Pancreatic cancer risk in PJS - report from Netherlands

Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study

and implications for surveillance.

This recent report from the Netherlands follows 144 PJS patients for a combined total of 5640 person years. Seven patients developed pancreatic cancer and four patients were diagnosed with biliary duct or ampullary cancer.

From this data, the authors were able to estimate the risk of pancreatico-biliary cancer as 32% by age 70. This is 96 times the rate of pancreatic cancer for a person in the general population.

The authors also note in Table 1, Baseline characteristics of the Dutch PJS Cohort, that 48 of their 144 patients (33%) had died at the median age of 46 years and the median age of the 90 surviving patients was 37 years old. (note, six patients were lost to follow-up).

Based on the results of our current study, we recommend that PJS patients should be offered surveillance regardless of family history for PC, since all subjects with PC in our series had a negative family history of PC. Although the median age of PC onset in our cohort was 54 years, we propose that surveillance starts at the age of 30 years. This suggestion is based on the fact that two patients in our series developed cancer in the pancreatico-biliary region at a very young age (ages 35 and 36).

jump to article abstract –

Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study

and implications for surveillance.

Korsse SE, Harinck F, van Lier MG, Biermann K, Offerhaus GJ, Krak N, Looman CW,

van Veelen W, Kuipers EJ, Wagner A, Dekker E, Mathus-Vliegen EM, Fockens P, van

Leerdam ME, Bruno MJ.

Department of Gastroenterology & Hepatology, Erasmus MC University Medical

Centre, Rotterdam, The Netherlands. s.korsse@erasmusmc.nl

J Med Genet. 2013 Jan;50(1):59-64. doi: 10.1136/jmedgenet-2012-101277.

PMID: 23240097 

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="" 11="" 32="" 52="" age="" at="" cancer="" ci="" cumulative="" for="" o:p="" pancreatico-biliary="" risk="" the="" to="" was="">

70 years, with a relative risk of 96 (95% CI 53 to 174; p<0 .001="" o:p="">

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.