摘要
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 选择符合阿姆斯特丹Ⅱ和日本的HNPCC标准的 34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 6 12人 ,确诊HNPCC的患者 14 0例 ,女性 4 7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 4 5 3岁 ,5 0岁以前发病者占 6 2 1% ,6 0岁以前发病者占87 1%。 (4) 15 4个原发癌灶中 ,肠外癌灶 31个 (2 0 1% ) ,其中胃癌占肠外癌的 4 1 9% (13/31) ,大肠癌灶 12 3个 (79 9% )。 116例大肠癌患者中 ,右半结肠癌占 6 6 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。
Objective To investigste the clinical phenotypes of hereditaty nonpolyposis colorectal cancer (HNPCC) in Chinese population. Methods Data of 34 HNPCC families diagnosed according to Armsterdam ⅡCriteria 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 manifestatioins 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.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2002年第20期1371-1374,共4页
National Medical Journal of China
