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目的:建立HNPCC家系登记档案,以便收集、归类遗传性大肠癌临床表型和人口统计学资料,为寻找大肠癌的易感基因奠定基础。 方法:选择符合阿姆斯特丹Ⅱ标准的13个HNPCC家系为研究对象。观察发病的一般规律:①确诊时的年龄,性别;②肿瘤发生的部位(包括肠外癌);③同时多原发结肠癌;④异时多原发结肠癌;⑤临床表现。 结果:①13个家系中,18岁以上的家族成员共248人,确诊HNPCC的患者64例。②13个家系均为常染色体显性遗传,64例患者中,女性23例,男性41例。③确诊的中位年龄为41岁,50岁以前发病者为68.75％,60岁以前的发病率达90.63％。④72个原发癌灶中,肠外癌灶15个(20.83％);大肠癌灶57个(79.16％)。大肠癌中右半结肠癌占66.67％(38/57),左半结肠癌为33.33％(19/57)。⑤同时多原发癌4例,其中2例为3次多原发癌,2例为2次多原发癌;异时多原发癌1例。 结论:HNPCC的临床特点为:发病年龄比西方患者年轻;右半结肠癌的比例高;大肠癌的垂直传递特征突出;肠外癌以胃癌比例较大;同时原发癌和异时原发癌较多,对患者及其家系成员进行长期监护和随诊将可早期发现大肠癌,并可经过于预治疗,降低家系成员的大肠癌发病率。
Objective: To establish the HNPCC pedigree registration file in order to collect and classify the clinical phenotype and demographic data of hereditary colorectal cancer and lay a foundation for finding susceptibility genes of colorectal cancer. Methods: Thirteen HNPCC pedigrees that meet the criteria of Amsterdam Ⅱ were selected as the study subjects. Observe the general law of onset: ① the age and sex at diagnosis; ② tumor site (including extraintestinal cancer); ③ multiple primary colon cancer; ④ heterogenous multiple primary colon cancer; ⑤ clinical manifestations. Results: ①There were 248 family members over the age of 18 in 13 pedigrees, and 64 patients were diagnosed with HNPCC. ②13 families were autosomal dominant inheritance, 64 patients, 23 females and 41 males. ③ The median age at diagnosis was 41 years old, with onset of 68.75% before age 50 and 90.63% before age 60 years. Among the 72 primary foci, there were 15 (20.83%) extraintestinal foci and 57 (79.16%) colorectal foci. Colorectal cancer in the right colon cancer accounted for 66.67% (38/57), left colon cancer was 33.33% (19/57). ⑤ at the same time more than 4 cases of primary cancer, including 2 cases of more than 3 primary cancer, 2 cases of multiple primary cancer; heterogenous multiple primary cancer in 1 case. Conclusions: The clinical features of HNPCC are as follows: the age of onset is younger than that of western patients; the proportion of right colon cancer is high; the characteristics of vertical transmission of colorectal cancer are prominent; the proportion of gastric cancer is higher in parenteral cancer; More, patients and their family members for long-term custody and follow-up will be early detection of colorectal cancer, and after pre-treatment, to reduce the incidence of colorectal cancer in family members.