Division of Gastroenterology and Hepatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
Division of Hematology and Oncology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
Cancer Prev Res (Phila). 2020 Dec;13(12):1047-1054. doi: 10.1158/1940-6207.CAPR-20-0269. Epub 2020 Aug 28.
Lynch syndrome is a prevalent hereditary cancer predisposition syndrome. While colorectal cancer is the most common gastrointestinal (GI) cancer in Lynch syndrome, there is also increased risk of gastric and small intestinal cancers. Recommendations for upper GI cancer surveillance in Lynch syndrome vary widely with limited data supporting effectiveness. Herein, we collected data on individuals with a diagnosis of Lynch syndrome seen at our tertiary care referral center. We identified individuals who underwent upper endoscopy and those with upper GI cancers, and associated demographics, genetic testing results, and endoscopic information. Standard statistical analyses were performed. Among 295 individuals with Lynch syndrome seen at our center, 217 (73.6%) underwent 660 total upper endoscopies. Of these 217, precancerous upper endoscopy findings included Barrett's esophagus (7, 3.2%), gastric intestinal metaplasia (18, 8.3%), and duodenal adenomas (4, 1.8%), and was identified in 6 (2.8%). Upper GI cancers were diagnosed in 11 individuals (3.7%), including esophageal in 1, gastric in 6, and duodenal in 4. Five (1.7%) of these upper GI cancers were identified on surveillance. Individuals with upper GI cancers identified on surveillance were older at first surveillance endoscopy, with median age 63.3 versus 44.9 years ( < 0.001). Of the upper GI cancers detected on surveillance, 80% (4/5) occurred within 2 years of last upper endoscopy and 80% were stage I. In conclusion, upper endoscopy surveillance in Lynch syndrome identifies upper GI cancers. For individuals with Lynch syndrome who undergo upper GI surveillance, a short surveillance interval may be warranted.
林奇综合征是一种常见的遗传性癌症易感综合征。虽然结直肠癌是林奇综合征中最常见的胃肠道(GI)癌症,但胃癌和小肠癌的风险也有所增加。林奇综合征中上消化道癌症监测的建议差异很大,并且支持有效性的数据有限。在此,我们收集了在我们的三级医疗转诊中心就诊的林奇综合征患者的数据。我们确定了接受上消化道内镜检查和患有上消化道癌症的患者,并确定了相关的人口统计学、基因检测结果和内镜信息。进行了标准的统计分析。在我们中心就诊的 295 名林奇综合征患者中,217 名(73.6%)接受了 660 次上消化道内镜检查。在这 217 名患者中,癌前上消化道内镜检查结果包括巴雷特食管(7 例,3.2%)、胃肠化生(18 例,8.3%)和十二指肠腺瘤(4 例,1.8%),并且发现了 6 例(2.8%)。11 名患者(3.7%)诊断为上消化道癌症,包括食管 1 例、胃 6 例和十二指肠 4 例。其中 5 例(1.7%)在上消化道癌症监测中发现。在上消化道癌症监测中发现的上消化道癌症患者首次监测内镜检查时年龄较大,中位年龄为 63.3 岁与 44.9 岁(<0.001)。在上消化道癌症监测中发现的癌症中,80%(4/5)在上次上消化道内镜检查后 2 年内发生,80%为 I 期。总之,林奇综合征的上消化道内镜监测可发现上消化道癌症。对于接受上消化道监测的林奇综合征患者,可能需要较短的监测间隔。