Alternative titles and symbols : Polyposis, juvenile intestinal; Juvenile intestinal polyposis; Polyposis, familial, of entire gastrointestinal tract; PJI; JIP;
Included titles and symbols : Juvenile polyposis of stomach; Juvenile polyposis coli;
Description : 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
(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,
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.;