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
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.