Difference between revisions of "Juvenile polyposis syndrome"
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It is characterized by ([[hamartomatous]]) [[juvenile polyps]]. | It is characterized by ([[hamartomatous]]) [[juvenile polyps]]. | ||
Individuals with JPS have an increased risk of gastrointestinal cancer. | Individuals with JPS have an increased risk of gastrointestinal cancer. Classically, individuals with JPS get [[colorectal carcinoma]].<ref name=pmid20301642>{{Cite journal | last1 = Pagon | first1 = RA. | last2 = Bird | first2 = TD. | last3 = Dolan | first3 = CR. | last4 = Stephens | first4 = K. | last5 = Larsen Haidle | first5 = J. | last6 = Howe | first6 = JR. | title = Juvenile Polyposis Syndrome | journal = '' | volume = | issue = | pages = | month = | year = | doi = | PMID = 20301642 }}</ref> | ||
Note: | Note: | ||
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==Criteria for Dx of JPS== | ==Criteria for Dx of JPS== | ||
One of the following:<ref name=pmid20301642>{{Cite journal | last1 = Pagon | first1 = RA. | last2 = Bird | first2 = TD. | last3 = Dolan | first3 = CR. | last4 = Stephens | first4 = K. | last5 = Larsen Haidle | first5 = J. | last6 = Howe | first6 = JR. | title = Juvenile Polyposis Syndrome | journal = | One of the following:<ref name=pmid20301642>{{Cite journal | last1 = Pagon | first1 = RA. | last2 = Bird | first2 = TD. | last3 = Dolan | first3 = CR. | last4 = Stephens | first4 = K. | last5 = Larsen Haidle | first5 = J. | last6 = Howe | first6 = JR. | title = Juvenile Polyposis Syndrome | journal = '' | volume = | issue = | pages = | month = | year = | doi = | PMID = 20301642 }}</ref> | ||
#Five juvenile polyps in the colorectum. | #Five juvenile polyps in the colorectum. | ||
#"Multiple" juvenile polyps through-out GI tract. | #"Multiple" juvenile polyps through-out GI tract. | ||
Revision as of 02:39, 27 September 2011
Juvenile polyposis syndrome, abbreviated JPS, is an autosomal dominant inherited condition due to a mutation in SMAD4[1] or BMPR1A.[2]
General
It is characterized by (hamartomatous) juvenile polyps.
Individuals with JPS have an increased risk of gastrointestinal cancer. Classically, individuals with JPS get colorectal carcinoma.[3]
Note:
- SMAD4 is also associated with hereditary hemorrhagic telangiectasia syndrome.[1]
Criteria for Dx of JPS
One of the following:[3]
- Five juvenile polyps in the colorectum.
- "Multiple" juvenile polyps through-out GI tract.
- Juvenile polyp + family history of JPS.
Note:
- "Multiple" is not defined.