Soravia C, Bapat B, Cohen Z
Department of Surgery, Mount Sinai Hospital, Toronto, Canada.
Schweiz Med Wochenschr. 1997 Apr 19;127(16):682-90.
Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) are two syndromes of colorectal cancer predisposition, inherited in an autosomal dominant fashion. They account for about 1% and 5-7% of all colorectal cancer cases, respectively. FAP is caused by germline mutations of a tumour suppressor gene, the adenomatous polyposis coli (APC) gene, whereas HNPCC results from genetic alterations of the DNA mismatch repair genes. Clinical manifestations in FAP include colonic as well as extracolonic sites (duodenum, eye, dental, nervous or connective tissues). In FAP, prophylactic colectomy is required in all affected patients and regular endoscopic check-up of the upper gastrointestinal tract is necessary to detect malignant transformation of duodenal polyps; medical management of complex desmoid tumours is preferred rather than surgery. In HNPCC, there are extracolonic associated endometrial, gastric, small bowel or brain carcinomas. At present time, for HNPCC patients, only preventive measures such as regular colonoscopic or gynecologic examinations are recommended, since prophylactic colectomy or hysterectomy are not considered to be routine procedures.
家族性腺瘤性息肉病（FAP）和遗传性非息肉病性结直肠癌（HNPCC）是两种结直肠癌易患综合征，以常染色体显性方式遗传。它们分别占所有结直肠癌病例的约1%和5 - 7%。FAP由一种肿瘤抑制基因——腺瘤性息肉病 coli（APC）基因的种系突变引起，而HNPCC则是由DNA错配修复基因的基因改变导致。FAP的临床表现包括结肠以及结肠外部位（十二指肠、眼睛、牙齿、神经或结缔组织）。在FAP中，所有受影响的患者都需要进行预防性结肠切除术，并且对上消化道进行定期内镜检查对于检测十二指肠息肉的恶性转化是必要的；对于复杂的硬纤维瘤，药物治疗优于手术治疗。在HNPCC中，存在结肠外相关的子宫内膜癌、胃癌、小肠癌或脑癌。目前，对于HNPCC患者，仅建议采取定期结肠镜检查或妇科检查等预防措施，因为预防性结肠切除术或子宫切除术不被视为常规程序。
