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中华临床医师杂志(电子版) ›› 2021, Vol. 15 ›› Issue (01) : 1 -9. doi: 10.3877/cma.j.issn.1674-0785.2021.01.001

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食管鳞癌精准防治基础研究概述
柯杨1,()   
  1. 1. 100142 北京,北京大学肿瘤医院 北京肿瘤医院暨北京市肿瘤防治研究所遗传学研究室 恶性肿瘤发病机制及转化研究教育部重点实验室
  • 收稿日期:2020-10-27 出版日期:2021-01-15
  • 通信作者: 柯杨

Overview of basic research on precision prevention and treatment of esophageal squamous cell carcinoma

Yang Ke1,()   

  1. 1. Peking University Cancer Hospital, Genetics Laboratory, Beijing Cancer Hospital & Beijing Cancer Prevention and Control Institute, The Ministry of Education (MOE) Key Laboratory of Carcinogenesis and Translational Research, Beijing 100142, China
  • Received:2020-10-27 Published:2021-01-15
  • Corresponding author: Yang Ke
引用本文:

柯杨. 食管鳞癌精准防治基础研究概述[J]. 中华临床医师杂志(电子版), 2021, 15(01): 1-9.

Yang Ke. Overview of basic research on precision prevention and treatment of esophageal squamous cell carcinoma[J]. Chinese Journal of Clinicians(Electronic Edition), 2021, 15(01): 1-9.

本文回顾了我国科学家在食管鳞癌病因学、分子机制研究及早诊早治方面的努力和成效,提出:(1)食管鳞癌作为典型复杂因果疾病,保护食管免受各种物理化学损伤至关重要;(2)有必要在各种组学研究基础上,采用高规格前瞻性人群研究设计,整合已有结果开展系统分析,深入挖掘潜在干预靶点;(3)在尚未发现高归因风险致病因素的情况下,大规模筛查需随机对照研究对其效果及卫生经济学价值加以评估,同时需进一步推动现有筛查模式不断向精准化与个体化方向发展。

This paper reviews the efforts and achievements of Chinese scientists in studying the pathogenesis, molecular mechanism, and early diagnosis and treatment of esophageal squamous cell carcinoma (ESCC) based on our work. It is suggested that: (1) ESCC is a typical multifactorial disease, and it is very important to protect the esophagus from various physical and chemical injuries to prevent the development of this malignancy; (2) based on a variety of omics studies, it is necessary to adopt a high-quality prospective population study design, integrate existing results to carry out systematic analysis, and explore potential intervention targets in depth; and (3) in the absence of high attributable risk factors, large-scale screening needs to be evaluated in randomized controlled studies to evaluate its effects and health economic value, and at the same time, existing screening models need to be further improved with regard to precision and individualization.

表1 来自中国人群的ESCC GWAS研究鉴定出的SNP位点信息
作者 年份 期刊 技术方法 病例/对照 易感位点 OR值(95%CI)
Abnet Christian C 2010 Nature Genetics GWAS 2115/3302 10q23(PLCE1 rs2274223) 1.34(1.22~1.48)
Wang Lidong 2010 Nature Genetics GWAS 9053/13 283(GWAS:1077/1733;Validation:7976/11 550) 10q23(PLCE1 rs2274223) 1.43(1.37~1.49)
Wu Chen 2011 Nature Genetics GWAS 8307/8209(GWAS:2031/2044;Validation:6276/6165) 5q11(PDE4D rs10052657) 0.67(0.62~0.73)
21q22(RUNX1 rs2014300) 0.70(0.65~0.75)
6p21(rs10484761) 1.33(1.23~1.45)
10q23(PLCE1 rs2274223) 1.34(1.26~1.42)
12q24(rs11066280) 1.30(1.22~1.38)
12q24(C12orf51 rs2074356) 1.56(1.45~1.68)
12q24(ACAD10 rs11066015) 1.38(1.29~1.48)
Abnet Christian C 2012 Human Molecular Genetics Meta-analysis of two GWAS(Abnet Christian C 2010 and Wang Lidong 2010) 2961/3400(2024/2708;937/692) 2q33(CASP8 rs10931936) 1.27(1.17~1.38)
2q33(ALS2CR12 rs13016963) 1.29(1.19~1.40)
2q33(ALS2CR12 rs9288318) 1.28(1.18~1.39)
2q33(ALS2CR12 rs10201587) 1.29(1.19~1.40)
2q33(TRAK2 rs7578456) 1.27(1.17~1.38)
Wu Chen 2012 Nature Genetics GWAS from Wu Chen(2011) 10123/10664(GWAS:2031/2044;Validation 8092/8620) 2q22(IGFBP2 rs9288520) 1.09(1.02~1.16)
13q33(SLC10A2 rs17450420) 1.34(1.16~1.54)
3q27(ST6GAL1 rs2239612) 1.21(1.15~1.27)
22q12(XBP1 rs2239815) 1.18(1.13~1.23)
22q12(CHEK2 rs4822983) 1.27(1.21~1.34)
22q12(CHEK2 rs1033667) 1.25(1.19~1.30)
16q12.1(HEATR3 rs4785204) 1.24(1.18~1.29)
16q12.1(HEATR3 rs7206735) 1.20(1.15~1.26)
4q23(ADH1B rs1042026) 1.35(1.29~1.41)
Wu Chen 2014 Nature Genetics Joint analysis of three GWAS(Abnet Christian C 2010,Wang Lidong 2010 and Wu Chen 2011) 14991/15845(GWAS:5337/5787;Validation:9654/10058) 5q31.2(TMEM173 rs7447927) 0.85(0.82~0.88)
17p13.1(ATP1B2 rs1642764) 0.88(0.85~0.91)
6p21.32(HLA class II rs35597309) 1.19(1.12~1.27)
表2 基于全基因组测序和全外显子测序开展的食管鳞状细胞癌研究汇总
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