Birt-Hogg-Dubé syndrome: Clinicopathological features of the lung

Journal of Clinical Pathology

Volumn 66, Issue 3, 2013, Pages 178-186

  Furuya, Mitsuko ^a   Nakatani, Yukio ^b  

^a Graduate School of Medicine   (Japan)

^b CHIBA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; FOLLICULIN INTERACTING PROTEIN 1; FOLLICULIN INTERACTING PROTEIN 2; FOLLICULIN PROTEIN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE KINASE; MAMMALIAN TARGET OF RAPAMYCIN; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG;

BIRT HOGG DUBE SYNDROME; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC ERROR; GENE DELETION; GENE DUPLICATION; GENE MUTATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; KIDNEY ADENOMA; KIDNEY CARCINOMA; KIDNEY CYST; KIDNEY TUMOR; LUNG BULLA; LUNG CYST; LUNG DISEASE; LUNG EMPHYSEMA; NONHUMAN; NUCLEOTIDE SEQUENCE; PNEUMOTHORAX; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR GENE;

ADULT; AGED; ANIMALS; BIRT-HOGG-DUBE SYNDROME; CYSTS; DIAGNOSIS, DIFFERENTIAL; EMPHYSEMA; FEMALE; HUMANS; LUNG; LUNG DISEASES; MALE; MICE; MICE, KNOCKOUT; MUTATION; PNEUMONECTOMY; PNEUMOTHORAX; PROTO-ONCOGENE PROTEINS; RADIOGRAPHY, THORACIC; RATS; TOMOGRAPHY, X-RAY COMPUTED; TUMOR SUPPRESSOR PROTEINS;

EID: 84874650899     PISSN: 00219746     EISSN: 14724146     Source Type: Journal    
DOI: 10.1136/jclinpath-2012-201200     Document Type: Review

References (47)

