Queen Mary University of London, Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine, Charterhouse Square, London, United Kingdom.
Int J Cancer. 2014 Feb 15;134(4):939-47. doi: 10.1002/ijc.28397. Epub 2013 Aug 29.
Surveillance guidelines for the management of familial colorectal cancer (FCC), a dominant family history of colorectal cancer in which the polyposis syndromes and Lynch syndrome have been excluded, are not firmly established. The outcome of colonoscopic surveillance is studied using data from six centers. DNA mismatch repair deficiency was excluded by genetic testing. Families were classified as FCC type X if they fulfilled the original Amsterdam criteria (AC) and late onset (LOFCC) if they fulfilled the AC apart from not having a cancer aged under 50. The most advanced findings on colonoscopy were analyzed. One thousand five hundred eighty-five individuals (median age 47.3, 44% male) from 530 FCC families (349 FCC type X) underwent a total of 4,992 colonoscopies with 7,904 patient-years of follow-up. Results for FCC type X and LOFCC were very similar. At baseline, 22 prevalent asymptomatic colorectal cancers were diagnosed, 120 (7.6%) individuals had high-risk adenomas and 225 (14.2%) simple adenomas. One thousand eighty-eight individuals had a further colonoscopy (median follow-up of 6.2 years). Of nine individuals diagnosed with cancer, eight had a previous history of at least one polyp/adenoma. High-risk adenomas were detected in 92 (8.7%) and multiple adenomas were detected in 20 (1.9%) individuals. Both FCC type X and LOFCC have a high prevalence of colorectal cancers and on follow-up develop high-risk adenomas (including multiple adenomas), but infrequent interval cancers. They should be managed similarly with five-yearly colonoscopies undertaken from between 30 and 40 with more intensive surveillance in individuals developing multiple or high-risk adenomas.
家族性结直肠癌（FCC）的管理监测指南尚未确定，FCC 是指结直肠癌的显性家族史，其中已排除了息肉病综合征和林奇综合征。使用来自六个中心的数据研究结肠镜监测的结果。通过基因测试排除 DNA 错配修复缺陷。如果家族符合原始阿姆斯特丹标准（AC）且发病年龄晚（LOFCC），即除了 50 岁以下没有癌症之外，家族符合 AC，则将其归类为 FCC 型 X。分析结肠镜检查中最先进的发现。530 个 FCC 家族（349 个 FCC 型 X）的 1585 名个体（中位年龄 47.3 岁，44%为男性）接受了总共 4992 次结肠镜检查，随访时间为 7904 患者年。FCC 型 X 和 LOFCC 的结果非常相似。在基线时，诊断出 22 例无症状结直肠癌，120 例（7.6%）个体有高危腺瘤，225 例（14.2%）有单纯腺瘤。1088 名个体进行了进一步的结肠镜检查（中位随访 6.2 年）。在诊断出的 9 名癌症患者中，有 8 名患者之前至少有一次息肉/腺瘤史。92 例（8.7%）个体中检测到高危腺瘤，20 例（1.9%）个体中检测到多个腺瘤。FCC 型 X 和 LOFCC 都有很高的结直肠癌患病率，并且在随访中发展出高危腺瘤（包括多个腺瘤），但间隔期癌症罕见。它们的管理方式相似，建议从 30 岁到 40 岁之间每 5 年进行一次结肠镜检查，如果个体发展出多个或高危腺瘤，则进行更密集的监测。
