Very high risk of cancer in familial Peutz-Jeghers syndrome

Citation
Fm. Giardiello et al., Very high risk of cancer in familial Peutz-Jeghers syndrome, GASTROENTY, 119(6), 2000, pp. 1447-1453
Citations number
82
Categorie Soggetti
Gastroenerology and Hepatology","da verificare
Journal title
GASTROENTEROLOGY
ISSN journal
00165085 → ACNP
Volume
119
Issue
6
Year of publication
2000
Pages
1447 - 1453
Database
ISI
SICI code
0016-5085(200012)119:6<1447:VHROCI>2.0.ZU;2-0
Abstract
Background & Aims: The Peutz-Jeghers syndrome (PJS) is an autosomal dominan t polyposis disorder with increased risk of multiple cancers, but literatur e 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 incr ease 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), panc reas (132; CL, 44, 261), lung (17.0; CL, 5.4, 39), breast (15.2; CL, 7.6, 2 7), 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 relativ e and absolute risk for gastrointestinal and nongastrointestinal cancers.