Lynch H T, Smyrk T, Lynch J F
Department of Preventive Medicine, Creighton University School of Medicine, Omaha, NE, USA.
Int J Cancer. 1996 Feb 20;69(1):38-43. doi: 10.1002/(SICI)1097-0215(19960220)69:1<38::AID-IJC9>3.0.CO;2-X.
Hereditary non-polyposis colorectal cancer (HNPCC) predisposes to cancers of the colon, endometrium and several other extra-colonic sites in the absence of premonitory physical stigmata (Muir-Torre syndrome excepted). Discovery of the several DNA mismatch repair genes (hMSH2, hMLH1, hPMS1, hPMS2) holds the potential for determining the cancer destiny of patients, theoretically in utero. Pre-symptomatic DNA testing is now possible in patients from HNPCC families and will be clinically available once inexpensive and simple tests for these germ-line mutations have been effected. Genetic counseling will be mandatory, given the myriad socio-psychological, insurance, and potentially other personal issues which may impact this knowledge. New findings in the pathology of HNPCC, particularly an increased frequency of interval cancers and the likely accelerated rate of the adenoma to cancer sequence, indicate the need for more frequent colonoscopic surveillance with an option for prophylactic subtotal colectomy in germ-line-positive individuals.
遗传性非息肉病性结直肠癌（HNPCC）在没有先兆体征（除穆尔-托雷综合征外）的情况下，易引发结肠癌、子宫内膜癌以及其他几个结肠外部位的癌症。多种DNA错配修复基因（hMSH2、hMLH1、hPMS1、hPMS2）的发现，为从理论上在子宫内确定患者的癌症发病情况提供了可能。现在，对来自HNPCC家族的患者进行症状前DNA检测已成为可能，一旦针对这些种系突变的检测变得廉价且简便，就可用于临床。鉴于可能影响这一认知的众多社会心理、保险及其他潜在个人问题，遗传咨询将成为必要措施。HNPCC病理学的新发现，尤其是间期癌发生率的增加以及腺瘤到癌序列可能加速，表明需要更频繁地进行结肠镜监测，并为种系检测呈阳性的个体提供预防性次全结肠切除术的选择。
