Case Report
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World J Gastroenterol. Apr 14, 2013; 19(14): 2286-2292
Published online Apr 14, 2013. doi: 10.3748/wjg.v19.i14.2286
Aggressive juvenile polyposis in children with chromosome 10q23 deletion
Seth Septer, Lei Zhang, Caitlin E Lawson, Jose Cocjin, Thomas Attard, Holly H Ardinger
Seth Septer, Jose Cocjin, Thomas Attard, Department of Gastroenterology and Hepatology, Children’s Mercy Hospital and Clinics, Kansas City, MO 64108, United States
Lei Zhang, Division of Cytogenetics, Department of Pathology, Children’s Mercy Hospital and Clinics, Kansas City, MO 64108, United States
Caitlin E Lawson, Holly H Ardinger, 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
Author contributions: Septer S, Cocjin J, Attard T and Ardinger HH designed the research; Septer S, Zhang L, Lawson CE, Attard T and Ardinger HH wrote the paper.
Correspondence to: Dr. Seth Septer, Department of Gastroenterology and Hepatology, Children’s Mercy Hospital and Clinics, 2401 Gillham Road, Kansas City, MO 64108, United States. ssepter@cmh.edu
Telephone: +1-816-2343016 Fax: +1-816-2341553
Received: December 22, 2012
Revised: February 1, 2013
Accepted: February 7, 2013
Published online: April 14, 2013
Core Tip

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.