遗传性非息肉病性大肠癌12个家系42例临床报告

Clinical Report on 42 Cases with Hereditary Nonpolyposis Colorectal Carcinoma in 12 Family Lines

为掌握遗传性非息肉病性大肠癌（HNPCC）的临床特点及诊治经验，对12个家系42例遗传性非息肉病性大肠癌的诊断、治疗、随访结果、肿瘤发病部位、病理诊断等进行回顾性分析。结果显示，12个家系中共42例患大肠癌，平均发病年龄42．2（20-71）岁，42例共有大肠癌60枚，其中83．3％为结肠癌，66．7％位于脾曲近侧结肠，18．3％有多原发大肠癌。结果表明，HNPCC是一种常染色体显性遗传病，具有发病年龄早，好发近侧结肠，易患多原发癌的特点，及早识别与随访对病人预后有重要意义。

In order to explore the clinical feature and the diagnosis ＆ treatment of hereditary nonpolyposis colorectal carcinoma（ HNPCC）, the clinical data of the diagnosis, treatment, results of follow-up, pathogenic location,pathological diagnosis of HNPCC of 42 cases in 12 family lines were retrospectively analized. As results,the mean age of HNPCC onset was 42.2（20-71）years old,and there were 60 colorectal carcinomata in all the 42 cases with HNPCC,of which colonic carcinoma was 83.3% ,66.7% of HNPCC was localized at splenic flexure of proximal colon, and 18.3% was multiple primary carcinomata. These suggest that HNPCC is an autosomal dominant hereditary disease,which has the clinical feature of earlier age of onset, predilection for the proximal colon and preference for being multiple ＆ primary. It is concluded that early diagnosis and follow-up are of important significance.