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Juvenile polyposis syndrome

Daniel C Chung, MD
Tomer Adar, MD
Section Editors
J Thomas Lamont, MD
Barbara Goff, MD
Deputy Editor
Shilpa Grover, MD, MPH


Juvenile polyposis syndrome (JPS) is an autosomal dominant condition characterized by multiple hamartomatous polyps throughout the gastrointestinal tract. Individuals with JPS are at increased risk for colorectal and gastric cancer [1,2]. In contrast to JPS, sporadic juvenile polyps of the colon occur in up to 2 percent of children under the age of 10 years, are usually solitary, and are not associated with an increased cancer risk [3].

This topic will review the clinical manifestations, diagnosis, and management of JPS. The clinical manifestations and diagnosis of other hamartomatous polyposis syndromes (eg, Peutz-Jeghers syndrome, Cowden syndrome, and Bannayan-Riley-Ruvalcaba syndrome) and adenomatous polyposis syndromes (eg, familial adenomatous polyposis and MUTYH-associated polyposis) are discussed in detail, separately [4]. (See "Peutz-Jeghers syndrome: Epidemiology, clinical manifestations, and diagnosis" and "PTEN hamartoma tumor syndrome, including Cowden syndrome" and "Clinical manifestations and diagnosis of familial adenomatous polyposis" and "MUTYH-associated polyposis".)


JPS is rare, with an estimated incidence of 1 in 100,000 to 160,000 individuals [1].


JPS is an autosomal dominant condition with incomplete penetrance [5]. JPS occurs as a result of germline mutations in the SMAD4 (MADH4) or bone morphogenetic protein receptor type-1A (BMPR1A) genes, which are related to the transforming growth factor-beta (TGF-beta) signaling pathway [6,7]. Mutations in SMAD4 or BMPR1A are identified in approximately 60 percent of JPS patients. Approximately 25 percent of patients have de novo mutations [8,9].

The SMAD4 gene is located on chromosome 18q21.1 and encodes for a cytoplasmic mediator of the TGF-beta signaling pathway. SMAD4 forms heteromeric complexes with other proteins of the SMAD family, and these complexes then act within the nucleus [5,10].


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Literature review current through: Sep 2016. | This topic last updated: Dec 15, 2015.
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