遗传性非息肉病性大肠癌临床表型分析

目的 探讨我国遗传性非息肉病性大肠癌（HNPCC）患者的临床表型,为临床辨认HNPCC家系提供依据。方法 选择符合阿姆期特丹Ⅱ和日本的HNPCC标准的34个HNPCC家系为研究对象。研究发病的一般规律：（1）确诊时的年龄和性别;（2）绘出家系图;（3）肿瘤发生的部位（包括肠外癌）;（4）同时多原发结肠癌;（5）异时多原发结肠癌;（6）临床表现。结果 （1）34个家系中,18岁以上的家族成员共612人,确诊HNPCC的患者140例,女性47例,男性93例。（2）34个家系均为常染色体显性遗传。（3）确诊时的中位年龄为45．3岁,50岁以前发病者占62．1％,60岁以前发病者占87．1％;（4）154个原发癌灶中,肠外癌灶31个（20．1％）,其中胃癌占肠外癌的41．9％（13／31）,大肠癌灶123个（79．9％）。116例大肠癌患者中,右半结肠癌占66．4％（77／116）,左半结肠癌占33．6％（39／116）。（5）同时多原发癌5例,其中2例为3次多原发癌,3例为2次多原发癌;异时多原发癌6例（含肠外癌）。结论 本组HNPCC的临床特点为（1）发病年龄比西方患者更年轻;（2）右半结肠癌的比例高;（3）大肠癌的垂直传递特征突出;（4）肠外癌以胃癌比例较大;（5）同时原发癌和异时原发癌较多。

Clinical phenotypes of hereditary nonpolyposis colorectal cancer in Chinese population

OBJECTIVE: To investigate the clinical phenotypes of hereditary nonpolyposis colorectal cancer (HNPCC) in Chinese population. METHODS: Data of 34 HNPCC families diagnosed according to Armsterdam II Criteria and Japan Criteria, including age of diagnosis, site of cancer inclusive of abenteric cancer, history of synchronous and/or metachronous colorectal cancer, histopathology of tumor, clinical manifestations, and genealogy were collected and analyzed. RESULTS: Out of the 612 members aged over 18 of these 34 families 140 persons were diagnosed as HNPCC patients with 154 cancer foci, 93 males and 47 females. The median age of confirmed diagnosis of HNPCC was 45.3 years. 62.1% of them developed the cancer before the age of 50 and 87.1% of them developed the cancer before the age of 60. Out of the 154 primary cancer foci, 31 were extracolonic (20.1%), including synchronous and/or metachronous cancers, with gastric cancer accounting for 41.9% (13/31), and 123 were colonic cancers (79.9%). Out of the 116 cases of colorectal cancer, there were 77 cases of proximal colon cancer (66.4%) and 39 cases of distal colon cancer (33.7%). There were 11 cases of synchronous and/or metachronous cancer (7.86%). The main clinical manifestations included hematochezia, anemia, abdominal mass, and abdominal pain. CONCLUSION: In comparison with the facts among Westerners, HNPCC occurred earlier; the proportions of proximal colon cancer, extracolonic cancer, and synchronous and/or metachronous cancers are larger; and gastric cancer accounts for a greater percentage among Chinese.