American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol. 2003;21:2397–406. [PubMed: 12692171]
Benusiglio PR, Gad S, Massard C, Carton E, Longchampt E, Faudot T, Lamoril J, Ferlicot S. Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome. F1000Res. 2014;3:159. [PMC free article: PMC4168750] [PubMed: 25254107]
Cocciolone RA, Crotty KA, Andrews L, Haass NK, Moloney FJ. Multiple desmoplastic melanomas in Birt-Hogg-Dubé syndrome and a proposed signaling link between folliculin, the mTOR pathway, and melanoma susceptibility. Arch Dermatol. 2010;146:1316–8. [PubMed: 21079084]
Collodet C, Foretz M, Deak M, Bultot L, Metairon S, Viollet B, Lefebvre G, Raymond F, Parisi A, Civiletto G, Gut P, Descombes P, Sakamoto K. AMPK promotes induction of the tumor suppressor FLCN through activation of TFEB independently of mTOR. FASEB J. 2019;33:12374–91. [PMC free article: PMC6902666] [PubMed: 31404503]
da Silva NF, Gentle D, Hesson LB, Morton DG, Latif F, Maher ER. Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer. J Med Genet. 2003;40:820–4. [PMC free article: PMC1735328] [PubMed: 14627671]
Dong L, Gao M, Hao WJ, Zheng XQ, Li YG, Li XL, Yu Y. Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer. Medicine (Baltimore). 2016;95:e3695. [PMC free article: PMC4900704] [PubMed: 27258496]
Drummond C, Grigoris I, Dutta B. Birt-Hogg-Dubé syndrome and multinodular goitre. Australas J Dermatol. 2002;43:301–4. [PubMed: 12423440]
Fontcuberta IC, Salomão DR, Quiram PA, Pulido JS. Choroidal melanoma and lid fibrofoliculomas in Birt-Hogg-Dubé syndrome. Ophthalmic Genet. 2011;32:143–6. [PubMed: 21401403]
Furuya M, Yao M, Tanaka R, Nagashima Y, Kuroda N, Hasumi H, Baba M, Matsushima J, Nomura F, Nakatani Y. Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. Clin Genet. 2016;90:403–12. [PubMed: 27220747]
Gambichler T, Wolter M, Altmeyer P, Hoffman K. Treatment of Birt-Hogg-Dubé syndrome with erbium:YAG laser. J Am Acad Dermatol. 2000;43:856–8. [PubMed: 11050594]
Gijezen LM, Vernooij M, Matens H, Oduber CE, Henquet CJ, Starink TM, Prins MH, Menko FH, Nelemans PJ, van Steensel MA. Topical rapamycin as a treatment for fibrofolliculomas in Birt- Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial. PLos One. 2014;9:e99071. [PMC free article: PMC4049818] [PubMed: 24910976]
Gupta N, Kopras EJ, Henske EP, James LE, El-Chemaly S, Veeraraghavan S, Drake MG, McCormack FX. Spontaneous Pneumothoraces in Patients with Birt-Hogg-Dubé Syndrome. Ann Am Thorac Soc. 2017;14:706–13. [PMC free article: PMC5427741] [PubMed: 28248571]
Haley R, Wang Y, Zhou Z. The small GTPase RAB-35 defines a third pathway that is required for the recognition and degradation of apoptotic cells. PLoS Genet. 2018;14:e1007558. [PMC free article: PMC6107108] [PubMed: 30138370]
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. [PubMed: 1200700]
Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH, de Jong MM, Bongers EM, Johannesma PC, Postmus PE, van Moorselaar RJ, van Waesberghe JH, Starink TM, van Steensel MA, Gille JJ, Menko FH. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer. 2011;105:1912–9. [PMC free article: PMC3251884] [PubMed: 22146830]
Iwabuchi C, Ebana H, Ishiko A, Negishi A, Mizobuchi T, Kumasaka T, Kurihara M, Seyama K. Skin lesions of Birt-Hogg-Dubé syndrome: Clinical and histopathological findings in 31 Japanese patients who presented with pneumothorax and/or multiple lung cysts. J Dermatol Sci. 2018;89:77–84. [PubMed: 29157599]
Jacob CI, Dover JS. Birt-Hogg-Dube syndrome: treatment of cutaneous manifestations with laser skin resurfacing. Arch Dermatol. 2001;137:98–99. [PubMed: 11176677]
