Carpenter S, Broughton M, Marks C G
Department of Surgery, Royal Surrey County Hospital, Guildford.
Gut. 1995 Jan;36(1):90-2. doi: 10.1136/gut.36.1.90.
A family cancer screening clinic was set up to screen and counsel subjects at above average risk of developing colorectal cancer. Criteria for referral were one first degree relative under 50 years or two of any age with colorectal cancer. Pedigree information was used to estimate lifetime risks of developing colorectal cancer and offer appropriate screening: colonoscopy for high risks (greater than 1 in 10), faecal occult blood testing for lower risks. One hundred and eleven subjects from 76 families were seen over four years. Forty two families gave a pedigree consistent with dominantly inherited non-polyposis colorectal cancer syndrome (HNPCC). Three subjects from one family were found to have familial adenomatous polyposis. Ninety two colonoscopies yielded 21 patients with polyps (12 had tubular adenomas, including one with early malignant invasion). Thirty three per cent (four of 12) of the tubular adenomas were beyond the reach of a flexible sigmoidoscope. Three hundred and forty two further high risk relatives were identified from the family history.
设立了一家家族癌症筛查诊所，对患结直肠癌风险高于平均水平的对象进行筛查和咨询。转诊标准为有一位50岁以下的一级亲属患结直肠癌，或有两位任何年龄的亲属患结直肠癌。利用家系信息来估计患结直肠癌的终生风险，并提供适当的筛查：高风险者（风险大于十分之一）进行结肠镜检查，低风险者进行粪便潜血检测。在四年时间里，共接待了来自76个家庭的111名对象。42个家庭的家系符合显性遗传的非息肉病性结直肠癌综合征（HNPCC）。发现一个家庭的三名对象患有家族性腺瘤性息肉病。92次结肠镜检查发现21例息肉患者（12例为管状腺瘤，其中1例有早期恶性浸润）。12例管状腺瘤中有33%（4例）在乙状结肠镜检查的范围之外。根据家族病史又确定了另外342名高风险亲属。
