Single-cell sequencing analysis characterizes common and cell-lineage-specific mutations in a muscle-invasive bladder cancer

被引：88

作者：

Li, Yingrui ^{[1
]}

Xu, Xun ^{[1
]}

Song, Luting ^{[1
,2
,3
,4
]}

Hou, Yong ^{[1
,5
,6
]}

Li, Zesong ^{[7
,8
,9
]}

Tsang, Shirley ^{[10
]}

Li, Fuqiang ^{[1
]}

Im, Kate McGee ^{[11
]}

Wu, Kui ^{[1
]}

Wu, Hanjie ^{[1
,12
]}

Ye, Xiaofei ^{[1
]}

Li, Guibo ^{[1
]}

Wang, Linlin ^{[1
]}

Zhang, Bo ^{[1
]}

Liang, Jie ^{[1
]}

Xie, Wei ^{[1
,5
,6
]}

Wu, Renhua ^{[1
]}

Jiang, Hui ^{[1
]}

Liu, Xiao ^{[1
]}

Yu, Chang ^{[1
]}

Zheng, Hancheng ^{[1
]}

Jian, Min ^{[1
]}

Nie, Liping ^{[13
]}

Wan, Lei ^{[14
]}

Shi, Min ^{[13
]}

Sun, Xiaojuan ^{[7
,8
,9
]}

Tang, Aifa ^{[7
,8
,9
]}

Guo, Guangwu ^{[1
]}

Gui, Yaoting ^{[13
]}

Cai, Zhiming ^{[8
,9
,13
]}

Li, Jingxiang ^{[1
]}

Wang, Wen ^{[2
]}

Lu, Zuhong ^{[5
,6
]}

Zhang, Xiuqing ^{[1
]}

Bolund, Lars ^{[1
,15
]}

Kristiansen, Karsten ^{[1
,16
]}

Wang, Jian ^{[1
]}

Yang, Huanming ^{[1
]}

Dean, Michael ^{[11
]}

Wang, Jun ^{[1
,16
,17
]}

机构：

[1] BGI Shenzhen, Beishan Ind Zone, Shenzhen 518083, Peoples R China

[2] Chinese Acad Sci, Kunming Inst Zool, State Key Lab Genet Resources & Evolut, CAS Max Planck Jr Res Grp, Kunming 650223, Yunnan, Peoples R China

[3] Chinese Acad Sci, Grad Univ, Beijing 100049, Peoples R China

[4] Wuhan Univ, Coll Life Sci, Wuhan 430072, Peoples R China

[5] Southeast Univ, Sch Biol Sci & Med Engn, Nanjing 210096, Jiangsu, Peoples R China

[6] Southeast Univ, State Key Lab Bioelect, Nanjing 210096, Jiangsu, Peoples R China

[7] Shenzhen Univ, Affiliated Hosp 1, Shenzhen Peoples Hosp 2, Shenzhen Key Lab Genitourinary Tumor, Shenzhen 518035, Peoples R China

[8] Shenzhen Second Peoples Hosp, Dept Urol, Shenzhen 518035, Peoples R China

[9] Shenzhen Univ, Inst Urogenital Dis, Shenzhen 518060, Peoples R China

[10] BioMatrix LLC, Rockville, MD 20850 USA

[11] NCI, Canc & Inflammat Program, Frederick, MD 21702 USA

[12] S China Univ Technol, Guangzhou Higher Educ Mega Ctr, Sch Biosci & Biotechnol, Guangzhou 510006, Guangdong, Peoples R China

[13] Peking Univ, Guangdong & Shenzhen Key Lab Male Reprod Med & Ge, Shenzhen PKU HKUST Med Ctr, Inst Urol,Shenzhen Hosp, Shenzhen 518036, Peoples R China

[14] Longgang Cent Hosp, Dept Urol, Shenzhen 518116, Peoples R China

[15] Univ Aarhus, Inst Human Genet, DK-8100 Aarhus, Denmark

[16] Univ Copenhagen, Novo Nordisk Fdn Ctr Basic Metab Res, DK-2200 Copenhagen, Denmark

[17] Univ Copenhagen, Dept Biol, DK-2200 Copenhagen, Denmark

来源：

GIGASCIENCE | 2012年 / 1卷

基金：

美国国家卫生研究院;

关键词：

Single-cell exome sequencing; Bladder cancer; Tumor evolution; Population genetics; MUTATOR PHENOTYPE; EVOLUTION; GENE; REVEALS; IDENTIFICATION; EXPRESSION; NIPBL;

D O I：

10.1186/2047-217X-1-12

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Background: Cancers arise through an evolutionary process in which cell populations are subjected to selection; however, to date, the process of bladder cancer, which is one of the most common cancers in the world, remains unknown at a single-cell level. Results: We carried out single-cell exome sequencing of 66 individual tumor cells from a muscle-invasive bladder transitional cell carcinoma (TCC). Analyses of the somatic mutant allele frequency spectrum and clonal structure revealed that the tumor cells were derived from a single ancestral cell, but that subsequent evolution occurred, leading to two distinct tumor cell subpopulations. By analyzing recurrently mutant genes in an additional cohort of 99 TCC tumors, we identified genes that might play roles in the maintenance of the ancestral clone and in the muscle-invasive capability of subclones of this bladder cancer, respectively. Conclusions: This work provides a new approach of investigating the genetic details of bladder tumoral changes at the single-cell level and a new method for assessing bladder cancer evolution at a cell-population level.

引用

页数：14

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