Gómez-Virgilio, L.; Velazquez-Paniagua, M.; Cuazozon-Ferrer, L.; Silva-Lucero, M.-D. C.; Padilla-Mendoza, J.-R.; Borbolla-Vázquez, J.; Díaz-Hernández, J.-A.; Jiménez-Orozco, F.-A.; Cardenas-Aguayo, M.-D.-C. Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics. Preprints2024, 2024061103. https://doi.org/10.20944/preprints202406.1103.v1
APA Style
Gómez-Virgilio, L., Velazquez-Paniagua, M., Cuazozon-Ferrer, L., Silva-Lucero, M. D. C., Padilla-Mendoza, J. R., Borbolla-Vázquez, J., Díaz-Hernández, J. A., Jiménez-Orozco, F. A., & Cardenas-Aguayo, M. D. C. (2024). Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics. Preprints. https://doi.org/10.20944/preprints202406.1103.v1
Chicago/Turabian Style
Gómez-Virgilio, L., Fausto-Alejandro Jiménez-Orozco and Maria-del-Carmen Cardenas-Aguayo. 2024 "Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics" Preprints. https://doi.org/10.20944/preprints202406.1103.v1
Abstract
Von Hippel-Lindau disease (VHL) is a multiple organ neoplastic syndrome with autosomal dominant transmission, complete penetrance, and variable expression caused by mutations in the VHL gene. Although VHL disease is hereditary in many cases, new mutations cause up to 20 % of the incidence. Mutations in VHL may cause the development of cysts and tumors in many organs, including brain and spinal cord hemangioblastoma, renal cell carcinoma (RCC), retinal heman-gioblastoma (RH), pheochromocytoma, epididymal and broad ligament cystadenomas, endo-lymphatic sac tumor, pancreatic neuroendocrine tumors, and renal and pancreatic cysts. VHL is a syndrome associated with functional inactivation of the Von Hippel–Lindau protein (pVHL). pVHL is a tumor suppressor mainly known for its role as a regulator of hypoxia-inducible factor (HIF) activity. The prevalence of VHL disease is between 1 in 39 000 and 1 in 91 000 individuals in different regional populations. Here, we review the etiology, epidemiology, pathophysiology, genetics, clinical manifestations, diagnosis, and current treatments, as well as the molecular aspects of this disease. We also discuss the animal models used to study this disease, VHL biomarkers, and current VHL clinical trials for VHL according to NIH.
Medicine and Pharmacology, Pathology and Pathobiology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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