Very High Risk of Cancer in Familial Peutz-Jeghers Syndrome

Gastroenterology. 2000 Dec;119(6):1447-53. doi: 10.1053/gast.2000.20228.

Abstract

Background & aims: 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.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Digestive System Neoplasms / etiology
  • Female
  • Genital Neoplasms, Female / etiology
  • Humans
  • Lung Neoplasms / etiology
  • Male
  • Middle Aged
  • Neoplasms / etiology*
  • Peutz-Jeghers Syndrome / complications*
  • Risk Factors