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携带种系致病变体的个体中的胰腺癌监测

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

作者信息

Llach Joan, Aguilera Paula, Sánchez Ariadna, Ginès Angels, Fernández-Esparrach Glòria, Soy Guillem, Sendino Oriol, Vaquero Eva, Carballal Sabela, Ausania Fabio, Ayuso Juan Ramón, Darnell Anna, Pellisé María, Castellví-Bel Sergi, Puig Susana, Balaguer Francesc, Moreira Leticia

机构信息

Department of Gastroenterology, Hospital Clínic Barcelona, University of Barcelona, 08036 Barcelona, Spain.

Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), 08036 Barcelona, Spain.

出版信息

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

Abstract

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.

摘要

3%的胰腺导管腺癌(PDAC)患者存在与该肿瘤风险增加相关的种系致病变体(GPV),是风险最高的相关基因之一。对于GPV携带者的监测建议尚无明确共识,尽管国际胰腺癌筛查联盟的最新指南建议无论家族史如何,每年进行内镜超声(EUS)或磁共振成像(MRI)检查。我们的目的是描述一组健康的GPV杂合子队列中PDAC监测项目的结果。这是一项对2013年至2021年间在“巴塞罗那临床医院”高危消化系统癌症诊所接受PDAC筛查的所有携带者的前瞻性收集数据进行的观察性分析。共纳入78名受试者。每年进行EUS或MRI检查,中位随访时间为66个月。在16名(20.5%)接受监测的个体中,共描述了17个胰腺检查结果,尽管其中大多数为良性。未发现明显的癌前病变,但检测到并治疗了一例早期PDAC。在制定更好的预防策略的同时,我们认为对GPV杂合子每年进行EUS和/或MRI监测可能有益。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5cb0/10046865/5fd66ca79d6e/cancers-15-01690-g001.jpg

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