Johannesma PC, van de Beek I, van der Wel JW, Paul MA, Houweling AC, Jonker MA, van Waesberghe JH, Reinhard R, Starink TM, van Moorselaar RJ, Menko FH, Postmus PE. Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome. Springerplus. 2016;5:1506. [PMC free article: PMC5014776] [PubMed: 27652079]
Johannesma PC, van de Beek I, van der Wel TJWT, Reinhard R, Rozendaal L, Starink TM, van Waesberghe JHTM, Horenblas S, Gille HJJP, Jonker MA, Meijers-Heijboer HEJ, Postmus PE, Houweling AC, van Moorselaar JRA. Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcome. PLoS One. 2019;14:e0212952. [PMC free article: PMC6405080] [PubMed: 30845233]
Kahle B, Hellwig S, Schulz T. Multiple mantleomas in Birt-Hogg-Dubé syndrome: successful therapy with CO2 laser. Hautarzt. 2001;52:43–6. [PubMed: 11220238]
Kayhan G, Yılmaz Demirci N, Turktas H, Ergun MA. Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene. Genet Test Mol Biomarkers. 2017;21:632–4. [PubMed: 28805452]
Khoo SK, Giraud S, Kahnoski K, Chen J, Motorna O, Nickolov R, Binet O, Lambert D, Friedel J, Levy R, Ferlicot S, Wolkenstein P, Hammel P, Bergerheim U, Hedblad MA, Bradley M, Teh BT, Nordenskjold M, Richard S. Clinical and genetic studies of Birt-Hogg-Dubé syndrome. J Med Genet. 2002;39:906–12. [PMC free article: PMC1757219] [PubMed: 12471204]
Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjold M, Teh BT. Inactivation of BHD in sporadic renal tumors. Cancer Res. 2003;63:4583–7. [PubMed: 12907635]
Kluger N, Giraud S, Coupier I, Avril MF, Dereure O, Guillot B, Richard S, Bessis D. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. Br J Dermatol. 2010;162:527–37. [PubMed: 19785621]
Kunogi M, Kurihara M, Ikegami TS, Kobayashi T, Shindo N, Kumasaka T, Gunji Y, Kikkawa M, Iwakami S, Hino O, Takahashi K, Seyama K. 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. [PMC free article: PMC2981024] [PubMed: 20413710]
Kuroda N, Furuya M, Nagashima Y, Gotohda H, Kawakami F, Moritani S, Ota S, Hora M, Michal M, Hes O, Nakatani Y. Review of renal tumors associated with Birt-Hogg-Dubé syndrome with focus on clinical and pathobiological aspects. Pol J Pathol. 2014;65:93–9. [PubMed: 25119168]
Laviolette LA, Mermoud J, Calvo IA, Olson N, Boukhali M, Steinlein OK, Roider E, Sattler EC, Huang D, Teh BT, Motamedi M, Haas W, Iliopoulos O. Negative regulation of EGFR signalling by the human folliculin tumour suppressor protein. Nat Commun. 2017;8:15866. [PMC free article: PMC5493755] [PubMed: 28656962]
Lawrence B, Blenkiron C, Parker K, Tsai P, Fitzgerald S, Shields P, Robb T, Yeong ML, Kramer N, James S, Black M, Fan V, Poonawala N, Yap P, Coats E, Woodhouse B, Ramsaroop R, Yozu M, Robinson B, Henare K, Koea J, Johnston P, Carroll R, Connor S, Morrin H, Elston M, Jackson C, Reid P, Windsor J, MacCormick A, Babor R, Bartlett A, Damianovich D, Knowlton N, Grimmond S, Findlay M, Print C. Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer. NPJ Genom Med. 2018;3:18. [PMC free article: PMC6054670] [PubMed: 30062048]
Lindor NM, Hand J, Burch PA, Gibson LE. Birt-Hogg-Dube syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. Int J Dermatol. 2001;2001;40:653–6. [PubMed: 11737429]
Lindor NM, Kasperbauer J, Lewis JE, Pittelkow M. Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. Hered Cancer Clin Pract. 2012;10:13. [PMC free article: PMC3492097] [PubMed: 23050938]
Linehan WM, Grubb RL, Coleman JA, Zbar B, Walther MM. The genetic basis of cancer of kidney cancer: implications for gene-specific clinical management. BJU Int. 2005;95 Suppl 2:2–7. [PubMed: 15720328]
