Aaron R. Hochberg

Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA

Patrick T. Gomella

Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA

Brian H. Im

Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA

Anushka Ghosh

Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA

Sohan Shah

Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA

Kevin K. Zarrabi

Department of Medical Oncology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA

Mihir S. Shah

Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA

J. Ryan Mark

Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA

Joseph K. Izes

Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA

Costas D. Lallas

Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA

Leonard G. Gomella

Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA

Adam R. Metwalli

Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA

Keywords

Hemangioblastoma, pancreatic neuroendocrine tumors (pNETs), Pheochromocytoma, Renal Cell Carcinoma, von Hippel-Lindau disease

Abstract

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 neuro-endocrine 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.

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