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: 29 Jun 2015

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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.

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

Last Updated: 29 Jun 2015

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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 17 free, full-text research articles on human participants. First 3 results:

Overlap of Juvenile polyposis syndrome and Cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance.
 

Author(s): Adebisi Alimi, Lauren A Weeth-Feinstein, Amy Stettner, Freddy Caldera, Jennifer M Weiss

Journal: Am. J. Med. Genet. A. 2015 Jun;167(6):1305-8.

 

We describe a patient with a severe juvenile polyposis phenotype, due to a de novo deletion of chromosome 10q22.3-q24.1. He was initially diagnosed with Juvenile polyposis syndrome (JPS) at age four after presenting with hematochezia due to multiple colonic juvenile polyps. He then ...

Last Updated: 28 May 2015

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Identification of coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome.
 

Author(s): Junya Yamaguchi, Satoshi Nagayama, Akiko Chino, Ai Sakata, Noriko Yamamoto, Yuri Sato, Yuumi Ashihara, Mizuho Kita, Sachio Nomura, Yuichi Ishikawa, Masahiro Igarashi, Masashi Ueno, Masami Arai

Journal: Jpn. J. Clin. Oncol.. 2014 Oct;44(10):1004-8.

 

Juvenile polyposis syndrome is an autosomal dominant inherited disorder characterized by multiple juvenile polyps arising in the gastrointestinal tract and an increased risk of gastrointestinal cancers, specifically colon cancer. BMPR1A and SMAD4 germline mutations have been found ...

Last Updated: 2 Dec 2014

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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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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Hereditary Colorectal and Associated Tumor Registry Study
 

Status: Recruiting

Condition Summary: Lynch Syndrome; FAP; Hereditary Diffuse Gastric Cancer; Juvenile Polyposis Syndrome; Peutz-Jeghers Syndrome

 

Last Updated: 14 Jan 2016

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