Von Hippel–Lindau disease-associated renal cell carcinoma: a call to action. Issue 1 (January 2022)

• Record Type: Journal Article
• Authors: Larcher, Alessandro; Rowe, Isaline; Belladelli, Federico; Fallara, Giuseppe; Raggi, Daniele; Necchi, Andrea; Montorsi, Francesco; Capitanio, Umberto; Salonia, Andrea
• Is Part Of: Current opinion in urology. Volume 32:Issue 1(2022)
• Publication Date: 2022-01
• Subjects: clear cell renal cell carcinoma -- hereditary renal cancer syndromes -- von Hippel–Lindau disease; Urology -- Periodicals; Review Literature -- Bibliography; Review Literature -- Periodicals; Male Urogenital Diseases -- Bibliography; Male Urogenital Diseases -- Periodicals; Female Urogenital Diseases -- Bibliography; Female Urogenital Diseases -- Periodicals; Urologic Diseases -- Bibliography; Urologic Diseases -- Periodicals; Periodicals; 616.6005
• DOI: 10.1097/MOU.0000000000000950
• Languages: English
• ISSNs: 1473-6586

Abstract

Abstract : Purpose of review: 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. Recent findings: 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. Summary: To date, preclinical and clinical research on the topic is scarce and clinical guidelines are not supported by strong validation studies.