STK11 status and intussusception risk in Peutz-Jeghers syndrome Hearle, V Schumacher, F H Menko, S Olschwang,

Background: Peutz-Jeghers syndrome (PJS) is caused bygermline STK11 mutations and characterised by gastro-intestinal polyposis. Although small bowel intussusception isa recognised complication of PJS, risk varies betweenpatients.Objective: To analyse the time to onset of intussusception in alarge series of PJS probands.Methods: STK11 mutation status was evaluated in 225 PJSprobands and medical histories of the patients reviewed.Results: 135 (60%) of the probands possessed a germlineSTK11 mutation; 109 (48%) probands had a history ofintussusception at a median age of 15.0 years but with widevariability (range 3.7 to 45.4 years). Median time to onset ofintussusception was not significantly different between thosewith identified mutations and those with no mutationdetected, at 14.7 years and 16.4 years, respectively (log-rank test of difference, x