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

引用

Asian Journal of Urology 2022年第4期9卷 430-442页

作者： 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 Ospedale San Raffaele VHL Research Program MilanItaly URI-Urological Research Institute Department of UrologyDivision of Experimental OncologyIRCCS Ospedale San RaffaeleMilanItaly Universita Vita-Salute San Raffaele MilanItaly Department of Oncology IRCCS Ospedale San RaffaeleMilanItaly Department of Neurosurgery IRCCS Ospedale San RaffaeleMilanItaly Department of Ophthalmology IRCCS Ospedale San RaffaeleMilanItaly Department of Neuroradiology IRCCS Ospedale San RaffaeleMilanItaly Pancreas Translational&Clinical Research Center OSR ENETS Center of ExcellenceUnit of Pancreatic SurgeryIRCCS Ospedale San RaffaeleMilanItaly Department of Radiology IRCCS Ospedale San RaffaeleMilanItaly Service of Laboratory Medicine Molecular Genetics Service and Clinical Genomics

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)***:A non-systematic narrative review of original articles,meta-analyses,and random-ized trials was conducted,including articles in the pre-clinical setting to support relevant ***:VHL disease is the most common rare hereditary disorder associated with clear cell renal cell *** individuals inherit a germline mutation in one VHL allele,and any somatic event that disrupt the other allele can trigger mutations,chromosomal rearrange-ments,or epigenetic regulations leading to *** a clinical perspective,patients continuously develop multiple primary ***: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.

关键词： Von Hippel-Lindau disease Rare tumor Genetic syndrome Clear cell renal cell carcinoma

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