Lynch H T, Smyrk T C, Cavalieri J, Lynch J F
Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebraska.
Am J Gastroenterol. 1994 Apr;89(4):605-9.
Hereditary nonpolyposis colorectal cancer (HNPCC) families are frequently missed in the clinical practice setting. The events leading to the diagnosis of a new HNPCC family are described, with particular attention to the importance of a detailed and extended pedigree, and the delivery of pertinent educational and cancer control recommendations to family members. Clinical clues suggestive of HNPCC include young age at colon cancer onset (< 45 yr), proximal colon cancers, multiple colon cancer, and a family history of colonic cancer or certain extracolonic cancers, including endometrium, stomach, small bowel, and urinary tract. Once the diagnosis is established, management of high-risk patients must be based on an awareness of these cardinal features. The recent identification of the cancer susceptibility locus at chromosome 2p15-16 for a subset of HNPCC families and its cloning should lead to a blood test for the carrier state. HNPCC families must nevertheless be identified before high risk family members can enjoy the benefits of progress in molecular biology. This HNPCC family report illustrates some of the important clues necessary for recognizing such families, and the logistics of detailed evaluation.
遗传性非息肉病性结直肠癌（HNPCC）家族在临床实践中常常被漏诊。本文描述了导致一个新的HNPCC家族被诊断出来的一系列事件，特别强调了详细且扩展的家系图谱的重要性，以及向家庭成员提供相关教育和癌症控制建议的情况。提示HNPCC的临床线索包括结肠癌发病年龄较轻（<45岁）、近端结肠癌、多发性结肠癌，以及结肠癌或某些结肠外癌症（包括子宫内膜癌、胃癌、小肠癌和泌尿系统癌症）的家族史。一旦确诊，对高危患者的管理必须基于对这些主要特征的认识。最近在2号染色体p15 - 16区域为一部分HNPCC家族鉴定出癌症易感性位点并进行了克隆，这应该能带来针对携带者状态的血液检测。然而，在高危家庭成员能够受益于分子生物学进展之前，必须先识别出HNPCC家族。这份HNPCC家族报告阐述了识别此类家族所需的一些重要线索，以及详细评估的流程。
