遗传性结直肠癌临床诊治和家系管理中国专家共识

The Chinese expert consensus on clinical diagnosis,treatment and pedigree management of hereditary colorectal cancer

遗传性结直肠癌根据有无息肉大致可分为2类:(1)以息肉病为特征,包括家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)等;(2)非息肉病性结直肠癌,Lynch综合征是其中的重要代表。本共识主要分为遗传性非息肉病性综合征、息肉病性综合征以及遗传咨询与基因检测3个部分,分别针对各个遗传综合征的定义、临床和病理特征、诊断标准、治疗策略以及随访监测策略展开阐述和推荐。除了提供相应的诊断和治疗方案,更强调防治结合,注重对家系成员的遗传筛查和监测随访。希望通过本专家共识的制定,推动中国临床工作者对遗传性结直肠癌的认识和多学科参与的规范化诊治,最终有效提高我国遗传性结直肠癌的临床诊治和家系管理水平。

Hereditary colorectal cancer can be divided into two categories based on the presence or absence of polyps. The first category is characterized by the development of polyposis,which includes familial adenomatous polyposis（ FAP）. The second category is nonpolyposis colorectal cancer,with Lynch syndrome as the most typical disease. This consensus is composed of three sections,including hereditary nonpolyposis syndrome,polyposis syndrome and genetic evaluation of hereditary colorectal cancer. The consensus aims to provide management recommendation based on the definition,clinical and pathological features,diagnostic standards,treatment and patient follow-ups of the respective hereditary syndromes. In addition to describing diagnostic and treatment strategies,prophylactic treatment as well as genetic screening and pedigree monitoring is highly emphasized. It is our hope that the establishment of this expert consensus will promote better understanding of hereditary colorectal cancer for clinicians and encourage standardized treatment through multidisciplinery approaches,eventually improving clinical treatment and pedigree management of hereditary colorectal cancer in China.