遗传性非息肉病性结直肠癌家系分析

Genealogical Analysis of the Hereditary Non-polyposis Colorectal Cancer

目的 探讨遗传性非息肉病性结直肠癌在我国的发病遗传规律以及流行病学特点。方法 自 1999年 1月至 2 0 0 2年 12月 ,对天津市人民医院 (原名天津市滨江医院 )收治的 2 92例结直肠癌患者进行家系调查 ,从中筛选出符合以下标准的遗传性非息肉病性结直肠癌家系 3 8个 ,对家系的肿瘤发生率、肿瘤谱和临床特点等进行了分析和总结。诊断标准使用Amsterdam标准Ⅰ、Amsterdam标准Ⅱ (ICG HNPCC)和日本HNPCC诊断标准。结果 3 8个遗传性非息肉病性结直肠癌家系中共有 14 5例癌症患者 ,其中男性 76例 ,女性 69例 ,男女比例为 1.1∶1。原发性结直肠癌平均诊断年龄为 ( 5 5 .73± 15 .88)岁 ,在所有 99例结直肠癌中 ,左半结肠癌及直肠癌 2 9例 ,占 2 9.3 % ;右半结肠癌 70例 ,占 70 .7% ,右半结肠癌占有绝对的优势 ;异时性多发性原发结直肠癌患者占大肠癌患者的 13 .1% ( 13 /99) ;HNPCC相关肿瘤共 46例其发生率由高到低前三位是 :子宫内膜癌 9例 ( 19.6% )、乳腺癌 7例 ( 15 .2 % )、肺癌、胃癌各 6例 ( 13 .0 % ) ;在男女性共患癌中 ,除胰腺癌、纵隔癌外 ,男性发生率均高于女性 ;第一代、第二代以及第三代患者的平均诊断年龄有逐渐年轻化的趋势 ,并具有统计学意义。结论 我国遗传性非息肉病性结直肠癌很可能?

Objective To investigate the genetic law and epidemiological characteristics of Hereditary Non-Polyposis Colorectal Cancer(HNPCC) in Chinese.Methods Genealogical investigation was performed in 292 patients with colon and rectal cancer who attended between January,1999 and December,2002 in Tianjin Union Medicine Center.Clinical diagnosis of hereditary non-polyposis colorectal cancer was established in 38 families according to the Amsterdam criteria Ⅰ,Amsterdam criteria Ⅱ and Japan criteria.The tumor incidence,tumoral spectrum and the clinical manifestations were analyzed in the 38 families.Results There were 145 cases of tumor in these families,including 76 males and 69 females.The male/female ratio was 1.1∶1.The diagnosis of colorectal cancer was established at an average age of 55.73±15.88.In all 99 cases of colorectal cancer,there were 29(29.3%) cases of left hemicolon cancer and rectal cancer,70(70.7%) cases of right hemicolon cancer and 13(13.1%) cases of Non-synchronous multiple original colorectal cancer.Right hemicolon cancer was the most common type.The 46 cases with HNPCC-related neoplasm included 9(19.6%) cases of endometrial cancer,7((15.2%)) cases of breast cancer,6(13.0%) cases of stomach cancer and 6(13.0%) cases of lung cancer.In the tumor occurred in both male and female,the incidence in male was higher than that in female,except for pancreas cancer and mediastinum cancer.The diagnosis was made at an earlier age from generation to generation with a statistical significance.Conclusion The HNPCC in Chinese may have its own genetic characteristics.A proper diagnostic method should be made for Chinese people.