Juvenile polyposis syndrome is an autosomal dominant disorder in which multiple hamartomatous polyps with histology characteristic of juvenile polyps occur in the gastrointestinal tract. In distinction from isolated sporadic juvenile polyps, the generally accepted clinical criteria are at least 5 juvenile polyps in the colorectum or juvenile polyps elsewhere in the gastrointestinal tract. There is a 30–40% lifetime risk of colorectal cancer and an increased risk of other gastrointestinal cancers. There is no excess risk of extra-gastrointestinal cancers. Some patients may also manifest hereditary haemorrhagic telangiectasia.
No systematic reviews on this topic were undertaken in the development of this section. The guidance on juvenile polyposis syndrome is based on recent international guidelines. See Guidelines Development for more information.
Genetic testing is indicated to confirm the diagnosis and in relatives of known mutation carriers. Up to 60% of individuals with clinical juvenile polyposis syndrome have identifiable pathogenic mutations in SMAD4 or BMPR1A. In individuals with BMPR1A mutations polyps of mixed morphology can be present in addition to juvenile polyps.
|Practice pointA recommendation on a subject that is outside the scope of the search strategy for the systematic review, based on expert opinion and formulated by a consensus process.|
In patients with a diagnosis of juvenile polyposis syndrome, colonoscopy should commence at age 12–15 or earlier if symptoms occur (Syngal et al., 2015; Cancer Institute NSW, 2016). It should be repeated every 1 to 3 years depending on polyp burden. ColectomyThe surgical removal of all or part of the colon. The affected areas of the colon are cut out and the two ends are joined back together. Colectomies are named for the part removed. They include: right and left hemicolectomies, and transverse, sigmoid, subtotal and total colectomies. is indicated if polyps cannot be managed endoscopically (Syngal et al., 2015; Cancer Institute NSW, 2016).
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- Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263 Abstract available at http://www.ncbi.nlm.nih.gov/pubmed/25645574.
- Cancer Institute NSW. eviQ Cancer Genetics Referral Guidelines for Colorectal Cancer or Polyposis Risk Assessment and Consideration of Genetic Testing. [homepage on the internet] Sydney; 2016 [cited 2016 Sep 6]. Available from: https://www.eviq.org.au/Category/tabid/65/categoryid/6/Default.aspx.