西班牙家族性胰腺癌登记处(PANGENFAM):对胰腺癌高危人群的十年跟踪调查。

IF 1.8 4区 医学 Q3 GENETICS & HEREDITY Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-05-16 DOI:10.1007/s10689-024-00388-x
Julie Earl, Raquel Fuentes, María E Castillo Sanchez, Ana García García de Paredes, María Muñoz, Alfonso Sanjuanbenito, Eduardo Lobo, Alejandra Caminoa, Mercedes Rodríguez, Emma Barreto, Jorge Villalón López, Ignacio Ruz-Caracuel, Sergio López Durán, José Ramón Foruny Olcina, Bárbara Luna Sánchez, Sonia Camaño Páez, Ana Torres, Javier Blázquez, Enrique Vázquez Sequeros, Alfredo Carrato
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引用次数: 0

摘要

西班牙家族性胰腺癌登记处(PANGENFAM)成立于 2009 年,旨在描述家族性胰腺癌(FPC)的基因型和表型。此外,还为来自家族性胰腺癌和遗传性胰腺癌家族(一级亲属)的健康高危人群提供胰腺导管腺癌(PDAC)早期检测筛查项目。本文介绍了我们在过去 10 年中进行高风险筛查的经验。遗传性和家族性胰腺癌家族是通过肿瘤科和消化科确定的。高危人群从 40 岁起或比最年轻的患病家庭成员小 10 岁起,每年接受一次内镜超声波(EUS)和磁共振成像(MRI)筛查。结果:PANGENFAM 共纳入了来自 143 个家庭的 290 名患者,包括 52 例 PDAC 病例和 238 名高风险患者。所有符合筛查条件的高危人群均可参加监测计划,目前已有 143 人参加。94人(中位年龄53岁(29-83岁))被检测出胰腺异常,常见的检查结果包括囊性病变和不均匀的实质组织。成像检测的一致性为 66%。有 4 名高风险患者因成像检查发现高度可疑病变而接受了手术治疗。PANGENFAM 是生物库等科学创新的宝贵资源,其临床和成像数据可供分析。对于高风险家庭来说,它有可能提供早期诊断。我们需要与其他国家和国际注册机构合作,以加深我们对疾病生物学的了解,并统一纳入和随访标准,优化成本效益和疗效。
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The Spanish Familial Pancreatic Cancer Registry (PANGENFAM): a decade follow-up of individuals at high-risk for pancreatic cancer.

The Spanish Familial Pancreatic Cancer Registry (PANGENFAM) was established in 2009 and aims to characterize the genotype and phenotype of familial pancreatic cancer (FPC). Furthermore, an early detection screening program for pancreatic ductal adenocarcinoma (PDAC) is provided to healthy high-risk individuals from FPC and hereditary pancreatic cancer families (first-degree relatives). This article describes our experience over the last 10 years in high-risk screening. Hereditary and familial pancreatic cancer families were identified through the oncology and gastroenterology units. High-risk individuals underwent annual screening with endoscopic ultrasound (EUS) and magnetic resonance (MRI) from age 40 or 10 years younger than the youngest affected family member. Results: PANGENFAM has enrolled 290 individuals from 143 families, including 52 PDAC cases and 238 high-risk individuals. All high-risk individuals eligible for screening were offered to enter the surveillance program, with 143 currently participating. Pancreatic abnormalities were detected in 94 individuals (median age 53 years (29-83), with common findings including cystic lesions and inhomogeneous parenchyma. Imaging test concordance was 66%. Surgical intervention was performed in 4 high-risk individuals following highly suspicious lesions detected by imaging. PANGENFAM is a valuable resource for science innovation, such as biobanking, with clinical and imaging data available for analysis. For high-risk families, it may offer a potential for early diagnosis. Collaboration with other national and international registries is needed to increase our understanding of the disease biology and to standardize criteria for inclusion and follow-up, optimizing cost-effectiveness and efficacy.

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来源期刊
Familial Cancer
Familial Cancer 医学-遗传学
CiteScore
4.10
自引率
4.50%
发文量
36
审稿时长
6-12 weeks
期刊介绍: In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
期刊最新文献
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