Birt-Hogg-Dube syndrome (BHD; MIM 135150) also known as Hornstein-Knickenberg syndrome, is an autosomal dominant genodermatosis. It is characterized by cutaneous findings (fibrofolliculomas and acrochordons), pulmonary cysts and spontaneous pneumothorax, and renal cysts and tumors. Additional findings may include facial papules, intestinal polyposis, colorectal adenomas, parotid oncocytomas, neural tissue tumors, lipomas, and angiolipomas. BDH is caused by mutations in the FLCN gene, which codes for folliculin. Some individuals with primary spontaneous pneumothorax (PSP; MIM 173600) can have dominant mutations in FLCN. Most of these individuals also have bullous lung lesions. Spontaneous pneumothorax can be a finding in certain connective tissue disorders including Marfan syndrome, type I (MFS1; MIM 154700) and Ehlers-Danlos syndrome, type IV (EDS IV; MIM 130050). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (MIM 613490).. Read less ...
TY - JOUR. T1 - Absence of the Birt-Hogg-Dube gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. AU - Preston,R. S.. AU - Philp,A.. AU - Claessens,T.. AU - Gijezen,L.. AU - Dydensborg,A. B.. AU - Dunlop,E. A.. AU - Harper,K. T.. AU - Brinkhuizen,T.. AU - Menko,F. H.. AU - Davies,D. M.. AU - Land,S.C.. AU - Pause,A.. AU - Baar,K.. AU - van Steensel,Maurice. AU - Tee,A. R.. PY - 2011. Y1 - 2011. N2 - Under conditions of reduced tissue oxygenation, hypoxia-inducible factor (HIF) controls many processes, including angiogenesis and cellular metabolism, and also influences cell proliferation and survival decisions. HIF is centrally involved in tumour growth in inherited diseases that give rise to renal cell carcinoma (RCC), such as Von Hippel-Lindau syndrome and tuberous sclerosis complex. In this study, we examined whether HIF is involved in tumour formation of RCC in Birt-Hogg-Dube syndrome. For this, we analysed a ...
Lattouf et al., 2016. Structured assessment and followup for patients with hereditary kidney tumour syndromes. [Open Access PDF] [PMID: 28255411]. Hasumi et al., 2016. H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation. [PMID: 28007907]. Castellucci et al., 2016. Multiple chromophobe and clear cell renal cancer in a patient affected by Birt-Hogg-Dubè syndrome: a case report. [PMID: 28009417]. Wiyono et al., 2016. Birt-Hogg-Dubé syndrome in an Indonesian patient with folliculin gene mutation. [Open Access PDF] [PMID: 28031834]. Monserrate et al., 2016. A Case of Birt-Hogg-Dubé, Presenting With Recurrent Pneumothorax, Managed With Intrabronchial Valve Placement. [PMID: 27984390]. Tanegashima et al., 2016. Clinical features of Birt-Hogg-Dubé syndrome: A Japanese case with pulmonary cysts, fibrofolliculomas and renal cell carcinoma. [PMID: 27943432]. Radzikowska et al., 2016. Familial pneumothoraces: Birt-Hogg-Dubé syndrome. [Open Access ...
Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]. Hornstein, 1976. Generalized dermal perifollicular fibromas with polyps of the colon. Hum Genet, 33 (2), 193-7 [PMID: 939573]. Birt et al., 1977. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol, 113 (12), 1674-7 [PMID: 596896]. Khoo et al., 2002. Clinical and genetic studies of Birt-Hogg-Dubé syndrome. J Med Genet, 39 (12), 906-12 [PMID: 12471204] [BHD Article Library]. Nahorski et al., 2010. Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. J Med Genet, 47 (6), 385-90 [PMID: 20522427]. Liu et al., 2000. Parotid oncocytoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol, 43 (6), 1120-2 [PMID: 11100034]. Schmidt et al., 2005. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum ...
