FaCD Online Syndrome Fact Sheet

Last updated: 25 Mar 2008

Name: Juvenile Polyposis

Synonym: incl.: Juvenile Polyposis of the Stomach

Mode of Inheritance: AD

OMIM number: 174900  


BMPR1A, mapped to 10q22.3
ENG, mapped to 9q34.1
PTEN, mapped to 10q23.3
SMAD4/DPC4, mapped to 18q21.1

Tumor features

colorectal hamartomatous polyps
gastric hamartomatous polyps
gastrointestinal cancer
gastrointestinal hamartomas
gastrointestinal polyps, juvenile type
hamartomatous polyps in small intestine
pancreatic adenocarcinoma

Tumor features (possible)

neurofibroma, general

Non-tumor features

mucocutaneous telangiectasia


Multiple hamartous polyps (sometimes with adenomatous changes[1;2]), lacking smooth muscle, of stomach, small intestine, colon and rectum are the hallmarks of this disorder (JP). Rectal bleeding is the usual presentation in childhood. As opposed to the single sporadic juvenile polyp, juvenile polyposis is associated with an increased risk of colorectal (50-70 % lifetime risk ?), gastric, small bowel and pancreatic cancer[1-12,28].

A number of patients/families have been reported with predominantly gastric involvement (hamartomas as well as carcinomas)[13;14]. It is presently unclear whether or not this represents a separate genetic entity. Patients with gastric juvenile polyposis, initially classified as hyperplastic polyposis, in the presence of germline SMAD4 mutations have been observed[31].
Juvenile polyposis associated with neurofibromatosis [15;16] or hereditary hemorrhagic telangiectasia[17] has been reported a few times. JP has been reported as sporadic cases as well as affected multigeneration families, approximately 20-50% of JP patients have a positive family history. Juvenile polyps may be asymptomatic, so a family history may be false negative[18]. An association of JP with hereditary hemorrhagic telangiectasia has been observed in a few cases[19]. Juvenile polyposis is genetically heterogeneous with mutations in SMAD4[20-23,28], PTEN[24,28], BMPR1A[25,28] and ENG[30]. Other as yet unidentified genes may be involved too. Differential diagnosis includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Gorlin syndrome and familial mixed polyposis. Woodford-Richens et al.[26] conclude that mutations in PTEN, PTCH and SMAD4 are unlikely to cause juvenile polyposis if clinical features suggestive of the first three of these syndromes are absent. With respect to the differential diagnosis: the hamartous polyps in Peutz-Jeghers syndrome differ from those in juvenile polyposis: PJS polyps contain smooth muscle.

Diagnostic criteria[10;17]:
at least one of the following:

  • a) 3 or more juvenile type colonic polyps (usually 50-200 are observed)
  • b) juvenile polyps throughout the gastrointestinal tract
  • c) any number of juvenile polyps in a patient with a family history of juvenile polyposis


The Network for Peutz Jeghers and Juvenile Polyposis Syndrome 24 1 08


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