Stone James K, Bernstein Charles N, Singh Harminder, El-Matary Wael
Department of Internal Medicine, Section of Gastroenterology, University of Manitoba Max Rady College of Medicine, Winnipeg, Manitoba, Canada.
IBD Clinical and Research Center, University of Manitoba, Winnipeg, Manitoba, Canada.
J Can Assoc Gastroenterol. 2020 Dec 24;4(5):e101-e109. doi: 10.1093/jcag/gwaa040. eCollection 2021 Oct.
To assess the prevalence of upper gastrointestinal adenomatous polyps in a cohort of pediatric familial adenomatous polyposis (FAP) patients to determine if early screening is warranted.
All 11 pediatric FAP patients diagnosed in Manitoba between January 2012 and December 2019 were recruited. Patient records were examined and data on age of diagnosis, gene mutation, age of first screening endoscopy, number of endoscopies, number of gastric and colonic polyps, associated pathology, medications, symptoms and FAP-related surgeries were extracted and descriptive statistics reported.
A total of 11 children were diagnosed with FAP over the study period with a mean age at diagnosis of 6.3 ± 3.2 years with 72.3% males and median follow-up of 4.8 years. The mean age at first gastroscopy was 10.9 ± 2.9 years and 10.8 ± 3.0 years at colonoscopy. Eight patients (72%) had upper gastrointestinal polyps, with adenomatous changes seen in seven of them on pathology. No patients had invasive carcinoma or high-grade dysplasia. All patients developed tubular adenomas on colorectal polyp pathology. Four (36%) patients underwent surgical colectomy.
Early-onset upper gastrointestinal adenomatous polyps in a pediatric FAP are common. Our study provides further data to support consideration of further, large-scale research into the benefit of early endoscopic screening for upper gastrointestinal malignancy in FAP patients.
评估一组小儿家族性腺瘤性息肉病（FAP）患者中上消化道腺瘤性息肉的患病率，以确定是否有必要进行早期筛查。
招募了2012年1月至2019年12月在马尼托巴省诊断出的所有11例小儿FAP患者。检查患者记录，并提取有关诊断年龄、基因突变、首次筛查内镜检查的年龄、内镜检查次数、胃和结肠息肉数量、相关病理、药物治疗、症状以及FAP相关手术的数据，并报告描述性统计结果。
在研究期间，共有11名儿童被诊断为FAP，诊断时的平均年龄为6.3±3.2岁，男性占72.3%，中位随访时间为4.8年。首次胃镜检查的平均年龄为10.9±2.9岁，结肠镜检查的平均年龄为10.8±3.0岁。8例患者（72%）有上消化道息肉，其中7例病理检查显示有腺瘤样改变。没有患者发生浸润性癌或高级别上皮内瘤变。所有患者的结直肠息肉病理检查均发现管状腺瘤。4例（36%）患者接受了结肠切除术。
小儿FAP患者中早发性上消化道腺瘤性息肉很常见。我们的研究提供了进一步的数据，以支持对FAP患者早期内镜筛查对上消化道恶性肿瘤的益处进行进一步大规模研究的考虑。
