Multi-region exome sequencing reveals genomic evolution from preneoplasia to lung adenocarcinoma

被引：100

作者：

Hu, Xin ^{[1
]}

Fujimoto, Junya ^{[2
]}

Ying, Lisha ^{[3
,4
]}

Fukuoka, Junya ^{[5
]}

Ashizawa, Kazuto ^{[6
]}

Sun, Wenyong ^{[7
]}

Reuben, Alexandre ^{[8
]}

Chow, Chi-Wan ^{[2
]}

McGranahan, Nicholas ^{[9
]}

Chen, Runzhe ^{[8
]}

Hu, Jinlin ^{[7
]}

Godoy, Myrna C. ^{[10
]}

Tabata, Kazuhiro ^{[5
]}

Kuroda, Kishio ^{[5
]}

Shi, Lei ^{[11
]}

Li, Jun ^{[1
]}

Behrens, Carmen ^{[8
]}

Parra, Edwin Roger ^{[2
]}

Little, Latasha D. ^{[1
]}

Gumbs, Curtis ^{[1
]}

Mao, Xizeng ^{[1
]}

Song, Xingzhi ^{[1
]}

Tippen, Samantha ^{[1
]}

Thornton, Rebecca L. ^{[1
]}

Kadara, Humam ^{[2
]}

Scheet, Paul ^{[1
,2
,12
]}

Roarty, Emily ^{[8
]}

Ostrin, Edwin Justin ^{[13
]}

Wang, Xu ^{[11
]}

Carter, Brett W. ^{[10
]}

Antonoff, Mara B. ^{[14
]}

Zhang, Jianhua ^{[1
]}

Vaporciyan, Ara A. ^{[1
]}

Pass, Harvey ^{[15
]}

Swisher, Stephen G. ^{[14
]}

Heymach, John, V ^{[8
]}

Lee, J. Jack ^{[16
]}

Wistuba, Ignacio I. ^{[2
,8
]}

Hong, Waun Ki ^{[8
]}

Futreal, P. Andrew ^{[1
]}

Su, Dan ^{[7
]}

Zhang, Jianjun ^{[1
,8
]}

机构：

[1] Univ Texas MD Anderson Canc Ctr, Dept Genom Med, Houston, TX 77030 USA

[2] Univ Texas MD Anderson Canc Ctr, Dept Translat Mol Pathol, Houston, TX 77030 USA

[3] Univ Chinese Acad Sci, Canc Hosp, Chinese Acad Sci, Inst Canc Res & Basic Med Sci,Zhejiang Canc Hosp, Hangzhou 310022, Zhejiang, Peoples R China

[4] Key Lab Diag & Treatment Technol Thorac Oncol Zhe, Hangzhou 310022, Zhejiang, Peoples R China

[5] Nagasaki Univ, Dept Pathol, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

[6] Nagasaki Univ, Dept Clin Oncol, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

[7] Univ Chinese Acad Sci, Zhejiang Canc Hosp, Chinese Acad Sci, Dept Pathol,Inst Canc Res & Basic Med Sci,Canc Ho, Hangzhou 310022, Zhejiang, Peoples R China

[8] Univ Texas MD Anderson Canc Ctr, Dept Thorac Head & Neck Med Oncol, Houston, TX 77030 USA

[9] UCL, Canc Res United Kingdom, Lung Canc Ctr Excellence, London WC1E 6BT, England

[10] Univ Texas MD Anderson Canc Ctr, Dept Diagnost Radiol, Houston, TX USA

[11] Univ Chinese Acad Sci, Zhejiang Canc Hosp, Chinese Acad Sci, Dept Radiol,Inst Canc Res & Basic Med Sci,Canc Ho, Hangzhou 310022, Zhejiang, Peoples R China

[12] Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USA

[13] Univ Texas MD Anderson Canc Ctr, Dept Gen Internal Med, Houston, TX 77030 USA

[14] Univ Texas MD Anderson Canc Ctr, Dept Thorac & Cardiovasc Surg, Houston, TX 77030 USA

[15] NYU, Dept Cardiothorac Surg, Langone Med Ctr, New York, NY 10016 USA

[16] Univ Texas MD Anderson Canc Ctr, Dept Biostat, Houston, TX 77030 USA

来源：

NATURE COMMUNICATIONS | 2019年 / 10卷 / 1期

关键词：

INTRATUMOR HETEROGENEITY; CANCER; NODULES; MUTATIONS; LANDSCAPE; SELECTION; RISK;

D O I：

10.1038/s41467-019-10877-8

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

There has been a dramatic increase in the detection of lung nodules, many of which are preneoplasia atypical adenomatous hyperplasia (AAH), adenocarcinoma in situ (AIS), minimally invasive adenocarcinoma (MIA) or invasive adenocarcinoma (ADC). The molecular landscape and the evolutionary trajectory of lung preneoplasia have not been well defined. Here, we perform multi-region exome sequencing of 116 resected lung nodules including AAH (n = 22), AIS (n = 27), MIA (n = 54) and synchronous ADC (n =13). Comparing AAH to AIS, MIA and ADC, we observe progressive genomic evolution at the single nucleotide level and demarcated evolution at the chromosomal level supporting the early lung carcinogenesis model from AAH to AIS, MIA and ADC. Subclonal analyses reveal a higher proportion of clonal mutations in AIS/MIA/ADC than AAH suggesting neoplastic transformation of lung preneoplasia is predominantly associated with a selective sweep of unfit subclones. Analysis of multifocal pulmonary nodules from the same patients reveal evidence of convergent evolution.

引用

页数：10

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