Risk of renal and colonic neoplasms and spontaneous pneumothorax pneurnothorax in the Birt-Hogg-Dubé syndrome

Berton Zbar, W. Gregory Alvord, Gladys Glenn, Maria Turner, Christian P. Pavlovich, Laura Schmidt, McClellan Walther, Peter Choyke, Gregor Weirich, Stephen M. Hewitt, Paul Duray, Fathia Gabril, Cheryl Greenberg, Maria J. Merino, Jorge Toro, W. Marston Linehan

Research output: Contribution to journalArticlepeer-review

384 Scopus citations

Abstract

The Birt-Hogg-Dubé syndrome, a genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal and colonic neoplasms and spontaneous pneumothorax, but the risk of developing these disorders is unknown. We identified risk factors for renal tumors and spontaneous pneumothorax in 98 patients affected with the Birt-Hogg-Dubé syndrome, in 13 Birt-Hogg-Dubé haplotype carriers, and in 112 unaffected family members. Development of renal tumors was strongly associated with the Birt-Hogg-Dubé syndrome and age. The odds ratio for renal tumor in BHD-affected family members adjusted for age was 6.9 (95% confidence interval, 1.5-31.6) and ∼9.0 for the other risk factors considered. Chromophobe renal carcinoma, an uncommon type of renal cancer, was the predominant type of renal cancer found. Spontaneous pneumothorax was also strongly associated with the Birt-Hogg-Dubé syndrome and age. The odds ratio for pneumothorax in BHD-affected individuals, adjusted for age, was 50.3 (95% confidence interval, 6.4-392), and about 32 times higher adjusting for the other risk variables. Colon cancer and colon polyps were not related to the Birt-Hogg-Dubé syndrome. The Birt-Hogg-Dubé syndrome confers an increased risk for the development of renal tumors and spontaneous pneumothorax. We found no increase in risk for the development of colon polyps or colon carcinomas.

Original languageEnglish (US)
Pages (from-to)393-400
Number of pages8
JournalCancer Epidemiology Biomarkers and Prevention
Volume11
Issue number4
StatePublished - Jan 1 2002
Externally publishedYes

ASJC Scopus subject areas

  • Epidemiology
  • Oncology

Fingerprint

Dive into the research topics of 'Risk of renal and colonic neoplasms and spontaneous pneumothorax pneurnothorax in the Birt-Hogg-Dubé syndrome'. Together they form a unique fingerprint.

Cite this