Robert-Grandpierre F, Bressoud A, Hutter P, Tschantz P
Service de chirurgie et d'oncologie, Hôpitaux de la Ville, Neuchâtel.
Rev Med Suisse Romande. 2001 May;121(5):357-60.
Lynch Syndrom (or Hereditary Non-polyposic Colorectal Cancer (HNPCC)) can be described as the presence of an autosomic dominant mutation predisposing to early colorectal cancer. Suggestive familial history and young patient with colorectal cancer should undergo thorough investigation. In Switzerland, investigation will first attempt to show microsatellites instability in fumoral cells, then mutation in blood. If positive, direct progeny and family should be tested. Those who are mutation free may be followed as normal population. The others should have more frequent colorectal and gynecologic follow-up. Surgical treatment will attempt to prevent synchrone or metachrone colorectal cancer by total colectomy. Preventive colectomy is attractive but controversial.
林奇综合征(或遗传性非息肉病性结直肠癌(HNPCC))可被描述为存在一种易患早期结直肠癌的常染色体显性突变。有提示性家族史且患有结直肠癌的年轻患者应接受全面检查。在瑞士,检查首先会尝试检测体液细胞中的微卫星不稳定性,然后检测血液中的突变。如果结果为阳性,则应对直系后代和家族成员进行检测。未检测到突变的人可按正常人群进行随访。其他人则应更频繁地接受结直肠和妇科方面的随访。手术治疗将试图通过全结肠切除术预防同时性或异时性结直肠癌。预防性结肠切除术虽有吸引力但存在争议。