Genomic comparison of esophageal squamous cell carcinoma and its precursor lesions by multi-region whole-exome sequencing

Xi-Xi Chen, Qian Zhong, Yang Liu, Shu-Mei Yan, Zhang-Hua Chen, Shan-Zhao Jin, Tian-Liang Xia, Ruo-Yan Li, Ai-Jun Zhou, Zhe Su, Yu-Hua Huang, Qi-Tao Huang, Li-Yun Huang, Xing Zhang, Yan-Na Zhao, Jin-Ping Yun, Qiu-Liang Wu, Dong-Xin Lin, Fan Bai () and Mu-Sheng Zeng ()
Additional contact information
Xi-Xi Chen: Peking University
Qian Zhong: Sun Yat-Sen University Cancer Center
Yang Liu: Peking University
Shu-Mei Yan: Sun Yat-Sen University Cancer Center
Zhang-Hua Chen: Peking University
Shan-Zhao Jin: Peking University
Tian-Liang Xia: Sun Yat-Sen University Cancer Center
Ruo-Yan Li: Peking University
Ai-Jun Zhou: Sun Yat-Sen University Cancer Center
Zhe Su: Peking University
Yu-Hua Huang: Sun Yat-Sen University Cancer Center
Qi-Tao Huang: Sun Yat-Sen University Cancer Center
Li-Yun Huang: Sun Yat-Sen University Cancer Center
Xing Zhang: Sun Yat-Sen University Cancer Center
Yan-Na Zhao: Peking University
Jin-Ping Yun: Sun Yat-Sen University Cancer Center
Qiu-Liang Wu: Sun Yat-Sen University Cancer Center
Dong-Xin Lin: Sun Yat-Sen University Cancer Center
Fan Bai: Peking University
Mu-Sheng Zeng: Sun Yat-Sen University Cancer Center

Nature Communications, 2017, vol. 8, issue 1, 1-12

Abstract: Abstract Esophageal squamous dysplasia is believed to be the precursor lesion of esophageal squamous cell carcinoma (ESCC); however, the genetic evolution from dysplasia to ESCC remains poorly understood. Here, we applied multi-region whole-exome sequencing to samples from two cohorts, 45 ESCC patients with matched dysplasia and carcinoma samples, and 13 tumor-free patients with only dysplasia samples. Our analysis reveals that dysplasia is heavily mutated and harbors most of the driver events reported in ESCC. Moreover, dysplasia is polyclonal, and remarkable heterogeneity is often observed between tumors and their neighboring dysplasia samples. Notably, copy number alterations are prevalent in dysplasia and persist during the ESCC progression, which is distinct from the development of esophageal adenocarcinoma. The sharp contrast in the prevalence of the ‘two-hit’ event on TP53 between the two cohorts suggests that the complete inactivation of TP53 is essential in promoting the development of ESCC.

Date: 2017
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DOI: 10.1038/s41467-017-00650-0

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