Is the TriNetX Database a Good Tool for Investigation of Real-World Management of Von Hippel-Lindau?

Authors

• Aaron R Hochberg
• Patrick T Gomella
• Brian Im
• Anushka Ghosh
• Sohan Shah
• Rasheed A M Thompson
• Kevin K Zarrabi
• Mihir S Shah
• J Ryan Mark
• Joseph K Izes
• Costas D Lallas
• Leonard G Gomella
• Adam R Metwalli

Publication/Presentation Date

1-1-2024

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 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.

Volume

11

Issue

4

First Page

28

Last Page

38

ISSN

2203-5826

Published In/Presented At

Hochberg, A. R., Gomella, P. T., Im, B., Ghosh, A., Shah, S., Thompson, R. A. M., Zarrabi, K. K., Shah, M. S., Mark, J. R., Izes, J. K., Lallas, C. D., Gomella, L. G., & Metwalli, A. R. (2024). Is the TriNetX Database a Good Tool for Investigation of Real-World Management of Von Hippel-Lindau?. Journal of kidney cancer and VHL, 11(4), 28–38. https://doi.org/10.15586/jkcvhl.v11i4.324

Disciplines

Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods

PubMedID

39678829

Department(s)

Administration and Leadership

Document Type

Article