Division of Gastroenterology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Am J Gastroenterol. 2010 Aug;105(8):1851-60. doi: 10.1038/ajg.2010.120. Epub 2010 Mar 30.
Lynch syndrome (LS) is a hereditary cancer syndrome that conveys a high risk of colorectal cancer (CRC). Guidelines recommend colonoscopy every 1 to 2 years. There is limited information about screening compliance in this high-risk group.
Data about cancer screening behaviors were obtained from subjects recruited through four US cancer genetics clinics. The main outcome was prevalence of appropriate CRC surveillance for LS.
A total of 181 individuals had a family history that met the Amsterdam criteria for LS (n=154) and/or had an identified mutation in a mismatch repair (MMR) gene (n=105). Of these 181 individuals, 131 (73%) had appropriate LS surveillance with colonoscopies at least every 2 years for their age >25 years. Of those with inadequate surveillance, 26/49 (53%) had colonoscopies at 3- to 5-year intervals. There were no significant differences in health-care setting, perceived risk of CRC, or compliance with screening for other cancers. Rates of appropriate surveillance were higher among individuals who had been referred for genetic evaluation for LS compared with those who had not (109/136 (80%) vs. 23/45 (51%), respectively, P=0.0004). In multivariate analysis, personal history of CRC (odds ratio (OR) 2.81), having a first-degree relative with CRC at age <50 years (OR 2.61), and having undergone a genetic evaluation (OR 4.62) were associated with appropriate CRC surveillance for LS.
The time between colonoscopic exams in patients with LS is often longer than recommended by current guidelines and may place them at risk for interval cancers. Recognizing clinical features of LS and providing genetic counseling, evaluation, and intensive surveillance may improve cancer prevention for those at the highest risk for CRC.
林奇综合征(LS)是一种遗传性癌症综合征,其结直肠癌(CRC)风险很高。指南建议每 1 至 2 年进行一次结肠镜检查。关于该高危人群的筛查依从性,信息有限。
通过美国四家癌症遗传学诊所招募的受试者获得有关癌症筛查行为的数据。主要结果是 LS 的 CRC 监测的适当性流行率。
共有 181 人有符合 LS 阿姆斯特丹标准的家族史(n=154)和/或存在错配修复(MMR)基因的突变(n=105)。在这 181 个人中,有 131 个人(73%)进行了适当的 LS 监测,他们的年龄> 25 岁,结肠镜检查每 2 年进行一次。在监测不足的人群中,有 26/49(53%)的人进行了 3-5 年的结肠镜检查。在医疗保健环境、CRC 可感知风险或其他癌症的筛查依从性方面,没有显著差异。与未进行 LS 遗传评估的个体相比,接受 LS 遗传评估的个体接受适当监测的比例更高(分别为 109/136(80%)与 23/45(51%),P=0.0004)。在多变量分析中,CRC 的个人病史(比值比(OR)2.81)、一级亲属在<50 岁时患有 CRC(OR 2.61)以及进行了遗传评估(OR 4.62)与 LS 的 CRC 监测适当性相关。
LS 患者的结肠镜检查之间的时间通常比当前指南建议的时间长,这可能使他们面临间隔期癌症的风险。识别 LS 的临床特征并提供遗传咨询、评估和强化监测可能会提高那些患 CRC 风险最高的人的癌症预防效果。