摘要
遗传性非息肉性结直肠癌(hereditary nonpolyposis colorectal cancer,HNPCC)又称为lynch综合征(lynch syndrome,LS)是一种常染色体显性遗传性疾病.临床特点是:发病年龄早,多见于右半结肠,伴同时性或异时性肠外恶性肿瘤如子宫内膜癌、胃癌、卵巢癌等,预后比散发性结直肠癌好.对高危家系人群的筛查和干预能有效降低结直肠及肠外恶性肿瘤的发生率和死亡率.本文对HNPCC发病机制、流行病学、临床诊断、筛查、预防和治疗做一综述.
Hereditary nonpolyposis colorectal cancer （HNPCC）, also known as Lynch syndrome, is a class of autosomal dominant genetic disease. Main clinical characteristics of HNPCC include early onset age, more common in the right colon, and concomitant with simultaneous or metachro- nous extracolonic cancers, including endometrial cancer, stomach cancer, and ovarian cancer. However, the prognosis of HNPCC is better than sporadic colorectal cancer. Screening and inter- vention for HNPCC among high-risk pedigree population can effectively reduce the cancer in- cidence and mortality. In this article we will re- view the pathogenesis, epidemiology, diagnosis, screening, prevention and treatment of HNPCC.
出处
《世界华人消化杂志》
CAS
北大核心
2013年第28期2963-2968,共6页
World Chinese Journal of Digestology
基金
国家自然科学基金资助项目
No.81160245~~
关键词
遗传性非息肉性结直肠癌
错配修复基因
微卫星不稳定
诊断筛查
Hereditary nonpolyposis colorectal can-cer
Mismatch repair gene
Microsateliite instability
Diagnosis and screening
