遗传性非息肉病性结肠直肠癌的家系和临床研究

A study on the family history and clinical features of hereditary nonpolyposis colorectal cancer

目的探索遗传性非息肉病性结肠直肠癌 (hereditarynonpolyposiscolorectalcancer,HN PCC)家族成员的发病规律和临床特征 ,寻求简单、有效的筛查和防治方法。方法 调查家族史 ,分析 9例成员的染色体脆性部位 (fragilesite ,FS)和 1 1例患者的临床资料。结果先证者祖父两次婚配 ,祖父母子孙发病接近 1 / 2 ,5例祖父母后代和 5例HNPCC患者FS检出率均为 80 % (4/ 5) ,总检出率为 56 % (5/ 9)。HNPCC患者 1 1人共发生 1 5例次癌 ,Lynch综合症Ⅱ型和多原发癌各 3例 ,占 2 7%(3/ 1 1 ) ,同时性癌 1例 ;病理检查显示 1 1例次均为腺癌。手术后 5年生存率 88% (7/ 8) ,有 3例次已生存 1 0年以上。结论 (1 )该家族呈常染色体显性遗传 ;(2 )及早发现并经腹手术治疗效果好 ;(3)FS的高检出率方便了发病的预测和筛查 。

This study was to investigate the nosopoietic regularity and clinical features of hereditary nonpolyposis colorectal cancer (HNPCC) for the purpose of simple and effective surveillance, and treatment of this disease. MethodsFamily history and clinical data were gained by reviewing the disease histories of HNPCC patients and counseling doctors and the family members. Chromosomal fragile site (FS) analysis was used on chromosome of lymphocyte in peripheral blood. Clinical characters of 11 cases with HNPCC were studied.ResultsThe grandfather of the proband was married to two women. Almost half of grandmother′s descendents developed HNPCC. The detection rate of FS was 80% both among 5 HNPCC patients and among 5 HNPCC descendents. In this family 11 HNPCC patients developed a total 15 different cancers.There were 8 cases of Lynch syndrome I and 3 cases of Lynch syndromeⅡamong 11 HNPCC patients. Three patients (27%) suffered multiple primary cancer. Postoperative 5 year survival rate was 88%(7/8). Conclusions(1) HNPCC is of autosomal dominant inheritance (AD).(2) Early surgery allows a pretty favourable prognosis of the patients.(3)The rather high detection rate of chromosomal FS testing benefits the screening and forecasting the development of HNPCC.