Groshi,. I am not a geneticist, so this is only supposition on my part.. I am Dutch by birth and live in Australia. I find it interesting that when I research kidney disease on the web, the Dutch experience is all about the genetic syndromes such as von-Hippel Lindau disease, and an early diognosis by one of my radiologists was possible Birt-Hogg-Dube syndrome, which was never followed up as I enrolled in a clinical trial of combination immunotherapy, which seems to have worked. These things are far less commonly mentioned in the US medical literature, although you will find them if you look hard enough.. So I wonder if perhaps some populations such as North-Western Europeans have something in their genetic make-up, or if there is (or has been) a broad environmental exposure (would have to be early age for me) that triggers a latent genetic susceptibity we all have? Food for thought and at some time in the future science will no doubt be able to answer these questions. So an epidemiological ...
Renal oncocytosis is a rare condition in which the kidney develops numerous oncocytomas. We present a case of a 12-year-old female who presented with right-sided flank pain of one-year duration. Imaging revealed several masses in the right kidney. Tissue biopsy confirmed multiple benign oncocytomas. Due to the presence of multiple oncocytomas throughout the kidney, a radical nephrectomy was performed. Given the rarity of this condition, as well as its known association with von Hippel-Lindau disease and Birt-Hogg-Dube syndrome, genetic investigations were pursued but failed to identify any abnormalities. This patient remains well and disease free six years after surgery. A review of the literature of this rare condition was performed.
Birt-Hogg-Dube Syndrome (BHDS) is a rare genetic disorder in humans characterized by increased risk for renal tumors. BHDS is caused by mutations in the BHD gene, which encodes for Folliculin, and cytoplasmic adapter ...
Human FLCN partial ORF ( NP_653207, 198 a.a. - 296 a.a.) recombinant protein with GST-tag at N-terminal. (H00201163-Q01) - Products - Abnova
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The Birt-Hogg-Dube disease occurs as a result of germline mutations in the human Folliculin gene (FLCN), and is characterized by clinical features including fibrofolliculomas, lung cysts and multifocal renal neoplasia. Clinical and genetic evidence suggest that FLCN acts as a tumor suppressor gene. The human cell line UOK257, derived from the renal cell carcinoma of a patient with a germline mutation in the FLCN gene, harbors a truncated version of the FLCN protein. Reconstitution of the wild type FLCN protein into UOK257 cells delays cell cycle progression, due to a slower progression through the late S and G2/M-phases. Similarly, Flcn-/- mouse embryonic fibroblasts progress more rapidly through the cell cycle than wild type controls (Flcnflox/flox). The reintroduction of tumor-associated FLCN mutants (FLCN DF157, FLCN 1-469 or FLCN K508R) fails to delay cell cycle progression in UOK257 cells. Additionally, FLCN phosphorylation (on Serines 62 and 73) fluctuates throughout the cell cycle and ...
An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome.
A variety of different tumors have been described associated with BHDS. This is the first case report of a patient with BHDS developing choroidal melanoma. Careful examination of the lids is important to identify fibrofolliculomas.
This gene encodes a protein that binds to the tumor suppressor protein folliculin and to AMP-activated protein kinase (AMPK). The encoded protein participates in the regulation of cellular metabolism and nutrient sensing by modulating the AMPK and target of rapamycin signaling pathways. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017 ...
Fibrofolliculomas are 2 to 4 mm in diameter, dome-shaped, yellowish or skin-colored papules usually located on the head, neck, and upper trunk. They are characteristically seen in Birt-Hogg-Dubé syndrome. Trichodiscoma List of cutaneous conditions List of cutaneous neoplasms associated with systemic syndromes Freedberg, et al. (2003). Fitzpatricks Dermatology in General Medicine. (6th ed.). Page 994. McGraw-Hill. ISBN 0-07-138076-0. James, William D.; Berger, Timothy G.; et al. (2006). Andrews Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0 ...
