Elitsur Yoram, Teitelbaum Jonathan E, Rewalt Mary, Nowicki Michael
Department of Pediatrics, Gastroenterology Section, Joan C. Edwards School of Medicine, Marshall University, Huntington, WV 25701, USA.
J Clin Gastroenterol. 2009 Sep;43(8):734-6. doi: 10.1097/MCG.0b013e3181956e0c.
Juvenile polyposis syndrome (JPS) is a hereditary syndrome associated with several germline mutations, and carries a significant risk for future cancer development. Clinical data of JPS in children are sparse, and clinical guidelines are mainly derived from the adult population. In the present study, we describe the largest series of children diagnosed with JPS and present clinical, endoscopical, and histologic data.
A retrospective study of children with JPS was performed. Children were recruited from 3 academic pediatric gastroenterology centers. Clinical presentation, colonoscopic description, and histologic and demographic data were collected at initial presentation and at each future colonoscopy surveillance.
Thirty-six children were included in the study with a mean age of 7.35 years and male to female ratio of 1.25:1. The most common clinical presentation was gastrointestinal bleeding (100%). Family history of colon cancer was noted in 28% of children. A total of 366 polyps were removed, of which 90.5% were pedunculated and 9.5% were sessile. Up to 4 colonoscopic, follow-up surveillances were documented: 21 children had 1 surveillance, 10 children had 2 surveillances, 3 children had 3 surveillances, and 1 child had 4 surveillances. Polyps were evenly distributed throughout the colon. Most of the polyps (99.2%) had benign histology (inflammatory changes) and 3 (0.8%) involved focal adenomatous changes. No adenocarcinoma was identified in any of the 366 polyps.
Colonic polyps in JPS are rarely malignant during the pediatric age period. Our data suggest that the recommended colonic surveillance in children should be modified.
幼年性息肉病综合征（JPS）是一种与多种种系突变相关的遗传性综合征，具有未来发生癌症的重大风险。儿童JPS的临床数据稀少，临床指南主要源自成人患者群体。在本研究中，我们描述了诊断为JPS的最大系列儿童病例，并展示了临床、内镜和组织学数据。
对JPS患儿进行了一项回顾性研究。患儿来自3个学术性儿科胃肠病中心。在初次就诊时以及未来每次结肠镜检查监测时收集临床表现、结肠镜描述以及组织学和人口统计学数据。
36名儿童纳入研究，平均年龄7.35岁，男女比例为1.25:1。最常见的临床表现是胃肠道出血（100%）。28%的儿童有结肠癌家族史。共切除366个息肉，其中90.5%为有蒂息肉，9.5%为无蒂息肉。记录了多达4次结肠镜随访监测：21名儿童进行了1次监测，10名儿童进行了2次监测，3名儿童进行了3次监测，1名儿童进行了4次监测。息肉在整个结肠中分布均匀。大多数息肉（99.2%）具有良性组织学（炎症改变），3个（0.8%）有局灶性腺瘤样改变。366个息肉中均未发现腺癌。
JPS患儿的结肠息肉在儿童期很少恶变。我们的数据表明，儿童推荐的结肠监测应予以调整。
