遗传性结直肠癌临床诊治和家系管理中国专家共识  

Consensus on clinical diagnosis, treatment and pedigree management of hereditary colorectal cancer in China

机构地区：[1]中国抗癌协会大肠癌专业委员会遗传学组

出　　处：《中华肿瘤杂志》2018年第1期64-77,共14页Chinese Journal of Oncology

基　　金：国家重点研发计划-NCRCC（2017YFC0908200）

摘　　要：遗传性结直肠癌根据有无息肉大致可分为2类，第1类是以息肉病为特征，包括家族性腺瘤性息肉病（FAP）等；第2类为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等3部分，分别针对各个遗传综合征的定义、临床病理特征、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。希望通过专家共识的制订，推动全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，最终有效提高中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 divded 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 coloreetal cancer, which is represented by Lynch syndrome. ＂Consensus on clinical diagnosis, treatment and pedigree management of hereditary colorectal cancer in China＂ developed by the Genetics Group of the Committee of Colorectal Cancer, Chinese Anti-cancer Association, is composed of three sections, including hereditary nonpolyposis syndrome, polyposis syndrome as well as genetic evaluation of hereditary coloreetal cancer. The consensus aims to provide recommendations on management of the respective hereditaPy syndromes in terms of definition, clinical and pathological features, diagnostic standards, treatment, and follow-ups. In addition to describing diagnostic and treatment strategies, prophylactic treatment as well as genetic screening and pedigree monitoring is highly recommended. Through the establishment of this expert consensus, we hope to promote better understanding of hereditary eoloreetal cancer for clinicians and encourage standardized treatment through multidisciplinery approaches, eventually improving clinical treatment and pedigree management of hereditary colorectal cancer in China.

关 键 词：遗传性结直肠癌 LYNCH综合征 家族性腺瘤性息肉病 基因检测 

分 类 号：R735.3[医药卫生—肿瘤]