遗传性非息肉病性结直肠癌的临床特征与诊断原则

Characteristics of hereditary nonpolyposis colorectal cancer among Chinese patients

目的 探讨遗传性非息肉病性结直肠癌 (HNPCC)的临床特点和诊断。方法 收集 2 2个符合Amsterdam标准的HNPCC家族 ,分析其临床特点。结果 本组符合Amsterdam标准的HNPCC发病率为 2 .6 % ,2 2个家族有恶性肿瘤患者 10 1例 ,结直肠癌患者 84例 ,发生第一个结直肠癌的平均年龄为 45 .7岁 ,位于脾曲近侧结肠和直肠的分别占 5 8.3%和 2 3.8%。 2 3.8%患者发生同时或异时多原发结直肠癌。 2 0例患者发生肠外肿瘤 ,以胃癌居多。结论 HNPCC具有发病年龄早、近侧结肠多见、同时和异时多原发结直肠癌发生率高的特点 ,诊断治疗及随访应有别于散发性结直肠癌。本组肠外肿瘤以胃癌发生率高 ,与国外报道不同。建立中国人的HNPCC诊断标准是必要的。

Objective To study the clinical characteristics of hereditary nonpolyposis colorectal cancer (HNPCC) in Chinese patients. Methods A series of 101 patients with colorectal cancers (CRC) and HNPCC associated tumors from 22 families fulfilling Amsterdam criteria were analyzed. Results Eighty-four patients were found to have CRC. Mean age at diagnosis of first CRC was 45.7 years. 58.3% and 23.8% of the first CRC were located proximal to the spleen flexure and in rectum respectively. 23.8% of patients had synchronous and metachronous CRC. Twenty patients had extracolonic tumors, among which gastric cancer was the most common tumor type in our series. Conclusions The frequency of HNPCC was 2.6% in this series of patients. It is characterized by early onset with a propensity to involve the proximal colon, and high frequency of multiplicity. Gastric cancer seems more frequent in Chinese patients, which is different from American and European reports. So it is necessary to set up criteria for diagnosis of HNPCC in Chinese.