Genomic alterations driving precancerous to cancerous lesions in esophageal cancer development

被引：32

作者：

Chang, Jiang ^{[1
]}

Zhao, Xuan ^{[2
]}

Wang, Yichen ^{[3
]}

Liu, Tianyuan ^{[2
]}

Zhong, Ce ^{[2
]}

Lao, Yueqiong ^{[2
]}

Zhang, Shaosen ^{[2
]}

Liao, Han ^{[2
]}

Bai, Fan ^{[4
,5
,6
]}

Lin, Dongxin ^{[2
,7
,8
,9
]}

Wu, Chen ^{[2
,7
,8
,10
]}

机构：

[1] Huazhong Univ Sci & Technol, Tongji Med Coll, Sch Publ Hlth, Dept Hlth Toxicol,Key Lab Environm & Hlth, Wuhan 430030, Peoples R China

[2] Chinese Acad Med Sci CAMS & Peking Union Med Coll, Dept Etiol & Carcinogenesis, Natl Canc Ctr, Natl Clin Res Ctr,Canc Hosp, Beijing 100021, Peoples R China

[3] Wellcome Sanger Inst, Canc Ageing & Somat Mutat, Hinxton, England

[4] Peking Univ, Biomed Pioneering Innovat Ctr BIOPIC, Sch Life Sci, Beijing 100871, Peoples R China

[5] Peking Univ, Beijing Adv Innovat Ctr Genom ICG, Beijing 100871, Peoples R China

[6] Peking Univ First Hosp, Ctr Translat Canc Res, Beijing 100034, Peoples R China

[7] Chinese Acad Med Sci & Peking Union Med Coll, Key Lab Canc Genom Biol, Beijing 100021, Peoples R China

[8] Nanjing Med Univ, Collaborat Innovat Ctr Canc Personalized Med, Nanjing 211166, Peoples R China

[9] Sun Yat Sen Univ, Canc Ctr, State Key Lab Oncol South China, Guangzhou 510060, Peoples R China

[10] Chinese Acad Med Sci, CAMS Oxford Inst, Beijing 100006, Peoples R China

来源：

CANCER CELL | 2023年 / 41卷 / 12期

基金：

国家重点研发计划; 中国国家自然科学基金;

关键词：

SQUAMOUS-CELL CARCINOMA; COPY NUMBER; EVOLUTION; INSTABILITY; MUTAGENESIS; SIGNATURES; ALIGNMENT; MUTANTS; GAIN;

D O I：

10.1016/j.ccell.2023.11.003

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Esophageal squamous cell carcinoma (ESCC) develops through a series of increasingly abnormal precancerous lesions. Previous studies have revealed the striking differences between normal esophageal epithelium and ESCC in copy number alterations (CNAs) and mutations in genes driving clonal expansion. However, due to limited data on early precancerous lesions, the timing of these transitions and which among them are prerequisites for malignant transformation remained unclear. Here, we analyze 1,275 micro-biopsies from normal esophagus, early and late precancerous lesions, and esophageal cancers to decipher the genomic alterations at each stage. We show that the frequency of TP53 biallelic inactivation increases dramatically in early precancerous lesion stage while CNAs and APOBEC mutagenesis substantially increase at late stages. TP53 biallelic loss is the prerequisite for the development of CNAs of genes in cell cycle, DNA repair, and apoptosis pathways, suggesting it might be one of the earliest steps initiating malignant transformation.

引用

页码：2038 / 2050.e5

页数：19

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