Caplin S, Constanda M T, Givel J C
Service de chirurgie, CHUV, Lausanne.
Praxis (Bern 1994). 1996 Aug 27;85(35):1041-5.
Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal, dominantly inherited disease leading to a marked increase in cancer susceptibility, notably colorectal cancer, affecting up to one in 400 individuals in the Western world. Four genes responsible for the majority of cases have been identified. Colorectal cancer in affected people tends to be right sided, occur at an earlier age, and there is a propensity for synchronous or metachronous lesions. Extra-colonic tumours may occur with an elevated frequency, most importantly cancer of the endometrium, but also stomach, hepatobiliary system, small bowel, proximal ureter and renal pelvis, and ovary. On account of these features, management guidelines for members of HNPCC kindreds require modification from those generally advised for patients with sporadic tumours. The cardinal feature for the identification of affected families is the family history. All clinicians have a duty to identify such patients under their care as appropriate screening and surgery should lead to an improved prognosis for such patients and their families.
遗传性非息肉病性结直肠癌(HNPCC)是一种常染色体显性遗传病,会导致癌症易感性显著增加,尤其是结直肠癌,在西方世界每400人中就有1人受其影响。已确定了导致大多数病例的四个基因。患病人群中的结直肠癌往往发生在右侧,发病年龄较早,并且有发生同步或异时性病变的倾向。结肠外肿瘤的发生频率可能会升高,最重要的是子宫内膜癌,还有胃癌、肝胆系统癌、小肠癌、近端输尿管和肾盂癌以及卵巢癌。鉴于这些特征,HNPCC家族成员的管理指南需要不同于一般针对散发性肿瘤患者的建议。识别受影响家族的主要特征是家族病史。所有临床医生都有责任识别其照护下的此类患者,因为适当的筛查和手术应能改善此类患者及其家族的预后。