Maffé A, Toschi B, Circo G, Giachino D, Giglio S, Rizzo A, Carloni A, Poletti V, Tomassetti S, Ginardi C, Ungari S, Genuardi M. Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. Clin Genet. 2011;79:345–54. [PubMed: 20618353]
Martínez-Carreres L, Puyal J, Leal-Esteban LC, Orpinell M, Castillo-Armengol J, Giralt A, Dergai O, Moret C, Barquissau V, Nasrallah A, Pabois A, Zhang L, Romero P, Lopez-Mejia IC, Fajas L. CDK4 regulates lysosomal function and mTORC1 activation to promote cancer cell survival. Cancer Res. 2019;79:5245–59. [PMC free article: PMC7611450] [PubMed: 31395606]
Mathieu J, Detraux D, Kuppers D, Wang Y, Cavanaugh C, Sidhu S, Levy S, Robitaille AM, Ferreccio A, Bottorff T, McAlister A, Somasundaram L, Artoni F, Battle S, Hawkins RD, Moon RT, Ware CB, Paddison PJ, Ruohola-Baker H. Folliculin regulates mTORC1/2 and WNT pathways in early human pluripotency. Nat Commun. 2019;10:632. [PMC free article: PMC6367455] [PubMed: 30733432]
Mendez JL, Nadrous HF, Vassallo R, Decker PA, Ryu JH. Pneumothorax in pulmonary Langerhans cell histiocytosis. Chest. 2004;125:1028–32. [PubMed: 15006964]
Meng J, Ferguson SM. GATOR1-dependent recruitment of FLCN-FNIP to lysosomes coordinates Rag GTPase heterodimer nucleotide status in response to amino acids. J Cell Biol. 2018;217:2765–76. [PMC free article: PMC6080935] [PubMed: 29848618]
Menko FH, van Steensel MA, Giraud S, Friis Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER, European BHD. Consortium. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009;10:1199–206. [PubMed: 19959076]
Mota-Burgos A, Acosta EH, Márquez FV, Mendiola M, Herrera-Ceballos E. Birt-Hogg-Dubé syndrome in a patient with melanoma and a novel mutation in the FCLN gene. Int J Dermatol. 2013;52:323–6. [PubMed: 23414156]
Motegi SI, Sekiguchi A, Fujiwara C, Yamazaki S, Nakano H, Sawamura D, Ishikawa O. A case of Birt-Hogg-Dubé syndrome accompanied by colon polyposis and oral papillomatosis. Eur J Dermatol. 2018;28:720–1. [PubMed: 30325331]
Nadershahi NA, Wescott WB, Egbert B. Birt-Hogg-Dubé syndrome: a review and presentation of the first case with oral lesions. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1997;83:496–500. [PubMed: 9127384]
Nahorski MS, Lim DH, Martin L, Gille JJ, McKay K, Rehal PK, Ploeger HM, van Steensel M, Tomlinson IP, Latif F, Menko FH, Maher ER. Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. J Med Genet. 2010;47:385–90. [PubMed: 20522427]
Palmirotta R, Donati P, Savonarola A, Cota C, Ferroni P, Guadagni F. Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene. Eur J Dermatol. 2008;18:382–6. [PubMed: 18573707]
Panagiotidis E, Seshadri N, Vinjamuri S. Renal Manifestation of Birt-Hogg-Dubé Syndrome Depicted by 18F-fludeoxyglucose Positron Emission Tomography/Computed Tomography in a Patient with Hurtle Cell Thyroid Malignancy. World J Nucl Med. 2018;17:123–5. [PMC free article: PMC5905258] [PubMed: 29719489]
Pavlovich CP, Grubb RL 3rd, Hurley K, Glenn GM, Toro J, Schmidt LS, Torres-Cabala C, Merino MJ, Zbar B, Choyke P, Walther MM, Linehan WM. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol. 2005;173:1482–6. [PubMed: 15821464]
Pérez García L, Antón Miguel MÁ, Fuentes Gómez CR. Medullary thyroid carcinoma in a patient with Birt-Hogg-Dube syndrome. Med Clin (Barc). 2017;148:528–9. [PubMed: 28242119]
Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR. UK10K Consortium, Hurles ME. Timing, rates and spectra of human germline mutation. Nat Genet. 2016;48:126–33. [PMC free article: PMC4731925] [PubMed: 26656846]
