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World J Gastroenterol. Nov 28, 2011; 17(44): 4839-4844
Published online Nov 28, 2011. doi: 10.3748/wjg.v17.i44.4839
Juvenile polyposis syndrome
Lodewijk AA Brosens, Danielle Langeveld, W Arnout van Hattem, Francis M Giardiello, G Johan A Offerhaus
Lodewijk AA Brosens, Danielle Langeveld, G Johan A Offerhaus, Department of Pathology, University Medical Centre Utrecht, PO Box 85500, 3508 GA Utrecht, The Netherlands
Danielle Langeveld, W Arnout van Hattem, G Johan A Offerhaus, Department of Pathology, Academic Medical Centre, PO Box 22660, 1100 DD Amsterdam, The Netherlands
Francis M Giardiello, Division of Gastroenterology, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, United States
Author contributions: Brosens LAA designed and wrote the paper; Langeveld D, van Hattem WA, Giardiello FM and Offerhaus GJA provided significant intellectual content and critically revised the manuscript.
Correspondence to: Dr. Lodewijk AA Brosens, Department of Pathology, University Medical Center Utrecht, PO Box 85500, 3508 GA Utrecht, The Netherlands. l.a.a.brosens@umcutrecht.nl
Telephone: +31-88-7551682 Fax: +31-30-2544990
Received: January 28, 2011
Revised: June 9, 2011
Accepted: June 16, 2011
Published online: November 28, 2011

Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes. Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum, juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis. In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found. Both genes play a role in the BMP/TGF-beta signalling pathway. It has been suggested that cancer in juvenile polyposis may develop through the so-called “landscaper mechanism” where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma. Recognition of this rare disorder is important for patients and their families with regard to treatment, follow-up and screening of at risk individuals. Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome. In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome.

Keywords: Juvenile polyposis syndrome, Hamartoma, Colorectal cancer, SMAD4, BMPR1A