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

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

doi:10.3390/cancers15061690

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

Cancers (Basel). 2023 Mar 9;15(6):1690. doi: 10.3390/cancers15061690.

Authors

Joan Llach^{1

2

3}, Paula Aguilera^{4

5}, Ariadna Sánchez^{1

2

3}, Angels Ginès^{1

2

3

6}, Glòria Fernández-Esparrach^{1

2

3

6}, Guillem Soy^{1

2

3}, Oriol Sendino^{1

2

3}, Eva Vaquero^{1

2

3}, Sabela Carballal^{1

2

3}, Fabio Ausania^{3

6

7}, Juan Ramón Ayuso^{3

8}, Anna Darnell^{3

8}, María Pellisé^{1

2

3

6}, Sergi Castellví-Bel^{2

3}, Susana Puig^{4

5}, Francesc Balaguer^{1

2

3

6}, Leticia Moreira^{1

2

3

6}

Affiliations

¹ Department of Gastroenterology, Hospital Clínic Barcelona, University of Barcelona, 08036 Barcelona, Spain.
² Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), 08036 Barcelona, Spain.
³ IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona (UB), 08036 Barcelona, Spain.
⁴ Dermatology Department, Hospital Clínic Barcelona, University of Barcelona, 08036 Barcelona, Spain.
⁵ Centro de Investigación Biomédica en Red de Enfermedades Raras Instituto de Salud Carlos III, 08036 Barcelona, Spain.
⁶ Facultat de Medicina I Ciències de la Salut, Universitat de Barcelona (UB), 08036 Barcelona, Spain.
⁷ Department of General and Digestive Surgery, Hospital Clínic Barcelona, University of Barcelona, 08036 Barcelona, Spain.
⁸ Department of Radiology, Hospital Clínic Barcelona, University of Barcelona, 08036 Barcelona, Spain.

Abstract

Three percent of patients with pancreatic ductal adenocarcinoma (PDAC) present a germline pathogenic variant (GPV) associated with an increased risk of this tumor, CDKN2A being one of the genes associated with the highest risk. There is no clear consensus on the recommendations for surveillance in CDKN2A 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 CDKN2A GPV heterozygotes. This is an observational analysis of prospectively collected data from all CDKN2A 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 CDKN2A GPV heterozygotes may be beneficial.

Keywords: CDKN2A; hereditary; pancreatic cancer; surveillance.

Grants and funding

This research received no external funding. J.L. was awarded two fellowships: Beca iniciacio a la recerca from Societat Catalana de Digestologia and Emili Letang—Josep Font grant from Hospital Clinic Barcelona.