Juvenile polyposis syndrome
| Juvenile polyposis syndrome | |
|---|---|
| Classification and external resources | |
 Micrograph of a gastric juvenile polyp, as may be seen in juvenile polyposis syndrome. H&E stain. |
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| OMIM | 174900 |
| DiseasesDB | 7067 |
Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple polyps in the gastrointestinal tract, usually in a child, adolescent or young adult.[1] Polyps refers to an abnormal growth arising from a mucous membrane. 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].
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[edit] Presentation
Age of onset is variable. The term 'Juvenile' in the title of Juvenile Polyposis Syndrome refers to the histological type of the polyps rather than age of onset.
Affected individuals may present with rectal bleeding, abdominal pain, diarrhea or anemia. On colonoscopy or sigmoidoscopy polyps that vary in shape or size are present. The polyps can be sessile or pedunculated hamartomatous polyps[3].
Most juvenile polyps are benign, however, malignancy can occur. Lifetime risk of developing cancers of the gastro-intestinal tract in people with Juvenile Polyposis Syndrome ranges from 9% to 50%.[4]
[edit] Genetics
Juvenile Polyposis Syndrome can occur sporadically in families or be inherited in an autosomal dominant manner.
Two genes associated with Juvenile Polyposis Syndrome are BMPR1A and SMAD4 [5] Gene testing may be useful when trying to ascertain which non-symptomatic family members may be at risk of developing polyps, however having a known familial mutation would be unlikely to change the course of treatment. A known mutation may also be of use for affected individuals when they decide to start a family as it allows them reproductive choices.
While mutations in the gene PTEN were also thought to have caused Juvenile Polyposis Syndrome, it is now thought that mutations in this gene cause a similar clinical picture to Juvenile Polyposis Syndrome but are actually affected with Cowden syndrome or other phenotypes of the PTEN harmatoma tumour syndrome.
[edit] Prognosis
Solitary polyps have no significant risk of cancer. But multiple polyps (>5), polyposis syndrome, of the colon carries a 10% risk of developing into cancer. This is mainly because of juvenile polyps developing adenomatous tissue.
[edit] Screening and treatment
People with juvenile polyps may require yearly upper and lower endoscopies with polyp excision and cytology. Their siblings may also need to be screened regularly.[citation needed] Malignant transformation of polyps requires surgical colectomy.
[edit] References
- ^ "Juvenile Polyposis Syndrome -- GeneReviews -- NCBI Bookshelf". http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=jps. Retrieved 2008-10-16.
- ^ 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 0-7817-7942-1.
- ^ Genereviews. juvenile Polyposis Syndrome. James R Howe, MD.
- ^ Howe, Roth, Ringold, Summers, Jarvinen, Sistonen, Tomlinson, Houlston, Bevan, Mitros, Stone, Aaltonen. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. SCience 1998. 280; 1086-1088
- ^ GeneReviews. Juvenile Polyposis Syndrome. James R Howe, MD.
[edit] External links
- http://www.peutz-jeghers.com/jp/default.htm
- http://www.mtsinai.on.ca/familialgicancer/Diseases/JP/default.htm
- GeneReview/NIH/UW entry on Juvenile Polyposis Syndrome
- http://www.polyposisregistry.org.uk/
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