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01-09-2013 | Original Article

Diagnosis and management of BHD-associated kidney cancer

Authors: Lambros Stamatakis, Adam R. Metwalli, Lindsay A. Middelton, W. Marston Linehan

Published in: Familial Cancer | Issue 3/2013

Abstract

In addition to the associated cutaneous and pulmonary manifestations, individuals with the Birt-Hogg-Dubé (BHD) syndrome have an increased risk of developing kidney cancer, which is often bilateral and multifocal. The risk of developing a renal tumor in this population does not decrease with age and therefore warrants a lifelong screening approach. We recommend abdominal imaging every 36 months in individuals without renal lesions at initial screening. Once renal tumors are identified, they should be followed with interval imaging studies until the largest tumor reaches 3 cm in maximal diameter, at which point nephron-sparing surgery should be ideally pursued. While the histology of renal tumors can vary in the BHD syndrome, most tumors possess a relatively indolent natural history and do not require adjuvant therapy if resected when localized to the kidney. With this approach, the vast majority of patients will achieve a curative oncologic outcome and avoid the medical sequelae of chronic renal insufficiency that could otherwise result from total nephrectomy.

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Title: Diagnosis and management of BHD-associated kidney cancer
Authors: Lambros Stamatakis
Adam R. Metwalli
Lindsay A. Middelton
W. Marston Linehan
Publication date: 01-09-2013
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 3/2013
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-013-9657-4

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