遗传性非息肉病性大肠癌家系的临床特征分析  

Demographic and clinical features of hereditary nonpolyposis colorectal cancer

作　　者：李晓霞[1] 郭杰[2] 马思平[2] 张兢茹[2] 林涛[2] 喻卫红[2] 徐兰[2] 师影[2] 王舒宝[1] 

机构地区：[1]中国医科大学第一附属医院肿瘤科,沈阳110001 [2]辽宁省肿瘤医院大肠外科

出　　处：《中华普通外科杂志》2005年第3期146-148,共3页Chinese Journal of General Surgery

基　　金：辽宁省自然科学基金项目 (2 0 0 2 2 0 48)

摘　　要：目的　探讨遗传性非息肉病性大肠癌(HNPCC)家系的临床特征。方法　对符合Amsterdam标准的4 5个HNPCC家系共2 6 4个患者绘出其家系图,确定年龄、性别、肿瘤部位、同时和异时癌等。结果　4 5个家系中2 6 4例患者,男14 2例,女12 2例,均为常染色体显性遗传;确诊时的中位年龄为5 0岁。30 5个原发癌灶中,大肠癌灶180个,大肠多发癌2 8例,肠外癌12 5个。结论　HNPCC垂直传递特征突出,肠外癌以肺癌、子宫内膜癌、胃癌最多见,同时多原发癌和异时多原发癌比较多见。Objective To investigate demographic and clinical features of hereditary nonpolyposis colorectal cancer (HNPCC) in Chinese patients.Methods Data of 45 HNPCC pedigrees diagnosed in accordance with Armsterdam I and Armsterdam Ⅱ Criteria were collected and analyzed.Results In 264 patients, 305 malignant neoplasms were found.The median age of confirmed diagnosis of HNPCC was 50 years.Out of the 305 primary cancer foci, 180 were colonic cancers (59%), 125 were extracolonic cancer (41%) with carcinoma of the lung, endometrium and stomach accounting for 24.0% (30/125), 14.4% (18/125), and 12.0% (15/125) respectively.Conclusion HNPCC is characterized by early vertical transmission, with extracolonic cancer, and synchronous multiple and/or metachronous multiple primary cancers as common clinical features. Carcinoma of the lung, endometrium and stomach are among the most common extracolonic malignancies.

关 键 词：遗传性非息肉病性大肠癌 临床特征分析 常染色体显性遗传 HNPCC 同时多原发癌 大肠多发癌 子宫内膜癌 肿瘤部位 中位年龄 垂直传递 家系图 异时癌 50岁 患者 癌灶 肠外 

分 类 号：R735.3[医药卫生—肿瘤]