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High cancer risk and increased mortality in patients with Peutz–Jeghers syndrome
  1. Margot G F van Lier1,
  2. Anne Marie Westerman2,
  3. Anja Wagner3,
  4. Caspar W N Looman4,
  5. J H Paul Wilson2,
  6. Felix W M de Rooij2,
  7. Valery E P P Lemmens5,
  8. Ernst J Kuipers1,2,
  9. Elisabeth M H Mathus-Vliegen6,
  10. Monique E van Leerdam1
  1. 1Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
  2. 2Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
  3. 3Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
  4. 4Department of Public Health, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
  5. 5Department of Research, Comprehensive Cancer Centre South, Eindhoven, The Netherlands
  6. 6Department of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands
  1. Correspondence toM G F van Lier, MD, Department of Gastroenterology and Hepatology, Erasmus University Medical Center, Room Ba-393, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands; m.g.f.vanlier{at}


Background Peutz–Jeghers syndrome (PJS) is associated with an increased cancer risk. As the determination of optimal surveillance strategies is hampered by wide ranges in cancer risk estimates and lack of data on cancer-related mortality, we assessed cancer risks and mortality in a large cohort of patients with PJS.

Methods Dutch PJS patients were included in this cohort study. Patients were followed prospectively between January 1995 and July 2009, and clinical data from the period before 1995 were collected retrospectively. Data were obtained by interview and chart review. Cumulative cancer risks were calculated by Kaplan–Meier analysis and relative cancer and mortality risks by Poisson regression analysis.

Results We included 133 PJS patients (48% males) from 54 families, contributing 5004 person-years of follow-up. 49 cancers were diagnosed in 42 patients (32%), including 25 gastrointestinal (GI) cancers. The median age at first cancer diagnosis was 45 years. The cumulative cancer risk was 20% at age 40 (GI cancer 12%), increasing to 76% at age 70 (GI cancer 51%). Cumulative cancer risks were higher for females than for males (p=0.005). The relative cancer risk was higher in PJS patients than in the general population (HR 8.96; 95% CI 6.46 to 12.42), and higher among female (HR 20.40; 95% CI 13.43 to 30.99) than among male patients (HR 4.76; 95% CI 2.82 to 8.04). 42 patients had died at a median age of 45 years, including 28 cancer-related deaths (67%). Mortality was increased in our cohort compared to the general population (HR 3.50; 95% CI 2.57 to 4.75).

Conclusions PJS patients carry high cancer risks, leading to increased mortality. The malignancies occur particularly in the GI tract and develop at young age. These results justify surveillance in order to detect malignancies in an early phase to improve outcome.

  • Peutz–Jeghers syndrome
  • cancer
  • mortality
  • risk
  • cancer epidemiology
  • cancer susceptibility
  • cancer syndromes

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  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the The institutional Review Board of both participating hospitals.

  • Provenance and peer review Not commissioned; externally peer reviewed.