Division of Gastroenterology and Nutrition, Children's Hospital Boston, Boston, Massachusetts 02115, USA.
Clin Gastroenterol Hepatol. 2010 Sep;8(9):795-9. doi: 10.1016/j.cgh.2010.05.010. Epub 2010 May 23.
BACKGROUND & AIMS: Juvenile polyps are benign hamartomas with neoplastic potential that are the most frequent gastrointestinal polyp of childhood. Most information about juvenile polyps in childhood comes from small published series that lack detailed outcome data. We sought to identify a large cohort of children with one or more polyps and analyze clinical characteristics, including polyp recurrence, which might contribute to the development of management guidelines.
A retrospective chart review study of patients with juvenile polyps of the colon was performed. Cases were identified by searching a single hospital pathology database from 1990 to 2009 for the diagnosis of juvenile polyps. Recorded information included basic demographics, family history, genetic testing, and colonoscopy and pathology reports.
A total of 257 children (median age, 5.6 y; 61.5% male) with juvenile polyps were identified. Among 192 patients who underwent complete colonoscopy at initial diagnosis, 117 (60.9%) had a single polyp, 75 (39.1%) had multiple polyps, 8 (4.2%) had polyps restricted to the right colon, and a total of 1653 polyps were found during 350 colonoscopy examinations. Polyps recurred in 21 of 47 (44.7%) patients after initial eradication, including 3 (16.7%) of 18 presenting with a single polyp. Neoplasia was found in 10 of 257 (3.9%) patients (right colon in 7 patients). Germline DNA abnormalities in mothers against decapentaplegic Drosophila (SMAD4), bone morphogenetic protein receptor 1A (BMPR1A), and phosphatase and tensin homolog (PTEN) were detected in 10 of 23 (43.5%) patients with multiple polyps.
Recurrent polyp formation is common in children with juvenile polyps and occurs in patients with multiple and solitary polyps. Standardized protocols for detecting polyp recurrence, associated gene mutations, and neoplasia should be developed for children with juvenile polyps.
幼年性息肉是具有潜在肿瘤性的良性错构瘤,是儿童最常见的胃肠道息肉。大多数关于儿童幼年性息肉的信息来自于缺乏详细结局数据的小型已发表系列研究。我们试图确定一个有一个或多个息肉的大儿童队列,并分析临床特征,包括息肉复发,这可能有助于制定管理指南。
对 1990 年至 2009 年期间在一家医院的病理数据库中搜索诊断为幼年性息肉的患者进行了回顾性图表审查研究。记录的信息包括基本人口统计学资料、家族史、基因检测以及结肠镜检查和病理报告。
共发现 257 例(中位年龄 5.6 岁;61.5%为男性)患有结肠幼年性息肉的儿童。在 192 例初次诊断时接受了完整结肠镜检查的患者中,117 例(60.9%)有单个息肉,75 例(39.1%)有多发性息肉,8 例(4.2%)息肉仅限于右半结肠,在 350 次结肠镜检查中发现了 1653 个息肉。21 例(44.7%)患者在初次切除后息肉复发,其中 18 例中有 3 例(16.7%)为单发息肉。257 例患者中有 10 例(3.9%)发现肿瘤(7 例位于右半结肠)。在 23 例多发性息肉患者中有 10 例(43.5%)检测到母亲对抗 decapentaplegic 果蝇(SMAD4)、骨形态发生蛋白受体 1A(BMPR1A)和磷酸酶和张力蛋白同源物(PTEN)的种系 DNA 异常。
幼年性息肉患儿的息肉复发常见,且发生于多发性和单发息肉患者中。应为幼年性息肉患儿制定检测息肉复发、相关基因突变和肿瘤的标准化方案。