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Advancing the field of rare genitourinary tumors:Challenges and opportunities

Asian Journal of Urology 2022年第4期9卷 347-348,F0002页

作者： Philippe E.Spiess andrea necchi Department of Genitourinary Oncology and Tumor Biology Moffitt Cancer CenterTampaUSA Vita Salute San Raffaele University and Urological Research Institute IRCCS San Raffaele Hospital and Scientific InstituteMilanItaly

Firstly,I would like to congratulate the editorial team of the Asion Journol of Urology for dedicating a speclial isue of the joumal to this important *** recent advances in our fundamental understanding of the pathop... 详细信息

关键词： urinary tumors rare

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Genitourinary manifestations of Lynch syndrome in the urological practice

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Asian Journal of Urology 2022年第4期9卷 443-450页

作者： Chiara Lonati Claudio Simeone Nazareno Suardi Philippe ESpiess andrea necchi Marco Moschini Urology Unit ASST Spedali Civili di BresciaDepartment of Medical and Surgical SpecialtiesRadiological Science and Public HealthUniversity of BresciaBresciaItaly Department of Urology Luzerner KantonsspitalLucerneSwitzerland Department of Genitourinary Oncology H.Lee Moffitt Cancer Center and Research InstituteTamplaFLUSA University Vita-Salute San Raffaele MilanItaly Department of Medical Oncology IRCCS San Raffaele Hospital and Scientific InstituteMilanItaly Division of Experimental Oncology/Unit of Urology Urological Research InstituteIRCCS Ospedale San RaffaeleMilanItaly

Objective:Lynch syndrome(LS)is an autosomal dominant hereditary disorder resulting from germline mutation in at least one of the four mismatch repair genes or in EPCAM *** a clinical perspective,LS patients exhibit an increased predisposition to multiple primary malignancies and early age of onset compared to general *** aimed to provide a comprehensive overview of all the genitourinary manifestations of LS,focusing on incidence,diagnosis,clinical features,therapeutic strategies,and screening ***:Previous literature was assessed through Medline,Scopus,and Google Scholar data-bases.A narrative review of the most relevant articles from January 1996 to June 2021 on urological manifestations of LS was ***:In the LS tumor spectrum,upper tract urothelial carcinoma(UTUC)represents the third most frequent malignancy,and the first most common cancer in the urological field,with an approximately 14-fold increased risk of developing UTUC compared to general *** diagnosis among patients experiencing UTUC as first malignancy is a step-by-step process,including(i)clinical criteria,(ii)molecular testing,and(iii)genetic testing to confirm the hereditary *** current European Association of Urology(EAU)guidelines recommend to perform molecular testing among UTUC patients under 65 years old,or UTUC patients with personal history of LS-related tumor,or UTUC patients with one first-degree relative under the age of 50 years with LS-related tumor,or UTUC patients with two first-degree relatives with LS-related tumor regardless of age of *** diagnosed LS patients should be referred to a multidisci-plinary management,including gastroenterologists and ***,considering the increased risk of metachronous recurrence,treatments other than radical nephroureterectomy may be a valuable therapeutic *** urological malignancies other than UTUC should be included in the LS tumor spectrum is still cont

关键词： Hereditary disease Hereditary nonpolyposis colorectal cancer Lynch syndrome Mismatch repair Upper tract urothelial carcinoma

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

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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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