Frequency and spectrum of cancers in the Peutz-Jeghers syndrome.
BACKGROUND
Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/LKB1 (serine/threonine kinase) mutation status are limited.


METHODS
We analyzed the incidence of cancer in 419 individuals with Peutz-Jeghers syndrome, and 297 had documented STK11/LKB1 mutations.


RESULTS
Ninety-six cancers were found among individuals with Peutz-Jeghers syndrome. The risk for developing cancer at ages 20, 30, 40, 50, 60, and 70 years was 2%, 5%, 17%, 31%, 60%, and 85%, respectively. The most common cancers represented in this analysis were gastrointestinal in origin, gastroesophageal, small bowel, colorectal, and pancreatic, and the risk for these cancers at ages 30, 40, 50, and 60 years was 1%, 9%, 15%, and 33%, respectively. In women with Peutz-Jeghers syndrome, the risk of breast cancer was substantially increased, being 8% and 31% at ages 40 and 60 years, respectively. Kaplan-Meier analysis showed that cancer risks were similar in Peutz-Jeghers syndrome patients with identified STK11/LKB1 mutations and those with no detectable mutation (log-rank test of difference chi2 = 0.62; 1 df; P = 0.43). Furthermore, the type or site of STK11/LKB1 mutation did not significantly influence cancer risk.


CONCLUSIONS
The results from our study provide quantitative information on the spectrum of cancers and risks of specific cancer types associated with Peutz-Jeghers syndrome.
Hearle
Nicholas
N
Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom.
Schumacher
Valérie
V
Menko
Fred H
FH
Olschwang
Sylviane
S
Boardman
Lisa A
LA
Gille
Johan J P
JJ
Keller
Josbert J
JJ
Westerman
Anne Marie
AM
Scott
Rodney J
RJ
Lim
Wendy
W
Trimbath
Jill D
JD
Giardiello
Francis M
FM
Gruber
Stephen B
SB
Offerhaus
G Johan A
GJ
de Rooij
Felix W M
FW
Wilson
J H Paul
JH
Hansmann
Anika
A
Möslein
Gabriela
G
Royer-Pokora
Brigitte
B
Vogel
Tilman
T
Phillips
Robin K S
RK
Spigelman
Allan D
AD
Houlston
Richard S
RS
D000091162:AMP-Activated Protein Kinase Kinases; D000328:Adult; D017668:Age of Onset; D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D010580:Peutz-Jeghers Syndrome / Q000150:complications* / 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