1. Birt AR, Hogg GR, Dube WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977;113:1674-7.
2. Hornstein OP, Knickenberg M. Perifollicular fibromatosis cutis with polyps of the colon: a cutaneo-intestinal syndrome sui generis. Arch Dermatol Res 1975;253:161-75.
3. Happle R. Hornstein-Birt-Hogg-Dube syndrome: a renaming and reconsideration. Am J Med Genet A 2012;158A:1247-51.
4. Khoo SK, Bradley M, Wong FK, et al. Birt-Hogg-Dube syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2. Oncogene 2001;20:5239-42.
5. Schmidt LS, Warren MB, Nickerson ML, et al. Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet 2001;69:876-82.
6. 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-Dube syndrome. Cancer Cell 2002;2:157-64.
7. Gunji Y, Akiyoshi T, Sato T, et al. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet 2007;44:588-93.
8. Butnor KJ, Guinee DG Jr. Pleuropulmonary pathology of Birt-Hogg-Dube syndrome. Am J Surg Pathol 2006;30:395-9.
9. Graham RB, Nolasco M, Peterlin B, et al. Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. Am J Respir Crit Care Med 2005;172:39-44.
10. Pittet O, Christodoulou M, Staneczek O, et al. Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax. Ann Thorac Surg 2006;82:1123-5.
11. Zbar B, Alvord WG, Glenn G, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome. Cancer Epidemiol Biomarkers Prev 2002;11:393-400.
12. Toro JR, Pautler SE, Stewart L, et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome. Am J Respir Crit Care Med 2007;175:1044-53.
13. Harari S, Torre O, Moss J. Lymphangioleiomyomatosis: what do we know and what are we looking for? Eur Respir Rev 2011;20:34-44.
14. Juvet SC, McCormack FX, Kwiatkowski DJ, et al. Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol 2007;36:398-408.
15. Cho MH, Klanderman BJ, Litonjua AA, et al. Folliculin mutations are not associated with severe COPD. BMC Med Genet 2008;9:120.
16. Tobino K, Gunji Y, Kurihara M, et al. Characteristics of pulmonary cysts in Birt-Hogg-Dube syndrome: thin-section CT findings of the chest in 12 patients. Eur J Radiol 2011;77:403-9.
17. Tobino K, Hirai T, Johkoh T, et al. Differentiation between Birt-Hogg-Dube syndrome and lymphangioleiomyomatosis: quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females. Eur J Radiol 2011;77:403-9.
18. Ayo DS, Aughenbaugh GL, Yi ES, et al. Cystic lung disease in Birt-Hogg-Dube syndrome. Chest 2007;132:679-84.
19. Koga S, Furuya M, Takahashi Y, et al. Lung cysts in Birt-Hogg-Dube syndrome: histopathological characteristics and aberrant sequence repeats. Pathol Int 2009;59:720-8.
20. Furuya M, Tanaka R, Koga S, et al. Pulmonary cysts of Birt-Hogg-Dube syndrome: a clinicopathologic and immunohistochemical study of 9 families. Am J Surg Pathol 2012;36:589-600.
21. Koga S, Furuya M, Nakatani Y. [Birt-Hogg-Dube syndrome]. Nihon Rinsho 2010;68:361-9.
22. Hayashi M, Takayanagi N, Ishiguro T, et al. Birt-Hogg-Dube syndrome with multiple cysts and recurrent pneumothorax: pathological findings. Intern Med 2010;49:2137-42.
23. Rowan C, Hansell DM, Renzoni E, et al. Diffuse cystic lung disease of unexplained cause with coexistent small airway disease: a possible causal relationship? Am J Surg Pathol 2012;36:228-34.
24. Hartman TR, Nicolas E, Klein-Szanto A, et al. The role of the Birt-Hogg-Dube protein in mTOR activation and renal tumorigenesis. Oncogene 2009;28:1594-604.
25. Hudon V, Sabourin S, Dydensborg AB, et al. Renal tumour suppressor function of the Birt-Hogg-Dube syndrome gene product folliculin. J Med Genet 2010;47:182-9.
26. 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-Dube patients. J Invest Dermatol 2007;127:588-93.
27. Warren MB, Torres-Cabala CA, Turner ML, et al. Expression of Birt-Hogg-Dube gene mRNA in normal and neoplastic human tissues. Mod Pathol 2004;17:998-1011.
28. Hasumi Y, Baba M, Ajima R, et al. Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2. Proc Natl Acad Sci USA 2009;106:18722-7.
29. Okimoto K, Sakurai J, Kobayashi T, et al. A germ-line insertion in the Birt-Hogg-Dube (BHD) gene gives rise to the Nihon rat model of inherited renal cancer. Proc Natl Acad Sci USA 2004;101:2023-7.
30. Kouchi M, Okimoto K, Matsumoto I, et al. Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dube syndrome. Virchows Arch 2006;448:463-71.
31. Vocke CD, Yang Y, Pavlovich CP, et al. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors. J Natl Cancer Inst 2005;97:931-5.
32. Baba M, Furihata M, Hong SB, et al. Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. J Natl Cancer Inst 2008;100:140-54.
33. Tomassetti S, Carloni A, Chilosi M, et al. Pulmonary features of Birt-Hogg-Dube syndrome: cystic lesions and pulmonary histiocytoma. Respir Med 2011;105:768-74.
34. 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;103:15552-7.
35. Hasumi H, Baba M, Hong SB, et al. Identification and characterization of a novel folliculin-interacting protein FNIP2. Gene 2008;415:60-7.
36. Takagi Y, Kobayashi T, Shiono M, et al. Interaction of folliculin (Birt-Hogg-Dube gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. Oncogene 2008;27:5339-47.
37. Inoki K, Corradetti MN, Guan KL. Dysregulation of the TSC-mTOR pathway in human disease. Nat Genet 2005;37:19-24.
38. Cash TP, Gruber JJ, Hartman TR, et al. Loss of the Birt-Hogg-Dube tumor suppressor results in apoptotic resistance due to aberrant TGFbeta-mediated transcription. Oncogene 2011;30:2534-46.
39. Hong SB, Oh H, Valera VA, et al. Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling. Mol Cancer 2010;9:160.
40. Wei MH, Blake PW, Shevchenko J, et al. The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dube syndrome. Hum Mutat 2009;30:E880-90.
41. Painter JN, Tapanainen H, Somer M, et al. A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax. Am J Hum Genet 2005;76:522-7.
42. Schmidt LS, Nickerson ML, Warren MB, et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. Am J Hum Genet 2005;76:1023-33.
43. 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;47:281-7.
44. Nagashima Y, Furuya M, Gotohda H, et al. FLCN gene-mutated renal cell neoplasms: mother and daughter cases with a novel germline mutation. Int J Urol 2012;19:468-70.
45. Menko FH, van Steensel MA, Giraud S, et al. Birt-Hogg-Dube syndrome: diagnosis and management. Lancet Oncol 2009;10:1199-206.
46. Reese E, Sluzevich J, Kluijt I, et al. Birt-Hogg-Dube syndrome. Cancer syndromes. Bethesda, MD: National Center for Biotechnology Information (US); 1 September 2009. http://www.ncbi.nlm.nih.gov/books/NBK45326/(accessed 15 Oct 2012).
47. Toro JR, Wei MH, Glenn GM, et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports. J Med Genet 2008;45:321-31.