A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; A clinical and molecular evaluation

Familial Cancer

Volumn 12, Issue 3, 2013, Pages 373-379

  Menko, Fred H ^a   Johannesma, Paul C ^a   Van Moorselaar, R Jeroen A ^a   Reinhard, Rinze ^a   Van Waesberghe, Jan Hein ^a   Thunnissen, Erik ^a   Houweling, Arjan C ^a   Leter, Edward M ^a   Waisfisz, Quinten ^a   Van Doorn, Martijn B ^a   Starink, Theo M ^a   Postmus, Pieter E ^a   Coull, Barry J ^b   Van Steensel, Maurice A M ^b   Gille, Johan J P ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Birt Hogg Dub syndrome; de novo mutation; Folliculin; Pneumothorax; Renal cancer

Indexed keywords

ESTRONE; GENOMIC DNA;

ADULT; ARTICLE; BIRT HOGG DUBE SYNDROME; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DNA EXTRACTION; GENE EXPRESSION; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; KIDNEY CANCER; MALE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PLEURECTOMY; PLEURODESIS; PRIORITY JOURNAL; SPONTANEOUS PNEUMOTHORAX; VIDEO ASSISTED THORACOSCOPIC SURGERY;

ADULT; GERM-LINE MUTATION; HUMANS; IMMUNOENZYME TECHNIQUES; KIDNEY NEOPLASMS; MAGNETIC RESONANCE IMAGING; MALE; PNEUMOTHORAX; PROGNOSIS; PROTO-ONCOGENE PROTEINS; TOMOGRAPHY, X-RAY COMPUTED; TUMOR SUPPRESSOR PROTEINS;

EID: 84885949647     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-012-9593-8     Document Type: Article

References (31)

1. Birt AR, Hogg GR, Dubé WJ (1977) Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 113:1674-1677
2. Roth JS, Rabinowitz AD, Benson M (1993) Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 29:1055-1056
3. Zbar B, Alvord WG, Glenn G et al (2002) Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomark Prev 11:393-400
4. Nickerson ML, Warren MB, Toro JR et al (2002) Mutations in a novel gene lead to kidney tumours, lung wall defects, and benign tumours of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell 2:157-164
5. Graham RB, Nolasco M, Peterlin B et al (2005) Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. Am J Respir Crit Care Med 172:39-44
6. Painter JN, Tapanainen HA, Somer M et al (2005) 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. Am J Hum Genet 76:522-527
7. Woodward ER, Ricketts C, Killick P et al (2008) Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN. Clin Cancer Res 14:5925-5930
8. Schmidt LS, Nickerson ML, Warren MB et al (2005) Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet 76:1023-1033
9. Toro JR, Wei MH, Glenn GM et al (2008) 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 45:321-331
10. Benhammou JN, Vocke CD, Santani A et al (2011) Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. Genes Chromosomes Cancer 50:466-477
11. Wei MH, Blake PW, Shevchenko J, Toro JR (2009) The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. Hum Mutat 30:E880-E890
12. Lim DH, Rehal PK, Nahorski MS et al (2010) A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. Hum Mutat 1:E1043-E1051
13. van Steensel MA, van Geel M, Badeloe S et al (2009) Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin? Exp Dermatol 18:185-191
14. Hasumi Y, Baba M, Ajima R et al (2009) Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2. Proc Natl Acad Sci USA 106:18722-18727
15. Nookala RK, Langemeyer L, Pacitto A et al (2012) Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. Open Biol 2:120071
16. Menko FH, van Steensel MA, Giraud S et al (2009) European BHD Consortium. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol 10:1199-1206
17. Win AK, Jenkins MA, Buchanan DD et al (2011) Determining the frequency of de novo germline mutations in DNA mismatch repair genes. J Med Genet 48:530-534
18. Aretz S, Uhlhaas S, Caspari R (2004) Frequency and parental origin of de novo APC mutations in familial adenomatous poly-posis. Eur J Hum Genet 12:52-58
19. Preston RS, Phil A, Claessens T et al (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene 30:1159-1173
20. Leter EM, Koopmans AK, Gille JJ et al (2008) Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families. J Invest Dermatol 128:45-49
21. Houweling AC, Gijezen LM, Jonker MA et al (2011) Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer 105:1912-1919
22. Noppen M (2010) Spontaneous pneumothorax: epidemiology, pathophysiology and cause. Eur Respir Rev 19:217-219
23. Grundy S, Bentley A, Tschopp J-M (2012) Primary spontaneous pneumothorax: a diffuse disease of the pleura. Respiration 83:185-189
24. Toro JR, Pautler SE, Stewart L et al (2007) Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med 175:1044-1053
25. Fröhlich BA, Zeitz C, Mátyás G et al (2008) Novel mutations in the folliculin gene associated with spontaneous pneumothorax. Eur Respir J 32:1316-1320
26. Kluger N, Giraud S, Coupier I et al (2010) Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. Br J Dermatol 162:527-537
27. Butnor KJ, Guinee DG Jr (2006) Pleuropulmonary pathology in Birt-Hogg-Dubé syndrome. Am J Surg Pathol 30:395-399
28. Ayo DS, Aughenbaugh GL, Yi ES et al (2007) Cystic lung disease in Birt-Hogg-Dubé syndrome. Chest 132:679-684
29. Koga S, Furuya M, Takahashi Y et al (2009) Lung cysts in Birt-Hogg-Dubé syndrome: histopathological characteristics and aberrant sequence repeats. Pathol Int 59:720-728
30. Furuya M, Tanaka R, Koga S et al (2012) Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathological and immunohistochemical study of 9 families. Am J Surg Pathol 36:589-600
31. Vocke CD, Yang Y, Pavlovich CP et al (2005) High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors. J Natl Cancer Inst 97:931-935