遗传性非息肉病性结直肠癌相关肿瘤累计危险度分析

目的 了解各遗传性非息肉病性结直肠癌（HNPCC）相关肿瘤在中国HNPCC家族中发病的危险度,探讨中国HNPCC患者的诊断和治疗策略.方法 收集符合Amsterdam标准的HNPCC家族41个,以寿命表法对213例发生各种肿瘤的HNPCC家族成员做相关肿瘤的累计危险度分析.结果 肠外肿瘤中胃癌发生率最高（25例）,其次为子宫内膜癌（11例）.各HNPCC常见肿瘤的累计危险度分别为大肠癌89.5%,胃癌24.5%,子宫内膜癌29.6%（女性）,肝癌8.2%.结论 肠外肿瘤中胃癌、子宫内膜癌及肝癌的累计危险度均较高,忽视胃癌在中国HNPCC诊断中的价值,可能会漏诊部分患者.

Analysis of life time risk of different cancer in patients with hereditary nonpolyposis colorectal cancer

Objectives To determine the magnitude of risk for various cancer types in hereditary nonpolyposis colorectal cancer syndrome. The impacts of cancer risks in diagnosis and treatment strategy were discussed. Methods A detailed pedigree analysis of 41 HNPCC families fulfilling Amsterdam criteria was analyzed. A life-table analysis for the cumulative risks of various cancers was performed on the 213 patients with HNPCC associated tumors. Results Gastric cancer was the most commonly presented (25 cases), followed by endometrial cancer (11 cases). The cumulative life time risks for common cancer types in Chinese HNPCC were: colorectal cancer 89.5 %, gastric cancer 24.5 %, endometrial cancer 29.6 % (female only) and hepatocellular cancer 8.2 %. Conclusions The life time risks of gastric cancer and endometrial cancer were significantly high in Chinese HNPCC patients. The clinical criteria excluding gastric cancer as HNPCC associated cancer for diagnosis might eliminate some Chinese HNPCC families not satisfying the above-mentioned conditions.