Pancreatic Cancer Surveillance in Carriers of a Germline Pathogenic Variant in CDKN2A .

Cancers(2023)

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摘要
Three percent of patients with pancreatic ductal adenocarcinoma (PDAC) present a germline pathogenic variant (GPV) associated with an increased risk of this tumor, being one of the genes associated with the highest risk. There is no clear consensus on the recommendations for surveillance in GPV carriers, although the latest guidelines from the International Cancer of the Pancreas Screening Consortium recommend annual endoscopic ultrasound (EUS) or magnetic resonance imaging (MRI) regardless of family history. Our aim is to describe the findings of the PDAC surveillance program in a cohort of healthy GPV heterozygotes. This is an observational analysis of prospectively collected data from all carriers who underwent screening for PDAC at the high-risk digestive cancer clinic of the "Hospital Clínic de Barcelona" between 2013 and 2021. A total of 78 subjects were included. EUS or MRI was performed annually with a median follow-up of 66 months. Up to 17 pancreatic findings were described in 16 (20.5%) individuals under surveillance, although most of them were benign. No significant precursor lesions were identified, but an early PDAC was detected and treated. While better preventive strategies are developed, we believe that annual surveillance with EUS and/or MRI in GPV heterozygotes may be beneficial.
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关键词
CDKN2A,hereditary,pancreatic cancer,surveillance
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