Huang Sherry C, Erdman Steven H
Department of Pediatrics, Ohio State University College of Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
Curr Gastroenterol Rep. 2009 Jun;11(3):211-9. doi: 10.1007/s11894-009-0033-3.
Colon polyps are a common finding in pediatrics and can present with rectal bleeding, abdominal pain, or polyp prolapse from the rectum. Histologically classified as hamartomas, these isolated pediatric polyps lack epithelial dysplasia and have no cancer risk. However, when polyps are present in greater numbers, or are associated with a family history of polyps or colon or other cancers, a polyposis or hereditary colorectal cancer syndrome should be considered. Using a case-based format, this article reviews the clinical features and provides updates on the three most common hamartomatous polyp syndromes of childhood: juvenile polyposis syndrome, Peutz-Jeghers syndrome, and the PTEN hamartoma tumor syndrome. Each syndrome has distinctive intestinal and extra-intestinal findings that, when present, can guide genetic counseling and testing. Lifelong cancer surveillance is crucial to disease prevention and the long-term health of these patients and their families.
结肠息肉在儿科中很常见,可表现为直肠出血、腹痛或直肠息肉脱垂。这些孤立的儿科息肉组织学上分类为错构瘤,缺乏上皮发育异常,无癌症风险。然而,当息肉数量较多,或与息肉、结肠癌或其他癌症家族史相关时,应考虑息肉病或遗传性结直肠癌综合征。本文采用病例形式,回顾了临床特征,并提供了儿童期三种最常见的错构瘤性息肉综合征的最新信息:幼年性息肉病综合征、黑斑息肉综合征和PTEN错构瘤肿瘤综合征。每种综合征都有独特的肠道和肠道外表现,出现这些表现时可指导遗传咨询和检测。终身癌症监测对于预防疾病以及这些患者及其家庭的长期健康至关重要。