Published online Apr 14, 2013. doi: 10.3748/wjg.v19.i14.2286
Revised: February 1, 2013
Accepted: February 7, 2013
Published online: April 14, 2013
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.
Core tip: Children with aggressive juvenile polyposis related to microdeletions of chromosome 10q23 and involving PTEN and BMPR1A are rare, however this deletion conveys significant gastrointestinal and extraintestinal risks. Children with this gene mutation are at significant risk for extensive polyposis, early colectomy and gastrointestinal malignancy. This work describes the clinical manifestations associated with these deletions. We also suggest genetic testing strategies for those with juvenile polyps and also propose gastrointestinal surveillance for patients with chromosome 10q23 deletions encompassing PTEN and BMPR1A.