中国人遗传性非息肉病性结直肠癌家系的临床表型分析

Clinical phenotype of Chinese hereditary nonpolyposis colorectal cancer (HNPCC) families

目的分析中国人遗传性非息肉病性结直肠癌(HNPCC)家系的临床特征,并评价中国人HNPCC家系标准的临床应用价值。方法收集符合中国人HNPCC家系标准的家系26个,与509例散发性大肠癌比较,分析其临床特点。26个家系中,8个同时符合Amsterdam标准,分入A组;另18个不符合Amsterdam标准,仅符合中国人HNPCC家系标准,分入B组,分析比较两组间临床特点。结果26个家系中,大肠癌患者77例,发生同时或异时大肠癌7例(9.1%)。共发生大肠癌癌灶86个,部位明确的71个癌灶中,28个(39.4%)发生在近端结肠,51例(71.8%)患者发病年龄<50岁。共发生肠外恶性肿瘤24个,其中胃癌9个(37.5%),是最常见的类型。与散发性大肠癌相比,HNPCC家系具有平均发病年龄轻(P=0.000)、<50岁者多见(P=0.000)、多原发癌比例高(P=0.015)等特征。与B组相比,A组平均每个家系发生大肠癌的例数明显多于B组(4.5∶2.3,P=0.022);而在平均发病年龄、肿瘤发生部位、多原发大肠癌发生情况、肠外恶性肿瘤谱等方面差异均无统计学意义。结论(1)中国人HNPCC具有发病年龄轻、多原发大肠癌发生率高及肠外恶性肿瘤以胃癌多见的特点。(2)符合中国人HNPCC家系标准的家系与符合Amsterdam标准的家系具有相似的临床特征,而中国人HNPCC家系标准更适用于小型家系的诊断,同时体现了中国人的肿瘤谱特征。

Objective To characterize the clinical features of Chinese hereditary nonpolyposis colorectal cancer （HNPCC） families and to evaluate the value of Chinese HNPCC criteria. Methods Twenty-six families were involved in this study. Eight families fulfilled both the Amsterdam criteria and the Chinese HNPCC criteria （named group A）, while the other 18 families fulfilled the Chinese HNPCC criteria only （named group B ）. The clinical features of these HNPCC families were compared with those of 509 sporadic eoloreetal cancers （CRC） cases. Features of families in group A and in group B were also compared and analyzed. Results A total of 86 eolorectal carcinomas developed in 77 patients in these 26 families. Synchronous or metaehronous colorectal cancers developed in seven （9.1% ） patients. Thirty-nine percent of coloreetal carcinomas were developed in the proximal colon. Fifty-one out of 71 patients （71.8%） were diagnosed before the age of 50. A total of 24 extracolonic malignancies were identified in these families. Gastric carcinoma was the most common type of extracolonic malignancy （ 37.5% ）, Compared with sporadic CRCs, HNPCC patients were significantly younger at the age of diagnosis, namely, higher proportion of patients less than 50 years old, and more frequent development of multiple eolorectal cancers. Except for the average number of colorectal carcinomas developed per family （4.5 ： 2.3, P = 0. 022） , there was no significant difference between group A and B regarding the age of diagnosis, the location of colorectal cancer, the development of multiple colorectal cancers and the distribution of extra-colonic malignancies. Conclusion Chinese HNPCC families have certain specific clinico-pathological features. Families in accord with the Chinese HNPCC criteria have similar clinical features as those with the Amsterdam criteria. The Chinese criteria are, however, more suitable for the diagnosis of patients from small families.