| Juvenile polyposis syndrome | |
|---|---|
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| Micrograph of a gastric juvenile polyp, as may be seen in juvenile polyposis syndrome. H&E stain | |
| Causes | Genetic mutation in BMPR1A or SMAD4 |
Juvenile polyposis syndrome is an autosomal dominant genetic condition characterized by the appearance of multiple juvenile polyps in the gastrointestinal tract. Polyps are abnormal growths arising from a mucous membrane. These usually begin appearing before age 20, but the term juvenile refers to the type of polyp (i.e. benign hamartoma, as opposed to adenoma for example), not to the age of the affected person.[1] While the majority of the polyps found in juvenile polyposis syndrome are non-neoplastic, hamartomatous, self-limiting and benign, there is an increased risk of adenocarcinoma.
Solitary juvenile polyps most commonly occur in the rectum and present with rectal bleeding. The World Health Organization criteria for diagnosis of juvenile polyposis syndrome are one of either:
- More than five juvenile polyps in the colon or rectum; or
- Juvenile polyps throughout the gastrointestinal tract; or
- Any number of juvenile polyps in a person with a family history of juvenile polyposis.[2]
- ^ GeneReviews NBK1469
- ^ Stoler, Mark A.; Mills, Stacey E.; Carter, Darryl; Joel K Greenson; Reuter, Victor E. (2009). Sternberg's Diagnostic Surgical Pathology. Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN 978-0-7817-7942-5.