CDKN2A mutation surveillance leads to earlier pancreatic cancer detection
Surveillance of patients carrying the CDKN2A gene mutation led to earlier detection of pancreatic ductal adenocarcinoma which improved disease prognosis, according to a presenter at UEG Week.
“Early detection of pancreatic cancer is essential to improve the poor prognosis. However, screening is not recommended for the general population at this time because the incidence is too low and this will most likely result in a large number of false positives; screening is only recommended in high-risk groups,” DCF Klatte, MD, of Leiden University Medical Center, said. “High-risk groups are familial pancreatic cancer kindreds but also genetic mutation carriers. These include CDKN2A, also called p16. These p16 mutation carriers have a 15% to 20% lifetime risk of developing pancreatic cancer. That is why they are offered surveillance.”
To evaluate the yield and outcomes of 20-year perspective surveillance, researchers followed 344 subjects (median age at enrollment, 48.7 years; 41.9% men) who carried the CDKN2A gene mutation. Subjects underwent MRI or magnetic resonance cholangiopancreatography annually as well as optional endoscopic ultrasound. Cases of new or indeterminate lesions resulted in shortened surveillance intervals (3-6 months) or EUS-guided sampling; surgical resection occurred when lesions were deemed malignant by a multidisciplinary team. They further performed Kaplan-Meyer analysis to determine cumulative incidence and survival.
Researchers diagnosed 35 cases of pancreatic cancer among 9% of subjects and secondary pancreatic cancer among 11.4%; the median age at diagnosis was 60 years with 30.6% of lesions detected at first screening and 82.9% radiologically resectable at the time of detection. The incidence rate was 15.1 cases (95% CI, 10.3-21.3) per 1,000 person-years at risk. This corresponded with a cumulative incidence of 7.4% by age 60 years and 31.6% by age 75 years. Following a primary pancreatic ductal adenocarcinoma diagnosis, the median survival time was 22 months with survival rates of 83.6% after 1 year and 33.9% after 5 years. Surgical resection boosted the 5-year survival rate to 46.2%.
“Pancreatic surveillance in p16 mutation carriers leads to detection of early stage T1N0M0 resectable pancreatic ductal adenocarcinoma with improved prognosis,” Klatte concluded.