Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations

Clinical Genetics

Volumn 79, Issue 4, 2011, Pages 345-354

  Maffe A ^a   Toschi, B ^b,i   Circo, G ^c   Giachino, D ^d   Giglio, S ^b   Rizzo, A ^e   Carloni, A ^f   Poletti, V ^g   Tomassetti, S ^g   Ginardi, C ^a   Ungari, S ^a   Genuardi, M ^b,h  

^a S CROCE E CARLE HOSPITAL   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c Muscatello Hospital   (United States)

^d UNIVERSITY OF TURIN   (Italy)

^e S Giacomo Hospital   (Italy)

^f S MARIA HOSPITAL   (Italy)

^g MORGAGNI PIERANTONI HOSPITAL   (Italy)

^h Fiorgen Foundation for Pharmacogenomics   (Italy)

ⁱ UNIVERSITY OF PISA   (Italy)

Author keywords

Fibrofolliculoma; Pneumothorax; Renal carcinoma; Renal chromophobe carcinoma; Renal oncocytoma; Trichodiscoma

Indexed keywords

ESTRONE;

ADULT; AGED; ARTICLE; BIRT HOGG DUBE SYNDROME; CLEAR CELL CARCINOMA; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; FAMILY ASSESSMENT; FAMILY HISTORY; FEMALE; GENE DOSAGE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; KIDNEY TUMOR; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONCOCYTOMA; PAROTID GLAND TUMOR; PAROTID ONCOCYTOMA; PEDIGREE ANALYSIS; PHENOTYPE; PNEUMOTHORAX; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSLATION INITIATION; TUMOR SUPPRESSOR GENE; WILD TYPE;

ADULT; AGED; BASE SEQUENCE; BIRT-HOGG-DUBE SYNDROME; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; KIDNEY; LUNG; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PROTO-ONCOGENE PROTEINS; SKIN; TUMOR SUPPRESSOR PROTEINS;

EID: 79952236168     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01480.x     Document Type: Article

References (35)

1. Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977: 113: 1674-1677.
2. Weintraub R, Pinkus HJ. Multiple fibrofolliculomas (Birt-Hogg-Dubé) associated with a large connective tissue nevus. Cutan Pathol 1977: 4: 289-299.
3. Balus L, Fazio M, Sacerdoti G et al. Fibrofolliculoma, trichodiscoma and acrochordon. The Birt-Hogg-Dubé sindrome. Ann Dermatol Venereol 1983: 110: 601-609.
4. Ubogy-Rainey Z, James WD, Lupton GP et al. Fibrofolliculomas, trichodiscomas, and acrochordons: the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 1987: 16: 452-457.
5. Roth JS, Rabinowitz AD, Benson M et al. Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 1993: 29: 1055-1056.
6. Chung JY, Ramos-Caro FA, Beers B et al. Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome. Int J Dermatol 1996: 35: 365-367.
7. Toro JR, Glenn G, Duray P et al. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol 1999: 135: 1195-1202.
8. 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: 321-331.
9. Pavlovich CP, Grubb RL, Hurley K et al. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol 2005: 173: 1482-1486.
10. Vincent A, Farley M, Chan E et al. Birt-Hogg-Dubé syndrome: two patients with neural tissue tumors. J Am Acad Dermatol 2003: 49: 717-719.
11. Nickerson ML, Warren MB, Toro JR et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell 2002: 2: 157-164.
12. 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: 1023-1033.
13. Wei MH, Blake PW, Shevchenko J et al. The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. Hum Mutat 2009: 30: E880-E890.
14. Lim DH, Rehal PK, Nahorski MS et al. A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. Hum Mutat 2010: 31: E1043-E1051.
15. Baba M, Hong SB, Sharma N et al. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci USA 2006: 103: 15552-15557.
16. Van Slegtenhorst M, Khabibullin D, Hartman TR, Nicolas E, Kruger WD, Petri Henske E. The Birt-Hogg-Dubé and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in schizosaccharomyces pombe. J Biol Chem 2007: 282: 24583-24590.
17. Hartman TR, Nicolas E, Klein-Szanto A et al. The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. Oncogene 2009: 28: 1594-1604.
18. Khoo SK, Kahnoski K, Sugimura J et al. Inactivation of BHD in sporadic renal tumors. Cancer Res 2003: 63: 4583-4587.
19. Menko FH, van Steensel MA, Giraud S et al. European BHD Consortium. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009: 10: 1199-1206.
20. Woodward ER, Ricketts C, Killick P et al. Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN. Clin Cancer Res 2008: 14: 5925-5930.
21. Ren HZ, Zhu CC, Yang C et al. Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. Clin Genet 2008: 74: 178-183.
22. Kunogi M, Kurihara M, Ikegami TS et al. Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet 2010: 47: 281-287.
23. Seifert G. New pathohistologic WHO classification of salivary gland adenomas. Pathologe 1992: 13: 322-335.
24. Capone RB, Ha PK, Westra WH et al. Oncocytic neoplasms of the parotid gland: a 16-year institutional review. Otolaryngol Head Neck Surg 2002: 126: 657-662.
25. Liu V, Kwan T, Page EH. Parotid oncocytoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 2000: 43: 1120-1122.
26. Palmirotta R, Donati P, Savonarola A et al. Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene. Eur J Dermatol 2008: 18: 382-386.
27. Toro JR, Pautler SE, Stewart L et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med 2007: 175: 1044-1053.
28. Tickoo SK, Lee MW, Eble JN et al. Ultrastructural observations on mitochondria and microvesicles in renal oncocytoma, chromophobe renal cell carcinoma, and eosinophilic variant of conventional (clear cell) renal cell carcinoma. Am J Surg Pathol 2000: 24: 1247-1256.
29. Hornstein OP, Knickenberg M et al. Perifollicular fibromatosis cutis with polyps of the colon - a cutaneo-intestinal syndrome sui generis. Arch Dermatol Res 1975: 253: 161-175.
30. Rongioletti F, Hazini R, Gianotti G et al. Fibrofolliculomas, tricodiscomas and acrochordons (Birt-Hogg-Dubé) associated with intestinal polyposis. Clin Exp Dermatol 1989: 14: 72-74.
31. Le Guyadec T, Dufau JP, Poulain JF et al. Multiple trichodiscomas associated with colonic polyposis. Ann Dermatol Venereol 1998: 125: 717-719.
32. Monteagudo Sánchez B, Alvarez Alvarez C, León Muiños E et al. Birt-Hogg-Dube syndrome associated with intestinal polyposis. Gastroenterol Hepatol 2004: 27: 636.
33. Zbar B, Alvord WG, Glenn G et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev 2002: 11: 393-400.
34. Van Steensel MA, Verstraeten VL, Frank J et al. Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients. J Invest Dermatol 2007: 127: 588-593.
35. Sundaram S, Tasker AD, Morrell NW. Familial spontaneous pneumothorax and lung cysts due to a folliculin exon 10 mutation. Eur Respir J 2009: 33: 1510-512.