Literature DB >> 16360474

Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation.

Joshua Fiske1, Rupa Patel, Eric Kau, John G Pappas, Roberto A Garcia, Samir S Taneja.   

Abstract

Von Hippel-Lindau disease (VHL) is a rare genetic disease with a lifetime risk of clear cell renal cell carcinoma in approximately 70% of cases. We present a case of a 63-year-old man with bilateral, multifocal renal masses. Genetic testing results were consistent with a VHL deletion. The patient had no other disease manifestations consistent with VHL. The patient underwent staged bilateral nephron-sparing procedures. Pathology of all renal masses revealed oncocytoma. To our knowledge, we describe the first reported case of multiple renal oncocytomas in a male patient with a germline VHL mutation.

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Year:  2005        PMID: 16360474     DOI: 10.1016/j.urology.2005.06.122

Source DB:  PubMed          Journal:  Urology        ISSN: 0090-4295            Impact factor:   2.649


  3 in total

1.  An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma.

Authors:  Lucia Anna Muscarella; Raffaela Barbano; Bartolomeo Augello; Vincenza Formica; Lucia Micale; Leopoldo Zelante; Leonardo D'Agruma; Giuseppe Merla
Journal:  J Hum Genet       Date:  2007-04-17       Impact factor: 3.172

2.  A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1α in a Von Hippel-Lindau Renal Oncocytoma.

Authors:  Monica De Luise; Vito Guarnieri; Claudio Ceccarelli; Leonardo D'Agruma; Anna Maria Porcelli; Giuseppe Gasparre
Journal:  Oxid Med Cell Longev       Date:  2019-01-09       Impact factor: 6.543

3.  High-Resolution Ultrasonography of Renal Oncocytoma Presenting with Symptomatic Hematuria and Urinary Bladder Clot Retention-A Rare Occurrence.

Authors:  Reddy Ravikanth
Journal:  J Kidney Cancer VHL       Date:  2022-01-01
  3 in total

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