Von Hippel-Lindau disease-associated renal cell carcinoma: a call to action.

While the molecular and genetic bases of Von Hippel-Lindau (VHL) disease have been extensively investigated, limited evidence is available to guide diagnosis, local or systemic therapy, and follow-up. The aim of the current review is to summarize the ongoing trials both in preclinical and clinical setting regarding VHL disease management.

Although genotype/phenotype correlations have been described, there is considerable inter and intra-familiar heterogeneity in VHL disease. Genetic anticipation has been reported in VHL disease. From a clinical point of view, expert-opinion-based protocols suggest testing those patients with any blood relative of an individual diagnosed with VHL disease, those with at least 1 or more suggestive neoplasms or patients presenting with clear cell renal cell carcinoma (ccRCC) diagnosed at a less than 40 years old, and/or multiple ccRCC. Clinical research is focused on safety and efficacy of systemic agents for patients with VHL-related ccRCC, with the aim to possibly preserve kidney function and improve patient survival.

To date, preclinical and clinical research on the topic is scarce and clinical guidelines are not supported by strong validation studies.

Current opinion in urology. 2021 Nov 15 [Epub ahead of print]

Alessandro Larcher, Isaline Rowe, Federico Belladelli, Giuseppe Fallara, Daniele Raggi, Andrea Necchi, Francesco Montorsi, Umberto Capitanio, Andrea Salonia, OSR VHL Program

Division of Experimental Oncology, Department of Urology, URI - Urological Research Institute Division of Experimental Oncology, Department of Clinical Oncology, IRCCS Ospedale San Raffaele, Milan, Italy.