Rossing M, Albrechtsen A, Skytte AB, Jensen UB, Ousager LB, Gerdes AM, Nielsen FC, Hansen T. Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. J Hum Genet. 2017;62:151–7. [PubMed: 27734835]
Sattler EC, Ertl-Wagner B, Pellegrini C, Peris K, Reithmair M, Schädle N, Ruzicka T, Steinlein OK. Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum? Br J Dermatol. 2018a;178:e132–e133. [PubMed: 28869776]
Sattler EC, Reithmair M, Steinlein OK. Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndrome. PLoS One. 2018b;13:e0209504. [PMC free article: PMC6306193] [PubMed: 30586397]
Schmidt LS, Linehan WM. Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome. Nat Rev Urol. 2015;12:558–69. [PMC free article: PMC5119524] [PubMed: 26334087]
Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet. 2005;76:1023–33. [PMC free article: PMC1196440] [PubMed: 15852235]
Schneider M, Dinkelborg K, Xiao X, Chan-Smutko G, Hruska K, Huang D, Sagar P, Harisinghani M, Iliopoulos O. Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion. Fam Cancer. 2018;17:135–9. [PubMed: 28623476]
Schulz T, Hartschuh W. Birt-Hogg-Dubé syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology. J Cutan Pathol. 1999;26:55–61. [PubMed: 10189247]
Sempau L, Ruiz I, González-Morán A, Susanna X, Hansen TV. New mutation in the Birt Hogg Dube gene. Actas Dermosifiliogr. 2010;101:637–40. [PubMed: 20858390]
Stamatakis L, Metwalli AR, Middelton LA, Marston Linehan W. Diagnosis and management of BHD-associated kidney cancer. Fam Cancer. 2013;12:397–402. [PMC free article: PMC4175415] [PubMed: 23703644]
Tellechea O, Cardoso JC, Reis JP, Ramos L, Gameiro AR, Coutinho I, Baptista AP. Benign follicular tumors. An Bras Dermatol. 2015;90:780–96. [PMC free article: PMC4689065] [PubMed: 26734858]
Tong Y, Schneider JA, Coda AB, Hata TR, Cohen PR. Birt-Hogg-Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms. Am J Clin Dermatol. 2018;19:87–101. [PubMed: 28695430]
Toro JR, Glenn G, Duray P, Darling T, Weirich G, Zbar B, Linehan M, Turner ML. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol. 1999;135:1195–202. [PubMed: 10522666]
Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA, Steinberg SM, Schmidt LS, Linehan WM. 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;45:321–31. [PMC free article: PMC2564862] [PubMed: 18234728]
Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261–8. [PMC free article: PMC2933058] [PubMed: 14970275]
Welsch MJ, Krunic A, Medenica MM. Birt-Hogg-Dubé Syndrome. Int J Dermatol. 2005;44:668–73. [PubMed: 16101870]
Yan M, Gingras MC, Dunlop EA, Nouët Y, Dupuy F, Jalali Z, Possik E, Coull BJ, Kharitidi D, Dydensborg AB, Faubert B, Kamps M, Sabourin S, Preston RS, Davies DM, Roughead T, Chotard L, van Steensel MA, Jones R, Tee AR, Pause A. The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation. J Clin Invest. 2014;124:2640–50. [PMC free article: PMC4038567] [PubMed: 24762438]
Yoshida K, Miyagawa M, Kido T, Ide K, Sano Y, Sugawara Y, Takahata H, Monden N, Furuya M, Mochizuki T. Parotid Oncocytoma as a Manifestation of Birt-Hogg-Dubé Syndrome. Case Rep Radiol. 2018;2018:6265175. [PMC free article: PMC6008813] [PubMed: 29971177]
Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, Walther M, Choyke P, Weirich G, Hewitt SM, Duray P, Gabril F, Greenberg C, Merino MJ, Toro J, Linehan WM. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev. 2002;11:393–400. [PubMed: 11927500]
Zhao L, Ji X, Zhang X, Li L, Jin Y, Liu W. FLCN is a novel Rab11A-interacting protein that is involved in the Rab11A-mediated recycling transport. J Cell Sci. 2018:131. [PubMed: 30446510]