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目的 :探讨中国人遗传性非息肉病性结直肠癌 (HNPCC)相关肿瘤谱和累计发病风险 ,为制定 HNPCC诊治方案提供依据。方法 :随访 31个 HNPCC家系中 1 6 7例肿瘤患者 ,以 Kaplan- Meier生存曲线法估计各种肿瘤发生比例和累计发病风险。 结果 :1 6 7例 HNPCC相关肿瘤患者的首发肿瘤中 ,结直肠癌 1 35例 (80 .8% ) ,胃癌 1 0例 (6 .0 % ) ,子宫内膜癌 8例(4 .8% ) ,卵巢癌 3例 (1 .8% ) ,膀胱癌、乳腺癌、肺癌和脑胶质瘤各 2例 (分别占 1 .2 % ) ,肝癌、胰腺癌和胆囊癌各 1例 (分别占0 .6 % )。70岁时 ,大肠癌发生累计发病风险为 93.3% ,肠外肿瘤发生累计发病风险为 5 6 .1 %。 结论 :中国人 HNPCC肿瘤谱中 ,胃癌发生率较高 ;4 0～ 6 0岁大肠癌发生风险最大 ,5 0岁后肠外肿瘤发生风险明显增加
Objective: To investigate the related spectrum and cumulative risk of hereditary nonpolyposis colorectal cancer (HNPCC) in Chinese and to provide basis for developing HNPCC diagnosis and treatment plan. Methods: Totally 167 cancer patients from 31 HNPCC families were followed up, and Kaplan-Meier survival curves were used to estimate the incidence of various tumors and the cumulative risk of the disease. Results: Of the 167 patients with HNPCC-associated tumors, 35 (80.8%) had colorectal cancer, 10 (6.0%) had gastric cancer, 8 had endometrial cancer (4.8% ), Ovarian cancer in 3 cases (1.8%), bladder cancer, breast cancer, lung cancer and glioma in 2 cases (1.2% respectively), liver cancer, pancreatic cancer and gallbladder carcinoma in 1 case 0 .6%). At age 70, the cumulative incidence of colorectal cancer was 93.3%, and the cumulative incidence of extranoplastic tumors was 56.1%. Conclusions: The incidence of gastric cancer is high in Chinese HNPCC tumor spectrum. The incidence of colorectal cancer in 40 ~ 60 years old is the highest, and the incidence of extraintestinal tumor is significantly increased after 50 years of age