title: Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome.
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 approximately 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.
authors.affiliation: Laboratory of Immunobiology, Science Application International Corporation, National Cancer Institute-Frederick, Frederick, Maryland 21702, USA.
authors.forename: Berton
authors.initials: B
authors.lastname: Zbar
authors.forename: W Gregory
authors.initials: WG
authors.lastname: Alvord
authors.forename: Gladys
authors.initials: G
authors.lastname: Glenn
authors.forename: Maria
authors.initials: M
authors.lastname: Turner
authors.forename: Christian P
authors.initials: CP
authors.lastname: Pavlovich
authors.forename: Laura
authors.initials: L
authors.lastname: Schmidt
authors.forename: McClellan
authors.initials: M
authors.lastname: Walther
authors.forename: Peter
authors.initials: P
authors.lastname: Choyke
authors.forename: Gregor
authors.initials: G
authors.lastname: Weirich
authors.forename: Stephen M
authors.initials: SM
authors.lastname: Hewitt
authors.forename: Paul
authors.initials: P
authors.lastname: Duray
authors.forename: Fathia
authors.initials: F
authors.lastname: Gabril
authors.forename: Cheryl
authors.initials: C
authors.lastname: Greenberg
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Merino
authors.forename: Jorge
authors.initials: J
authors.lastname: Toro
authors.forename: W Marston
authors.initials: WM
authors.lastname: Linehan
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D003110:Colonic Neoplasms / Q000209:etiology*; D003111:Colonic Polyps / Q000209:etiology*; D005260:Female; D018859:Hair Follicle / Q000473:pathology*; D006801:Humans; D007680:Kidney Neoplasms / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010375:Pedigree; D011030:Pneumothorax / Q000209:etiology*; D012307:Risk Factors; D012871:Skin Diseases / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D013577:Syndrome