Very high risk of cancer in familial Peutz-Jeghers syndrome.
OBJECTIVE
The Peutz-Jeghers syndrome (PJS) is an autosomal dominant polyposis disorder with increased risk of multiple cancers, but literature estimates of risk vary.


METHODS
We performed an individual patient meta-analysis to determine the relative risk (RR) of cancer in patients with PJS compared with the general population based on 210 individuals described in 6 publications.


RESULTS
For patients with PJS, the RR for all cancers was 15.2 (95% confidence limits [CL], 2, 19). A statistically significant increase of RR was noted for esophagus (57; CL, 2.5, 557), stomach (213; CL, 96, 368), small intestine (520; CL, 220, 1306), colon (84; CL, 47, 137), pancreas (132; CL, 44, 261), lung (17.0; CL, 5.4, 39), breast (15.2; CL, 7.6, 27), uterus (16.0; CL, 1.9, 56), ovary (27; CL, 7.3, 68), but not testicular or cervical malignancies. Cumulative risk for all cancer was 93% from age 15 to 64 years old.


CONCLUSIONS
Patients with PJS are at very high relative and absolute risk for gastrointestinal and nongastrointestinal cancers.
Giardiello
F M
FM
Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Brensinger
J D
JD
Tersmette
A C
AC
Goodman
S N
SN
Petersen
G M
GM
Booker
S V
SV
Cruz-Correa
M
M
Offerhaus
J A
JA
D000293:Adolescent; D000328:Adult; D004067:Digestive System Neoplasms / Q000209:etiology; D005260:Female; D005833:Genital Neoplasms, Female / Q000209:etiology; D006801:Humans; D008175:Lung Neoplasms / Q000209:etiology; D008297:Male; D008875:Middle Aged; D009369:Neoplasms / Q000209:etiology*; D010580:Peutz-Jeghers Syndrome / Q000150:complications*; D012307:Risk Factors