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Diagnosis and management of BHD-associated kidney cancer

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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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Acknowledgments

This research was supported by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research. The authors wish to thank Georgia Shaw (editorial and graphics support), Dr. Maria J. Merino (for providing the BHD kidney cancer histology images), and Rabindra Gautam (for providing the radiologic images).

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Authors and Affiliations

  1. Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, 10 Center Drive MSC 1107, CRC Room 1W-5940, Bethesda, MD, 20892-1107, USA

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

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  1. Lambros Stamatakis
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  2. Adam R. Metwalli
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  3. Lindsay A. Middelton
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  4. W. Marston Linehan
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Correspondence to W. Marston Linehan.

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Stamatakis, L., Metwalli, A.R., Middelton, L.A. et al. Diagnosis and management of BHD-associated kidney cancer. Familial Cancer 12, 397–402 (2013). https://doi.org/10.1007/s10689-013-9657-4

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  • DOI: https://doi.org/10.1007/s10689-013-9657-4

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