Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians

Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians

Objective: The aim of the current review is to summarize the available evidence to aid clinicians in the surveillance, treatment and follow-up of the different primary tumors developed by patients diagnosed with von Hippel-Lindau (VHL) syndrome. Methods: A non-systematic narrative review of original...

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Main Authors: Alessandro Larcher, Federico Belladelli, Giuseppe Fallara, Isaline Rowe, Umberto Capitanio, Laura Marandino, Daniele Raggi, Jody Filippo Capitanio, Michele Bailo, Rosangela Lattanzio, Costanza Barresi, Sonia Francesca Calloni, Maurizio Barbera, Valentina Andreasi, Giorgia Guazzarotti, Giovanni Pipitone, Paola Carrera, Andrea Necchi, Pietro Mortini, Francesco Bandello, Andrea Falini, Stefano Partelli, Massimo Falconi, Francesco De Cobelli, Andrea Salonia
Format: Article
Language:English
Published: Elsevier 2022-10-01
Series:Asian Journal of Urology
Subjects:
Von Hippel-Lindau disease
Rare tumor
Genetic syndrome
Clear cell renal cell carcinoma
Online Access:http://www.sciencedirect.com/science/article/pii/S2214388222000996
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Summary:Objective: The aim of the current review is to summarize the available evidence to aid clinicians in the surveillance, treatment and follow-up of the different primary tumors developed by patients diagnosed with von Hippel-Lindau (VHL) syndrome. Methods: A non-systematic narrative review of original articles, meta-analyses, and randomized trials was conducted, including articles in the pre-clinical setting to support relevant findings. Results: VHL disease is the most common rare hereditary disorder associated with clear cell renal cell carcinoma. Affected individuals inherit a germline mutation in one VHL allele, and any somatic event that disrupt the other allele can trigger mutations, chromosomal rearrangements, or epigenetic regulations leading to oncogenesis. From a clinical perspective, patients continuously develop multiple primary tumors. Conclusion: Because VHL is considered a rare disease, very limited evidence is available for diagnosis, surveillance, active treatment with local or systemic therapy and follow-up.
ISSN:2214-3882

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