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J Med Genet 50:59-64 doi:10.1136/jmedgenet-2012-101277
  • Screening

Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance

  1. Marco J Bruno1
  1. 1Department of Gastroenterology & Hepatology, Erasmus MC University Medical Centre, Rotterdam, The Netherlands
  2. 2Department of Pathology, Erasmus MC University Medical Centre, Rotterdam, The Netherlands
  3. 3Department of Pathology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
  4. 4Department of Pathology, University Medical Centre Utrecht, Utrecht, The Netherlands
  5. 5Department of Radiology, Erasmus MC University Medical Centre, Rotterdam, The Netherlands
  6. 6Department of Public Health, Erasmus MC University Medical Centre, Rotterdam, The Netherlands
  7. 7Department of Internal Medicine, Erasmus MC University Medical Centre, Rotterdam, The Netherlands
  8. 8Department of Clinical Genetics, Erasmus MC University Medical Centre, Rotterdam, The Netherlands
  9. 9Department of Gastroenterology & Hepatology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
  1. Correspondence to Susanne E Korsse, Department of Gastroenterology & Hepatology, Erasmus MC University Medical Centre, ‘s Gravendijkwal 230, Room Hs-306, 3015 CE Rotterdam, The Netherlands; s.korsse{at}erasmusmc.nl
  • Received 4 September 2012
  • Revised 1 November 2012
  • Accepted 2 November 2012

Abstract

Background Although Peutz-Jeghers syndrome (PJS) is known to be associated with pancreatic cancer (PC), estimates of this risk differ widely. This hampers counselling of patients and implementation of surveillance strategies. We therefore aimed to determine the PC risk in a large cohort of Dutch PJS patients.

Methods PJS was defined by diagnostic criteria recommended by the WHO, a proven LKB1 mutation, or both. All patients with a presumptive diagnosis of pancreatic, ampullary or distal bile duct cancer were identified. Cases were reviewed clinically, radiologically and immunohistochemically. Cumulative PC risks were calculated by Kaplan-Meier analysis and relative risks by Poisson regression analysis.

Results We included 144 PJS patients (49% male) from 61 families (5640 person years follow-up). Seven (5%) patients developed PC at a median age of 54 years. Four patients (3%) were diagnosed with distal bile duct (n=2) or ampullary cancer (n=2) at a median age of 55 years. The cumulative risk for PC was 26% (95% CI 4% to 47%) at age 70 years and relative risk was 76 (95% CI 36 to 160; p<0.001). The cumulative risk for pancreatico-biliary cancer was 32% (95% CI 11% to 52%) at age 70 years, with a relative risk of 96 (95% CI 53 to 174; p<0.001).

Conclusions PJS patients have a highly increased risk for pancreatico-biliary cancer. Therefore, patients are eligible for surveillance within well defined research programmes to establish the benefit of such surveillance.