Juvenile polyposis syndrome

Common Name(s)

Juvenile polyposis syndrome

Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases ({10:Handra-Luca et al., 2005}). It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene ({601728}), the same gene that is mutant in Cowden disease ({158350}) and in Bannayan-Zonana syndrome ({153480}). In a comprehensive review of PTEN, {39:Waite and Eng (2002)} concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Juvenile polyposis syndrome" for support, advocacy or research.

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Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome Online Support Group

We are an e-mail forum providing support and information for individuals, families and friends affected by PJS (Peutz-Jeghers syndrome) & JPS (Juvenile Polyposis syndrome). Medical professionals and researchers may join too.

Last Updated: 6 May 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Juvenile polyposis syndrome" for support, advocacy or research.

Logo
Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome Online Support Group

We are an e-mail forum providing support and information for individuals, families and friends affected by PJS (Peutz-Jeghers syndrome) & JPS (Juvenile Polyposis syndrome). Medical professionals and researchers may join too.

http://peutz-jeghersnews.blogspot.com/

Last Updated: 6 May 2014

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Juvenile polyposis syndrome" returned 14 free, full-text research articles on human participants. First 3 results:

Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
 

Author(s): Polakit Teekakirikul, Dianna M Milewicz, David T Miller, Ronald V Lacro, Ellen S Regalado, Ana Maria Rosales, Daniel P Ryan, Tomi L Toler, Angela E Lin

Journal: Am. J. Med. Genet. A. 2013 Jan;161A(1):185-91.

 

Dilation or aneurysm of the ascending aorta can progress to acute aortic dissection (Thoracic Aortic Aneurysms and Aortic Dissections, TAAD). Mutations in genes encoding TGF-β-related proteins (TGFBR1, TGFBR2, FBN1, and SMAD3) cause syndromic and inherited TAAD. SMAD4 mutations are ...

Last Updated: 2 Jan 2013

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Juvenile polyposis syndrome presenting with familial gastric cancer and massive gastric polyposis.
 

Author(s): Zsofia K Stadler, Erin Salo-Mullen, Liying Zhang, Jinru Shia, Ruben Bacares, Derek G Power, Martin Weiser, Daniel Coit, Mark E Robson, Kenneth Offit, Mark Schattner

Journal: J. Clin. Oncol.. 2012 Sep;30(25):e229-32.

 

Last Updated: 3 Sep 2012

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SMAD4 immunohistochemistry reflects genetic status in juvenile polyposis syndrome.
 

Author(s): Danielle Langeveld, W Arnout van Hattem, Wendy W J de Leng, Folkert H Morsink, Fiebo J W Ten Kate, Francis M Giardiello, G Johan A Offerhaus, Lodewijk A A Brosens

Journal: Clin. Cancer Res.. 2010 Aug;16(16):4126-34.

 

Juvenile polyposis syndrome (JPS) can be caused by a germline defect of the SMAD4 gene. Somatic inactivation of SMAD4 occurs in pancreatic and colorectal cancers and is reflected by loss of SMAD4 immunohistochemistry. Here, SMAD4 immunohistochemistry as a marker of SMAD4 gene status ...

Last Updated: 13 Aug 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Juvenile polyposis syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Juvenile polyposis syndrome.
 

Author(s): Lodewijk Aa Brosens, Danielle Langeveld, W Arnout van Hattem, Francis M Giardiello, G Johan A Offerhaus

Journal: World J. Gastroenterol.. 2011 Nov;17(44):4839-44.

 

Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile ...

Last Updated: 15 Dec 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.