遗传性非息肉病性大肠癌2家系报告及文献复习.docVIP

遗传性非息肉病性大肠癌2家系报告及文献复习 【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2个HNPCC家系共12例患者进行病例回顾及家系调查。结果 2个家系共有12例HNPCC患者，男3例，女9例，年龄31～70岁，中位发病年龄为41岁，其中多原发癌患者4例，占33%，肠外肿瘤以子宫内膜癌多见。结论 HNPCC多代垂直传递特征突出，多原发癌多见，应对HNPCC患者及家系成员进行严密监测随访，以便达到早期诊断、早期治疗、改善预后的目的。 【关键词】 遗传性非息肉病性大肠癌 家系分析 多原发癌 Abstract: Objective To investigate the clinical features of hereditary non-polyposis colorectal cancer (HNPCC). Methods 12 diagnosed patients of 2 HNPCC pedigrees were collected and followed up. Results The 12 patients, 3 males and 9 females, were confirmed to be cases of HNPCC at the mean age of 41 (from 31 to 70). In