Document Detail


The impact of germline BHD mutation on histological concordance and clinical treatment of patients with bilateral renal masses and known unilateral oncocytoma.
MedLine Citation:
PMID:  21496834     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: Managing oncocytoma in the setting of bilateral renal masses is a challenging scenario. Nevertheless, to our knowledge the pathological concordance of an oncocytic neoplasm in 1 kidney with tumors in the contralateral kidney is not known. We evaluated the influence of germline Birt-Hogg-Dubé mutation on concordance rates to assist in managing these cases.
MATERIALS AND METHODS: We reviewed the records of patients at the National Institutes of Health between 1983 and 2009 who had bilateral renal masses, known pathology bilaterally and oncocytoma or an oncocytic neoplasm in at least 1 kidney. Oncocytoma or an oncocytic neoplasm in 2 renal units was considered concordant. Demographic, pathological and clinical data were collected.
RESULTS: The population consisted of 40 patients, including 23 with and 17 without a diagnosis of Birt-Hogg-Dubé syndrome. Patients with the syndrome were younger (p <0.01) but there were no other differences between the 2 groups. However, patients with the syndrome had statistically lower histological concordance between bilateral masses than patients without the diagnosis (Fisher's exact test p <0.01). Also, the 8 patients without Birt-Hogg-Dubé syndrome who had multifocal renal masses showed 100% oncocytoma concordance between renal units.
CONCLUSIONS: Of patients with bilateral renal masses those with Birt-Hogg-Dubé syndrome have significantly lower histological concordance than those without the syndrome. Patients with Birt-Hogg-Dubé syndrome should be monitored and treated differently than those without detected genetic mutations, especially patients with multifocal oncocytomas. Genetic testing for Birt-Hogg-Dubé should be considered in the treatment algorithm of patients with bilateral renal masses and known oncocytoma.
Authors:
Ronald S Boris; Jihane Benhammou; Maria Merino; Peter A Pinto; W Marston Linehan; Gennady Bratslavsky
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Intramural     Date:  2011-04-15
Journal Detail:
Title:  The Journal of urology     Volume:  185     ISSN:  1527-3792     ISO Abbreviation:  J. Urol.     Publication Date:  2011 Jun 
Date Detail:
Created Date:  2011-05-12     Completed Date:  2011-07-19     Revised Date:  2011-09-05    
Medline Journal Info:
Nlm Unique ID:  0376374     Medline TA:  J Urol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2050-5     Citation Subset:  AIM; IM    
Copyright Information:
Copyright © 2011 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.
Affiliation:
Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892-1107, USA.
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MeSH Terms
Descriptor/Qualifier:
Adenoma, Oxyphilic / genetics*,  pathology,  therapy
Adult
Aged
Algorithms
Carcinoma, Renal Cell / genetics*,  pathology,  therapy
Female
Germ-Line Mutation*
Humans
Kidney Neoplasms / genetics,  pathology,  therapy
Male
Middle Aged
Neoplasms, Multiple Primary / genetics*,  pathology,  therapy
Proto-Oncogene Proteins / genetics*
Retrospective Studies
Tumor Suppressor Proteins / genetics*
Chemical
Reg. No./Substance:
0/FLCN protein, human; 0/Proto-Oncogene Proteins; 0/Tumor Suppressor Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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