Shu Zheng, Yanqin Huang, Ying Yuan
Cancer Institute, Second Affiliated Hospital, Zhejiang University, Hangzhou, PR China.
Hered Cancer Clin Pract. 2005 Nov 15;3(4):155-64. doi: 10.1186/1897-4287-3-4-155.
The purpose of this article is to review basic research as well as clinical studies on Chinese hereditary colorectal cancer. Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) accounts for 2.2% of all colorectal cancer, and Chinese criteria for suspected HNPCC have been developed. Germline mutations as well as large genomic rearrangements of mismatch repair (MMR) genes are responsible for this syndrome. Gastric cancer is the second most common cancer in Chinese HNPCC patients. Contrary to sporadic colorectal cancer in the Chinese population, HNPCC does not typically present with rectal cancer. Incidence of familial adenomatous polyposis (FAP) in China is approximately 1.5/100,000. Polyps in Chinese FAP patients can emerge as early as 16 months old, but malignant transformation usually occurs in the third and fourth decade. Total resection of the colon and rectum is necessary in FAP patients. For unresectable duodenal polyps, chemopreventive agents may be used.
本文旨在综述关于中国遗传性结直肠癌的基础研究及临床研究。遗传性非息肉病性结直肠癌(HNPCC,林奇综合征)占所有结直肠癌的2.2%,中国已制定疑似HNPCC的诊断标准。错配修复(MMR)基因的胚系突变以及大片段基因组重排是导致该综合征的原因。胃癌是中国HNPCC患者中第二常见的癌症。与中国人群散发性结直肠癌不同,HNPCC通常不表现为直肠癌。中国家族性腺瘤性息肉病(FAP)的发病率约为1.5/10万。中国FAP患者的息肉最早可在16个月时出现,但恶变通常发生在第三和第四个十年。FAP患者需要行结肠和直肠全切术。对于无法切除的十二指肠息肉,可使用化学预防药物。