STK11 status and intussusception risk in Peutz-Jeghers syndrome.
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 mutation detected, at 14.7 years and 16.4 years, respectively (log-rank test of difference, chi(2) = 0.58, with 1df; p = 0.45). Similarly no differences were observed between patient groups on the basis of the type or site of STK11 mutation.


CONCLUSIONS
The risk of intussusception in PJS is not influenced by STK11 mutation status.
Hearle
N
N
Schumacher
V
V
Menko
F H
FH
Olschwang
S
S
Boardman
L A
LA
Gille
J J P
JJ
Keller
J J
JJ
Westerman
A M
AM
Scott
R J
RJ
Lim
W
W
Trimbath
J D
JD
Giardiello
F M
FM
Gruber
S B
SB
Offerhaus
G J A
GJ
Rooij
F W M D E
FW
Wilson
J H P
JH
Hansmann
A
A
Möslein
G
G
Royer-Pokora
B
B
Vogel
T
T
Phillips
R K S
RK
Spigelman
A D
AD
Houlston
R S
RS
D000091162:AMP-Activated Protein Kinase Kinases; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007443:Intussusception / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012307:Risk Factors
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases