STK11 status and intussusception risk in Peutz-Jeghers syndrome.

ABSTRACT:

Background

Peutz-Jeghers syndrome (PJS) is caused by germline STK11 mutations and characterised by gastrointestinal polyposis. Although small bowel intussusception is a recognised complication of PJS, risk varies between patients.

Objective

To analyse the time to onset of intussusception in a large series of PJS probands.

Methods

STK11 mutation status was evaluated in 225 PJS probands and medical histories of the patients reviewed.

Results

135 (60%) of the probands possessed a germline STK11 mutation; 109 (48%) probands had a history of intussusception at a median age of 15.0 years but with wide variability (range 3.7 to 45.4 years). Median time to onset of intussusception was not significantly different between those with identified mutations and those with no

SUBMITTER: Hearle N 

PROVIDER: S-EPMC2564597 | biostudies-literature | 2006 Aug

REPOSITORIES: biostudies-literature