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


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.
Pavlovich
Christian P
CP
Urologic Oncology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute and Basic Research Program, SAIC-Frederick, Inc., Frederick, Maryland, USA.
Grubb
Robert L
RL
Hurley
Kathleen
K
Glenn
Gladys M
GM
Toro
Jorge
J
Schmidt
Laura S
LS
Torres-Cabala
Carlos
C
Merino
Maria J
MJ
Zbar
Berton
B
Choyke
Peter
P
Walther
McClellan M
MM
Linehan
W Marston
WM
D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000601:surgery*; D008297:Male; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000601:surgery*; D010375:Pedigree