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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| Language: | English |
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Elsevier
2022-10-01
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| Series: | Asian Journal of Urology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214388222000996 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Alessandro Larcher |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-ffb4d3ee35e942a6a458bbde8ad19571 |
| institution | Kabale University |
| issn | 2214-3882 |
| language | English |
| publishDate | 2022-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Asian Journal of Urology |
| spelling | doaj-art-ffb4d3ee35e942a6a458bbde8ad195712025-08-20T03:48:32ZengElsevierAsian Journal of Urology2214-38822022-10-019443044210.1016/j.ajur.2022.08.002Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for cliniciansAlessandro Larcher0Federico Belladelli1Giuseppe Fallara2Isaline Rowe3Umberto Capitanio4Laura Marandino5Daniele Raggi6Jody Filippo Capitanio7Michele Bailo8Rosangela Lattanzio9Costanza Barresi10Sonia Francesca Calloni11Maurizio Barbera12Valentina Andreasi13Giorgia Guazzarotti14Giovanni Pipitone15Paola Carrera16Andrea Necchi17Pietro Mortini18Francesco Bandello19Andrea Falini20Stefano Partelli21Massimo Falconi22Francesco De Cobelli23Andrea Salonia24Ospedale San Raffaele VHL Research Program, Milan, Italy; URI-Urological Research Institute, Department of Urology, Division of Experimental Oncology, IRCCS Ospedale San Raffaele, Milan, Italy; Università Vita-Salute San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; URI-Urological Research Institute, Department of Urology, Division of Experimental Oncology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; URI-Urological Research Institute, Department of Urology, Division of Experimental Oncology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; URI-Urological Research Institute, Department of Urology, Division of Experimental Oncology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; URI-Urological Research Institute, Department of Urology, Division of Experimental Oncology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Department of Oncology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Department of Oncology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Department of Neurosurgery, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy; Department of Neurosurgery, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Department of Ophthalmology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Department of Ophthalmology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Department of Neuroradiology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Department of Neuroradiology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy; Pancreas Translational & Clinical Research Center, OSR ENETS Center of Excellence, Unit of Pancreatic Surgery, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Department of Radiology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Service of Laboratory Medicine, Molecular Genetics Service and Clinical GenomicsOspedale San Raffaele VHL Research Program, Milan, Italy; Service of Laboratory Medicine, Molecular Genetics Service and Clinical GenomicsOspedale San Raffaele VHL Research Program, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy; Department of Oncology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy; Department of Neurosurgery, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy; Department of Ophthalmology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy; Department of Neuroradiology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy; Pancreas Translational & Clinical Research Center, OSR ENETS Center of Excellence, Unit of Pancreatic Surgery, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy; Pancreas Translational & Clinical Research Center, OSR ENETS Center of Excellence, Unit of Pancreatic Surgery, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy; Department of Radiology, IRCCS Ospedale San Raffaele, Milan, ItalyOspedale San Raffaele VHL Research Program, Milan, Italy; URI-Urological Research Institute, Department of Urology, Division of Experimental Oncology, IRCCS Ospedale San Raffaele, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy; Corresponding author. URI-Urological Research Institute, Department of Urology, Division of Experimental Oncology, IRCCS Ospedale San Raffaele, Milan, Italy.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.http://www.sciencedirect.com/science/article/pii/S2214388222000996Von Hippel-Lindau diseaseRare tumorGenetic syndromeClear cell renal cell carcinoma |
| spellingShingle | 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 Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians Asian Journal of Urology Von Hippel-Lindau disease Rare tumor Genetic syndrome Clear cell renal cell carcinoma |
| title | Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians |
| title_full | Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians |
| title_fullStr | Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians |
| title_full_unstemmed | Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians |
| title_short | Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians |
| title_sort | multidisciplinary management of patients diagnosed with von hippel lindau disease a practical review of the literature for clinicians |
| topic | Von Hippel-Lindau disease Rare tumor Genetic syndrome Clear cell renal cell carcinoma |
| url | http://www.sciencedirect.com/science/article/pii/S2214388222000996 |
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