Blanco Abad Carmen, Gomila Pons Paula, Campos Ramírez Sara, Álvarez Alejandro María, Torres Ramón María Irene, Miramar Gallart María Dolores, Izquierdo Álvarez Silvia, Polo Marques Eduardo, Pazo Cid Roberto
Medical Oncology Department, Hospital Universitario Miguel Servet, 50012 Zaragoza, Spain.
Aragon Institute of Health Sciences (IIS-A), 50012 Zaragoza, Spain.
J Clin Med. 2025 Jan 9;14(2):367. doi: 10.3390/jcm14020367.
: Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal malignancy with a five-year survival rate of approximately 13% for advanced stages. While the majority of PDAC cases are sporadic, a significant subset is attributable to hereditary and familial predispositions, accounting for approximately 25% of cases. This article synthesizes recent advancements in the understanding, detection, and management of hereditary pancreatic cancer (PC). : Our review highlights the critical role of genetic testing (GT) in identifying high-risk individuals (HRIs), with germline pathogenic variants (PVs) found in up to 20% of hereditary PDAC cases. Since the implementation of next-generation sequencing (NGS) panels in 2014, detection capabilities have been significantly enhanced. HRIs can be included in screening programs that facilitate the early detection of PDAC. Early detection strategies, including the use of microribonucleic acid (miRNAs) signatures and novel imaging techniques like hyperpolarized 13C-magnetic resonance spectroscopy (MRS) have shown promising results. The identification of germline pathogenic variants (PVs) or mutations in homologous recombination (HR) genes plays a predictive role in the response to various treatments, prolonging patient survival. : Universal germline testing for PDAC, as recommended by the National Comprehensive Cancer Network (NCCN), is now a standard practice, facilitating the identification of at-risk individuals and enabling targeted surveillance and intervention. Multidisciplinary management, integrating genetic counseling, imaging, and gastrointestinal services, is essential for optimizing outcomes. : Advances in genetic testing and biomarker research are transforming the landscape of hereditary PC management. Early detection and personalized treatment strategies are pivotal in improving survival rates. Ongoing multi-institutional research efforts are crucial for validating biomarkers and developing preventive measures, ultimately aiming to reduce the burden of this aggressive cancer.
胰腺导管腺癌（PDAC）是一种高度致命的恶性肿瘤，晚期患者的五年生存率约为13%。虽然大多数PDAC病例是散发性的，但相当一部分可归因于遗传和家族易感性，约占病例的25%。本文综述了遗传性胰腺癌（PC）在认识、检测和管理方面的最新进展。
我们的综述强调了基因检测（GT）在识别高危个体（HRIs）中的关键作用，在高达20%的遗传性PDAC病例中发现了种系致病变异（PVs）。自2014年实施下一代测序（NGS）面板以来，检测能力得到了显著提高。高危个体可纳入有助于早期检测PDAC的筛查项目。早期检测策略，包括使用微小核糖核酸（miRNAs）特征和超极化13C磁共振波谱（MRS）等新型成像技术，已显示出有希望的结果。种系致病变异（PVs）或同源重组（HR）基因中的突变的鉴定在对各种治疗的反应中起预测作用，可延长患者生存期。
按照美国国立综合癌症网络（NCCN）的建议，对PDAC进行普遍的种系检测现已成为标准做法，有助于识别高危个体并进行有针对性的监测和干预。整合遗传咨询、成像和胃肠病服务的多学科管理对于优化治疗结果至关重要。
基因检测和生物标志物研究的进展正在改变遗传性PC的管理格局。早期检测和个性化治疗策略对于提高生存率至关重要。正在进行的多机构研究工作对于验证生物标志物和制定预防措施至关重要，最终目标是减轻这种侵袭性癌症的负担。
