Wei Xie¹ ; ³ ; Ruren Zhang¹ ; ³ ; Lei Chen¹ ; ⁴ ; ⁵ ; ⁶ ; Xin Liu¹ ; Xiaotian Yao¹ ; Hancheng Zheng¹ ; Chang Yu¹ ; Qibin Li¹ ; Zhuolin Gong¹ ; Mao Mao⁸ ; Xu Yang¹ ; Lin Yang¹ ; Jingxiang Li¹ ; Wen Wang⁵ ; Zuhong Lu² ; ³ ; Ning Gu² ; ³ ; Goodman Laurie¹ ; Lars Bolund¹ ; Karsten Kristiansen¹ ; ⁹ ; Jian Wang¹ ; Huanming Yang¹ ; Yingrui Li¹ ; ^{liyr@genomics.org.cn} ; Xiuqing Zhang¹ ; ^{zhangxq@genomics.org.cn} ; Jun Wang¹ ; ⁹ ; ¹⁰ ; ^{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：873-885
• 全文大小：1173 K

文摘

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Summary

Tumor heterogeneity presents a challenge for inferring clonal evolution and driver gene identification. Here, we describe a method for analyzing the cancer genome at a single-cell nucleotide level. To perform our analyses, we first devised and validated a high-throughput whole-genome single-cell sequencing method using two lymphoblastoid cell line single cells. We then carried out whole-exome single-cell sequencing of 90 cells from a JAK2-negative myeloproliferative neoplasm patient. The sequencing data from 58 cells passed our quality control criteria, and these data indicated that this neoplasm represented a monoclonal evolution. We further identified essential thrombocythemia (ET)-related candidate mutations such as SESN2 and NTRK1, which may be involved in neoplasm progression. This pilot study allowed the initial characterization of the disease-related genetic architecture at the single-cell nucleotide level. Further, we established a single-cell sequencing method that opens the way for detailed analyses of a variety of tumor types, including those with high genetic complex between patients.