Purpose of reviewWhile 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.Recent findingsAlthough 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.SummaryTo date, preclinical and clinical research on the topic is scarce and clinical guidelines are not supported by strong validation studies.

Von Hippel-Lindau disease-associated renal cell carcinoma: a call to action / Larcher, Alessandro; Rowe, Isaline; Belladelli, Federico; Fallara, Giuseppe; Raggi, Daniele; Necchi, Andrea; Montorsi, Francesco; Capitanio, Umberto; Salonia, Andrea. - In: CURRENT OPINION IN UROLOGY. - ISSN 0963-0643. - 32:1(2022), pp. 31-39. [10.1097/MOU.0000000000000950]

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

Larcher, Alessandro
Primo
;
Belladelli, Federico;Fallara, Giuseppe;Necchi, Andrea;Montorsi, Francesco;Salonia, Andrea
Ultimo
2022-01-01

Abstract

Purpose of reviewWhile 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.Recent findingsAlthough 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.SummaryTo date, preclinical and clinical research on the topic is scarce and clinical guidelines are not supported by strong validation studies.
2022
clear cell renal cell carcinoma
hereditary renal cancer syndromes
von Hippel-Lindau disease
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11768/144276
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