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

Susanne E. Korsse, Femme Harinck, Margot G F van Lier, Katharina Biermann, G. Johan A Offerhaus, Nanda Krak, Caspar W N Looman, Wendy van Veelen, Ernst J. Kuipers, Anja Wagner, Evelien Dekker, Elisabeth M H Mathus-Vliegen, Paul Fockens, Monique E. van Leerdam, Marco J. Bruno

Research output: Contribution to journalArticlepeer-review

50 Scopus citations


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

Original languageEnglish (US)
Pages (from-to)59-64
Number of pages6
JournalJournal of Medical Genetics
Issue number1
StatePublished - Jan 2013
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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