Aggressive juvenile polyposis in children with chromosome 10q23 deletion  

作　　者：Seth Septer Lei Zhang Caitlin E Lawson Jose Cocjin Thomas Attard Holly H Ardinger 

机构地区：[1]Department of Gastroenterology and Hepatology,Children's Mercy Hospital and Clinics,Kansas City,MO 64108,United States [2]Division of Cytogenetics,Department of Pathology, Children's Mercy Hospital and Clinics,Kansas City,MO 64108, United States [3]Division of Clinical Genetics,Department of Pediatrics,Children's Mercy Hospitals and Clinics and University of Missouri,Kansas City School of Medicine,Kansas City,MO 64108,United States

出　　处：《World Journal of Gastroenterology》2013年第14期2286-2292,共7页世界胃肠病学杂志（英文版）

摘　　要：Juvenile polyps are relatively common findings in children,while juvenile polyposis syndrome(JPS) is a rare hereditary syndrome entailing an increased risk of colorectal cancer.Mutations in BMPR1A or SMAD4 are found in roughly half of patients diagnosed with JPS.Mutations in PTEN gene are also found in patients with juvenile polyps and in Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome.Several previous reports have described microdeletions in chromosome 10q23 encompassing both PTEN and BMPR1A causing aggressive polyposis and malignancy in childhood.These reports have also described extra-intestinal findings in most cases including cardiac anomalies,developmental delay and macrocephaly.In this report we describe a boy with a 5.75 Mb deletion of chromosome 10q23 and a 1.03 Mb deletion within chromosome band 1p31.3who displayed aggressive juvenile polyposis and multiple extra-intestinal anomalies including macrocephaly,developmental delay,short stature,hypothyroidism,atrial septal defect,ventricular septal defect and hypospadias.He required colectomy at six years of age,and early colectomy was a common outcome in other children with similar deletions.Due to the aggressive polyposis and reports of dysplasia and even malignancy at a young age,we propose aggressive gastrointestinal surveillance in children with 10q23 microdeletions encompassing the BMPR1A and PTEN genes to include both the upper and lower gastrointestinal tracts,and also include a flowchart for an effective genetic testing strategy in children with juvenile polyposis.Juvenile polyps are relatively common findings in children, while juvenile polyposis syndrome (JPS) is a rare hereditary syndrome entailing an increased risk of colorectal cancer. Mutations in BMPR1A or SMAD4 are found in roughly half of patients diagnosed with JPS. Mutations in PTEN gene are also found in patients with juvenile polyps and in Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome. Several previous reports have described microdeletions in chromosome 10q23 encompassing both PTEN and BMPR1A causing aggressive polyposis and malignancy in childhood. These reports have also described extra-intestinal findings in most cases including cardiac anomalies, developmental delay and macrocephaly. In this report we describe a boy with a 5.75 Mb deletion of chromosome 10q23 and a 1.03 Mb deletion within chromosome band 1p31.3 who displayed aggressive juvenile polyposis and multiple extra-intestinal anomalies including macrocephaly, developmental delay, short stature, hypothyroidism, atrial septal defect, ventricular septal defect and hypospadias. He required colectomy at six years of age, and early colectomy was a common outcome in other children with similar deletions. Due to the aggressive polyposis and reports of dysplasia and even malignancy at a young age, we propose aggressive gastrointestinal surveillance in children with 10q23 microdeletions encompassing the BMPR1A and PTEN genes to include both the upper and lower gastrointestinal tracts, and also include a flowchart for an effective genetic testing strategy in children with juvenile polyposis.

关 键 词：POLYPOSIS GENETICS Cancer Endoscopy PEDIATRIC 

分 类 号：R735.3[医药卫生—肿瘤]