TY - JOUR
T1 - Pancreatic cancer risk in Peutz-Jeghers syndrome patients
T2 - A large cohort study and implications for surveillance
AU - Korsse, Susanne E.
AU - Harinck, Femme
AU - van Lier, Margot G F
AU - Biermann, Katharina
AU - Offerhaus, G. Johan A
AU - Krak, Nanda
AU - Looman, Caspar W N
AU - van Veelen, Wendy
AU - Kuipers, Ernst J.
AU - Wagner, Anja
AU - Dekker, Evelien
AU - Mathus-Vliegen, Elisabeth M H
AU - Fockens, Paul
AU - van Leerdam, Monique E.
AU - Bruno, Marco J.
PY - 2013/1
Y1 - 2013/1
N2 - 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
AB - 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
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U2 - 10.1136/jmedgenet-2012-101277
DO - 10.1136/jmedgenet-2012-101277
M3 - Article
C2 - 23240097
AN - SCOPUS:84872129624
SN - 0022-2593
VL - 50
SP - 59
EP - 64
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
IS - 1
ER -