中国人遗传性非息肉病性结直肠癌常见临床表型特征与肠外肿瘤谱分析  

Common features of clinical phenotype and extracolonic malignant tumor spectrum of hereditary nonpolyposis colorectal cancer in Chinese population

作　　者：张渊智[1] 张志芳 张帆[1] 任燕敏[1] 高慧芳[1] 张宏[3] 冯燕[1] 高燕云[1] 陈学平[1] 

机构地区：[1]昆明市第一人民医院消化科,云南昆明650011 [2]河南省职工医学院附属医院麻醉科 [3]解放军第153医院

出　　处：《胃肠病学和肝病学杂志》2011年第6期513-518,共6页Chinese Journal of Gastroenterology and Hepatology

摘　　要：目的系统地探讨中国人遗传性非息肉病性结直肠癌(HNPCC)常见临床表型特点及肠外肿瘤谱。方法在自行收集的HNPCC家系基础上,采用meta分析方法,遴选近年公开发表的有关中国人HNPCC综合征临床表型的文献,扩大样本含量,共收集142个符合Amsterdam标准Ⅰ或Amsterdam标准Ⅱ的HNPCC家系,其中57个家系具有完整资料。结果在符合Amsterdam标准Ⅰ的家系中,发生结直肠癌患者占82.4%(215/261),发生肠外恶性肿瘤的患者占25.3%(66/261),仅患肠外恶性肿瘤的患者占17.6%(46/261),发生多原发恶性肿瘤的患者占19.2%(50/261),首发恶性肿瘤为结直肠癌者占80.8%(211/261),其中位于右半结肠者占66.8%(141/211);在结直肠癌患者中,多原发结直肠癌占19.1%(41/215),同时发生结直肠癌与肠外恶性肿瘤者占9.3%(20/215);结直肠外肿瘤谱涉及23种肿瘤,其中胃癌、子宫内膜癌、肝癌、卵巢癌、食管癌、胰腺癌、乳腺癌、甲状腺癌、肺癌、小肠恶性肿瘤最为常见。Amsterdam标准Ⅱ家系中有相似的结果。结论中国人HNPCC常见临床表型特征与西方国家相似;中国人肠外肿瘤谱较广,其中胃癌、子宫内膜癌、卵巢癌、肝癌、食管癌等最为常见。Objective To describe systematically the common features of clinical phenotype and extracolonic malignant tumor spectrum of hereditary nonpolyposis colorectal cancer （HNPCC） in Chinese population. Methods In order to get a bigger sample, HNPCC families were from two sources. One was continuously investigated in recent years by ourselves. And the other was the published Chinese and foreign literatures related to Chinese HNPCC syndrome. There were 142 families in this study, who fufilled Amsterdam criteria （AC） Ⅰ and/or Ⅱ. Results In AC I families, colorectal cancer （CRC） patiens accounted for 82.4% （215/261） , 25.3% （66/261） patients had extracolonic malignant tumors, 17.6% （46/261） patients had only extracolonic malignant tumors. Patients with mutiple primary malignant tumors accounted for 19.2% （50/261）. There were 80.8 % （211/261） patients whose first malignant tumor was CRC. Among them, 66. 8% （ 141/211 ） patients were right-sided colorectal cancer. In patients with CRC, 19. 1% （41/215） patients had multiple primary colorectal cancer, and 9.3% （20/215） patients had extracolonic malignant tumor. Extracolonic malignant tumors included 23 sites. The most common were in turn gastric cancer, endometrial cancer, hepatocarcinoma, ovary cancer, esophageal cancer, pancreatic cancer, breast cancer, thyroid cancer, lung cancer and small intestinal cancer. The same results were found in AC Ⅱ. Conclusion The common features of clinical phenotype in Chinese HNPCC families are similar to those of European and American. The spectrum of extracolonic malignant tumors is involved in many sites, and the most frequent is gastric cancer, then to endometrial cancer, hepatocarcinoma, ovary cancer and esophageal cancer.

关 键 词：遗传性非息肉病性结直肠癌 中国人 表型 肠外肿瘤 

分 类 号：R735.3[医药卫生—肿瘤]