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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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作者 Alessandro Larcher Federico Belladelli +22 位作者 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 《Asian Journal of Urology》 CSCD 2022年第4期430-442,共13页
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 Hip... 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 random-ized trials was conducted,including articles in the pre-clinical setting to support relevant find-ings.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 rearrange-ments,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. 展开更多
关键词 Von Hippel-Lindau disease Rare tumor Genetic syndrome Clear cell renal cell carcinoma
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