Pancreatic Cancer Surveillance in Carriers of a Germline Pathogenic Variant in <i>CDKN2A</i>

Three percent of patients with pancreatic ductal adenocarcinoma (PDAC) present a germline pathogenic variant (GPV) associated with an increased risk of this tumor, <i>CDKN2A</i> being one of the genes associated with the highest risk. There is no clear consensus on the recommendations fo...

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Bibliographic Details
Main Authors: Joan Llach, Paula Aguilera, Ariadna Sánchez, Angels Ginès, Glòria Fernández-Esparrach, Guillem Soy, Oriol Sendino, Eva Vaquero, Sabela Carballal, Fabio Ausania, Juan Ramón Ayuso, Anna Darnell, María Pellisé, Sergi Castellví-Bel, Susana Puig, Francesc Balaguer, Leticia Moreira
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Cancers
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Online Access:https://www.mdpi.com/2072-6694/15/6/1690
Description
Summary:Three percent of patients with pancreatic ductal adenocarcinoma (PDAC) present a germline pathogenic variant (GPV) associated with an increased risk of this tumor, <i>CDKN2A</i> being one of the genes associated with the highest risk. There is no clear consensus on the recommendations for surveillance in <i>CDKN2A</i> 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 <i>CDKN2A</i> GPV heterozygotes. This is an observational analysis of prospectively collected data from all <i>CDKN2A</i> 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 <i>CDKN2A</i> GPV heterozygotes may be beneficial.
ISSN:2072-6694