Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome

Christian Pavlovich, Robert L. Grubb, Kathleen Hurley, Gladys M. Glenn, Jorge Toro, Laura S. Schmidt, Carlos Torres-Cabala, Maria J. Merino, Berton Zbar, Peter Choyke, McClellan M. Walther, W. Marston Linehan

Research output: Contribution to journalArticle

Abstract

Purpose: Herein we describe the evaluation and management of renal tumors in Birt-Hogg-Dubé (BHD), an autosomal dominant disorder predisposing to cutaneous fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal tumors. Materials and Methods: A total of 124 affected individuals underwent comprehensive clinical evaluation, including body computerized tomography, to determine cutaneous, pulmonary and renal manifestations of BHD. Of these individuals 14 had their renal tumors managed at our institution. Results: Of the 124 BHD affected individuals 34 (27%) had renal tumors of various histologies, most commonly hybrid oncocytic tumor and chromophobe renal carcinoma. Average age at renal tumor detection was 50.4 years and multiple tumors were found in a majority of patients. Some patients with renal tumors were identified that did not have the characteristic cutaneous hallmarks of BHD. In 4 of the 14 patients treated at our institution small (less than 3 cm) renal tumors were observed, while 10 others underwent a total of 12 renal procedures, including 4 radical and 8 partial nephrectomies. At a median of 38 months of followup 5 of these 10 patients remained free of disease, 3 had small renal tumors and 2 died of metastatic renal cancer. Conclusions: Patients with BHD are at risk for multiple renal tumors that are often malignant and can metastasize. Individuals at risk or affected by BHD should be radiographically screened for renal tumors at periodic intervals and they are best treated with nephron sparing surgical approaches. Genetic testing for this syndrome is now available.

Original languageEnglish (US)
Pages (from-to)1482-1486
Number of pages5
JournalJournal of Urology
Volume173
Issue number5
DOIs
Publication statusPublished - May 2005
Externally publishedYes

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Keywords

  • Gene expression
  • Kidney
  • Kidney neoplasms
  • Pneumothorax

ASJC Scopus subject areas

  • Urology

Cite this

Pavlovich, C., Grubb, R. L., Hurley, K., Glenn, G. M., Toro, J., Schmidt, L. S., ... Linehan, W. M. (2005). Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. Journal of Urology, 173(5), 1482-1486. https://doi.org/10.1097/01.ju.0000154629.45832.30