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中华结直肠疾病电子杂志 ›› 2017, Vol. 06 ›› Issue (03) : 243 -248. doi: 10.3877/cma.j.issn.2095-3224.2017.03.015

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综述

常见遗传性大肠癌的外科治疗
阿地力·克然木1, 刘方奇1, 徐烨1,()   
  1. 1. 200032 上海,复旦大学附属肿瘤医院大肠外科;复旦大学上海医学院肿瘤学系
  • 收稿日期:2016-09-13 出版日期:2017-06-25
  • 通信作者: 徐烨
  • 基金资助:
    国家自然科学基金面上项目(No.81472620); 上海市卫生系统重要疾病联合公关项目(重大项目)(No.2014ZYJB0101); 上海市"科技创新行动计划"实验动物研究领域科技支撑项目(No.13140902100)

The surgical treatment of common hereditary colorectal cancer

Keranmu Adili1, Fangqi Liu1, Ye Xu1,()   

  1. 1. Department of Colorectal Surgery, Fudan University Shanghai Cancer Center & Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
  • Received:2016-09-13 Published:2017-06-25
  • Corresponding author: Ye Xu
  • About author:
    Corresponding author: Xu Ye, Emai:
引用本文:

阿地力·克然木, 刘方奇, 徐烨. 常见遗传性大肠癌的外科治疗[J/OL]. 中华结直肠疾病电子杂志, 2017, 06(03): 243-248.

Keranmu Adili, Fangqi Liu, Ye Xu. The surgical treatment of common hereditary colorectal cancer[J/OL]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2017, 06(03): 243-248.

大肠癌在我国的发病率和死亡率均呈逐年上升趋势,其中5~6%为遗传性大肠癌1。遗传性大肠癌具有遗传性、家族聚集性、高发性、多发性和肿瘤发生的多器官性等特点,对人类的生存构成极大的威胁。家族中突变基因携带者患相关肿瘤风险显著高于普通人群,早期筛查及干预可降低其患癌风险。本文结合常见遗传性大肠癌(Lynch综合征和家族性腺瘤性息肉病)的临床及遗传学特征、基因检测等内容阐述其外科治疗,以期为医务人员治疗的选择提供依据,采取精准的干预及筛查措施,降低患者患癌风险。

The incidence and mortality of colorectal cancer in China are increasing year by year, of which 5% to 6% of are hereditary colorectal cancer. Hereditary colorectal cancer has the characteristics of hereditary, familial aggregation, high incidence, multiple incidence and multiple organ tumors and so on, which threaten our life and lead to death. Family of mutation carriers are at significantly greater risk of developing colorectal cancer than the general population. Early screening and intervention can reduce the risk of cancer. Here we summarize the clinical and genetic characteristics of hereditary colorectal cancer syndrome (Lynch Syndrome and Familial Adenomatous Polyposis), and overview the surgical treatment, genetic testing and screening so as to provide the basis for surgeons choosing the medical methods to take accurate intervention and screening measures and reduce the risk of cancer.

表1 CFAP和AFAP的临床特征区别2, 10,11,12
表2 FAP各种术式的优缺点对比
表3 直肠腺瘤数与IRA术后直肠癌变率19
表4 突变表型与癌变率32
表5 不同基因突变型及临床表型2, 33,34
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