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

Juvenile polyposis syndrome: An unusual case report of anemia and gastrointestinal bleeding in young infant.
 

Author(s): Yi-Han Hsiao, Chin-Hung Wei, Szu-Wen Chang, Lung Chang, Yu-Wei Fu, Hung-Chang Lee, Hsuan-Liang Liu, Chun-Yan Yeung

Journal: Medicine (Baltimore). 2016 Sep;95(37):e4550.

 

Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis ...

Last Updated: 16 Sep 2016

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Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.
 

Author(s): Lodewijk A A Brosens, G Johan Offerhaus, Marcia Irene F Canto, Elizabeth A Montgomery, Francis M Giardiello

Journal: Histopathology. 2016 Jan;68(2):313-5.

 

Last Updated: 15 Jan 2016

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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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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

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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Familial Investigations of Childhood Cancer Predisposition
 

Status: Not yet recruiting

Condition Summary: Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukaemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non Hodgkin Lymphoma; Noonan Syndrome and Other Rasopathy; Overgrowth Syndromes; Pancreatic Cancer; Peutz-Jeghers Syndrome; Pheochromocytoma/Paraganglioma; PTEN Hamartoma Tumor Syndrome; Retinoblastoma; Rhabdoid Tumor Predisposition Syndrome; Rhabdomyosarcoma; Rothmund-Thomson Syndrome; Tuberous Sclerosis; Von Hippel-Lindau Disease

 

Last Updated: 22 Feb 2017

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