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Birt-Hogg-Dubé Syndrome


Authors: A. Křepelová 1,2;  A. Puchmajerová 1;  P. Vasovčák 1;  M. Chocholatý 3
Authors‘ workplace: Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha 1;  Ústav biologie a lékařské genetiky, 2. LF UK a FN Motol, Praha 2;  Urologická klinika, 2. LF UK a FN Motol, Praha 3
Published in: Klin Onkol 2012; 25(Supplementum): 18-20

Overview

Birt-Hogg-Dubé syndrome (BHDS, MIM 135150) is an autosomal dominant condition characte­rized by presence of skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cancer. The disease is caused by germ-line mutations of the FLCN gene, which encodes protein folliculin. BHDS is a rare condition with high penetrance and variable expression. Clinical recommendations include increased care during general anesthesia due to a higher risk of pneumothorax, and long-term follow-up due to an elevated risk of renal cancer. Diagnostic and predictive DNA tests are available; prenatal and preimplantation diagnosis is possible.

Key words:
Birt-Hogg-Dubé Syndrome – FLCN gene – folliculin – fibrofolliculoma – pneumothorax – renal cancer

This study was supported by institutional resources for supporting the Research Organization (00064203) and by UK Grant agency 104610.

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers. 

Submitted:
25. 4. 2012

Accepted:
2. 5. 2012


Sources

1. Plevová P, Novotný J, Křepelová A. Von Hippel-Lindauova choroba. Klin Onkol 2009; 22 (Suppl): S23–S24.

2. Křepelová A. Dědičné formy nádorů ledvin – spektrum predispozičních genů a jejich testování. Klin Onkol 2006; 19 (Suppl): 82–84.

3. Menko FH, van Steensel MA, Giraud S et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol 2009; 10(12): 1199–1206.

4. Schmidt LS, Nickerson ML, Warren MB et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet 2005; 76(6): 1023–1033.

5. Toro JR, Wei MH, Glenn GM et al. BHD mutations, clinical and molecular genetic investigations of Birt--Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet 2008; 45(6): 321–331.

6. Benhammou JN, Vocke CD, Santani A et al. Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. Genes Chromosommes Cancer 2011; 50(6): 466–477.

Labels
Paediatric clinical oncology Surgery Clinical oncology

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Clinical Oncology

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