中国癌症杂志 ›› 2015, Vol. 25 ›› Issue (11): 841-847.doi: 10.3969/j.issn.1007-3969.2015.11.001

• 特约专家述评及综述 • 上一篇    下一篇

中国人遗传性大肠癌综合征的特征及诊疗规范

李晓芬1,袁 瑛1,张苏展2   

  1. 1. 浙江大学医学院附属第二医院肿瘤内科,浙江 杭州310009 ;
    2. 浙江大学医学院附属第二医院肿瘤外科,浙江 杭州310009
  • 出版日期:2015-11-30 发布日期:2016-02-01
  • 通信作者: 张苏展 E-mail:zhangscy@tom.com

Characteristics and clinical management of Chinese hereditary colorectal cancer syndromes

LI Xiaofen1, YUAN Ying1, ZHANG Suzhan2   

  1. 1.Department of Medical Oncology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang, China; 2.Department of
    Surgical Oncology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang, China
  • Published:2015-11-30 Online:2016-02-01
  • Contact: ZHANG Suzhan E-mail: zhangscy@tom.com

摘要: 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。遗传性大肠癌综合征是指一系列可引起遗传性大肠癌的疾病,患者患大肠癌的风险显著高于普通人群,早期筛查及干预可降低患者患癌风险。总结了中国人遗传性大肠癌综合征(如Lynch综合征、家族性腺瘤性息肉病和Peutz-Jeghers综合征等)的临床及遗传学特征,并概述了国内外遗传性大肠癌综合征的诊疗、监测规范,以期加深人们对这些疾病的认识,帮助医务人员早期、准确诊断,及时采取干预及筛查措施。

关键词: 遗传性大肠癌综合征, 研究进展, 中国

Abstract: Both the incidence and mortality of colorectal cancer in China are increasing year by year. Hereditary colorectal cancer accounts for about 5%-6% of all the colorectal cancer cases, which is caused by hereditary colorectal cancer syndromes. The risk of colorectal cancer in hereditary colorectal cancer syndrome patients is significantly higher than that in general population. Fortunately, early screening and management can largely reduce cancer risk in these patients. Here, we summarize clinical and genetic features of Chinese hereditary colorectal cancer syndromes including Lynch syndrome, familial adenomatous polyposis, and Peutz-Jeghers syndrome, and review the guidelines for diagnosis and treatment in China and abroad. This paper may help people better understand hereditary colorectal cancer syndromes and facilitate accurate diagnosis and early treatment.

Key words: Hereditary colorectal cancer syndromes, Research progress, China