Hochberg Aaron R, Gomella Patrick T, Im Brian, Ghosh Anushka, Shah Sohan, Thompson Rasheed A M, Zarrabi Kevin K, Shah Mihir S, Mark J Ryan, Izes Joseph K, Lallas Costas D, Gomella Leonard G, Metwalli Adam R
Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Department of Medical Oncology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
J Kidney Cancer VHL. 2024 Dec 10;11(4):28-38. doi: 10.15586/jkcvhl.v11i4.324. eCollection 2024.
Von Hippel-Lindau (vHL) is a hereditary disease characterized by the development of benign and malignant tumors across multiple organ systems. It is seen in approximately 1 in 36,000 live births. Given that vHL is a rare disease, studies that seek to characterize vHL are often hampered by small sample sizes. The TriNetX database, which contains data from over 100 million patients, may offer the ability to define and describe a large number of vHL patients. The primary objectives of this study were to describe the prevalence of vHL-associated conditions and investigate clinical outcomes using TriNetX. The secondary objective was to compare the results of this analysis to what has been reported in the published vHL literature. TriNetX was queried to establish a cohort of patients with a diagnosis of vHL. This cohort was then used to define the prevalence of the following conditions: reproductive organ (epididymal and broad ligament) cystadenomas, renal cell carcinoma (RCC), pheochromocytomas, endolymphatic sac tumors (ESLTs), central nervous system (CNS) and retinal hemangioblastomas, and pancreatic neuroendocrine tumor (pNETs). A total of 1232 patients in TriNetX had a recorded diagnosis of vHL. Of this, 34 (6.0% of males) patients had epididymal cystadenoma, 21 (3.4% of females) had broad ligament cystadenoma, 352 (28.6%) had RCC, 251 (20.4%) had pheochromocytoma, <10 had ELST, 171 (13.9%) had CNS hemangioblastoma, 34 (2.8%) had pNETs, and 66 (5.4%) had retinal hemangioma. Compared to the existing literature, vHL and associated conditions are underdiagnosed in TriNetX, suggesting its limited use in studying this disease.
冯·希佩尔-林道（vHL）病是一种遗传性疾病，其特征是多个器官系统出现良性和恶性肿瘤。该病在每36000例活产婴儿中约有1例出现。鉴于vHL病是一种罕见疾病，旨在描述vHL病特征的研究常常因样本量小而受阻。TriNetX数据库包含来自超过1亿患者的数据，可能提供定义和描述大量vHL病患者的能力。本研究的主要目的是描述vHL相关病症的患病率，并使用TriNetX调查临床结果。次要目的是将该分析结果与已发表的vHL文献中所报道的结果进行比较。对TriNetX进行查询以建立一组诊断为vHL病的患者队列。然后利用该队列确定以下病症的患病率：生殖器官（附睾和阔韧带）囊腺瘤、肾细胞癌（RCC）、嗜铬细胞瘤、内淋巴囊瘤（ESLT）、中枢神经系统（CNS）和视网膜血管母细胞瘤，以及胰腺神经内分泌肿瘤（pNET）。TriNetX中共有1232例患者记录诊断为vHL病。其中，34例（占男性患者的6.0%）患有附睾囊腺瘤，21例（占女性患者的3.4%）患有阔韧带囊腺瘤，352例（28.6%）患有RCC，251例（20.4%）患有嗜铬细胞瘤，少于10例患有ESLT，171例（13.9%）患有CNS血管母细胞瘤，34例（2.8%）患有pNET，66例（5.4%）患有视网膜血管瘤。与现有文献相比，TriNetX中vHL病及相关病症的诊断不足，表明其在研究该疾病方面的用途有限。
