遗传性非息肉病性大肠癌18个家系64例分析

Analysis on 64 Cases of Hereditary Nonpolyposis Colorectal Carcinoma in 18 Family Lines

目的：探讨遗传性非息肉病性大肠癌的临床特点、诊治及预后。方法：对18个家系64例遗传性非息肉病性大肠癌的诊断、治疗、随访、发病部位、病理诊断等进行回顾性分析。结果：18个家系64例大肠癌,平均发病年龄41.8（20-71）岁,共有大肠癌85处,其中85.9%为结肠癌,72.9%位于脾曲近侧结肠,21.9%有多原发大肠癌。结论：遗传性非息肉病性大肠癌是一种常染色体显性遗传病,具有垂直传播特征,发病年龄早,好发近侧结肠,易患多原发癌。及早识别与随访对病人预后有重要意义,MMR基因突变检测具有较好的科学性和使用前景。

Objective To explore the clinical feature, prognosis, diagnosis and treatment of hereditary nonpolyposis colorectal carcinoma （HNPCC）. Methods The clinical data of the diagnosis, treatment, results of follow-up, pathogenic location and pathological diagnosis of HNPCC of 64 cases in 18 family lines were retrospectively analyzed. Results The mean age of HNPCC onset was 41.8 （20-71） years old, and there were 85 colorectal cancers in all the 64 cases of HNPCC, of which colonic carcinoma was 85.9%; 72.9% of HNPCC was located at the splenic flexure of proximal colon, and 17.6% was multiple primary carcinoma. Conclusion HNPCC is an autosomal dominant inherited disease, which has the clinical features of vertical transmission, earlier age of onset, predilection for the proximal colon and preference for being multiple primary carcinoma. Early diagnosis and follow-up are of significance. Detection of gene mutation on mismatch repair （MMR） owns preferable science-based and application prospects.