The microphthalmia family (MITF, TFEB, TFE3, and TFEC) of transcription factors is emerging as global regulators of cancer cell survival and energy metabolism, both through the promotion of lysosomal genes as well as newly characterized targets, such as oxidative metabolism and the oxidative stress response. In addition, MiT/TFE factors can regulate lysosomal signaling, which includes the mTORC1 and Wnt/β-catenin pathways, which are both substantial contributors to oncogenic signaling. This review describes recent discoveries in MiT/TFE research and how they impact multiple cancer subtypes. Furthermore, the literature relating to TFE-fusion proteins in cancers and the potential mechanisms through which these genomic rearrangements promote tumorigenesis is reviewed. Likewise, the emerging function of the Folliculin (FLCN) tumor suppressor in negatively regulating the MiT/TFE family and how loss of this pathway promotes cancer is examined. Recent reports are also presented that relate to the role ...
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RATIONALE: In female patients, the etiologies of spontaneous pneumothorax are more various than those in male patients, because diseases specific to female, such as lymphangioleiomyomatosis (LAM) and catamenial pneumothorax (CP), exist. To our knowledge, there have been no reports concerning the usefulness of the chest computed tomographic (CT) findings in female patients with spontaneous pneumothorax in the differentiation of potential causes.. METHODS: We retrospectively reviewed the characteristics of the chest CT findings in consecutive 129 female patients with spontaneous pneumothorax in whom the definitive diagnosis was obtained by pathological analysis or genetic testing.. RESULTS: The number of patients with primary spontaneous pneumothorax (PSP), CP, Birt-Hogg-Dubé syndrome (BHDS), and LAM were 53, 42, 19 and 15, respectively. The mean age of patients with PSP, CP, BHDS and LAM were 32.1, 38.7, 46.3 and 37.1 years old, respectively. In CP, only one patient experienced left-sided ...
Primary spontaneous pneumothorax (PSP), or collapsed lung, results from the presence of air in the pleural space in the absence of a precipitating event such as trauma or lung disease. Affected individuals have subpleural blebs or bullae in the lungs (localized emphysema-like changes) that are associated with destruction of lung tissue. The majority of cases are sporadic. Isolated familial PSP is rarer, and has been associated with mutations in the FLCN gene in a small number of families ...
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Postdoctoral Research Assistant (Dec 2012- present) Pulmonary Cyst Development in BHD Syndrome, Division of Cardiovascular and Diabetes Medicine, Ninewells Hospital ..
Csh1 245 -3.31E+00 Melk 246 -3.30E+00 1459742_at 247 -3.30E+00 Nmnat3 248 -3.30E+00 A930015G24Rik 249 -3.29E+00 2810417H13Rik 250 -3.29E+00 Mrgprb1 251 -3.29E+00 1700061G19Rik 252 -3.29E+00 1459554_at 253 -3.28E+00 14378G7_at 254 -3.27E+00 Ceacam13 255 -3.27E+00 A130019P10Rik 256 -3.27E+00 Aqp11 257 -3.27E+00 2310047C04Rik 258 -3.27E+00 Dpp4 259 -3.27E+00 Otud1 260 -3.27E+00 1442468_at 261 -3.26E+00 B230101F01Rik 262 -3.26E+00 Tal2 263 -3.26E+00 Cplx1 264 -3.26E+00 Slc25a27 265 -3.26E+00 Spsb4 266 -3.25E+00 Mtm1 267 -3.25E+00 Bambi-ps1 268 -3.25E+00 1432510_ai 269 -3.25E+00 Pcmtd2 270 -3.25E+00 Clec2h 271 -3.24E+00 4930535E21Rik 272 -3.24E+00 1457234_at 273 -3.24E+00 Gm172 274 -3.23E+00 Gm996 275 -3.22E+00 E130014H08Rik 276 -3.22E+00 H2afy2 277 -3.22E+00 Defb3 278 -3.21E+00 Rbbp8 279 -3.20E+00 Dnase1l2 280 -3.19E+00 Sesn1 281 -3.19E+00 Accn3 282 -3.18E+00 4921537P18Rik 283 -3.18E+00 Hsd17b13 284 -3.18E+00 1810044A24Rik 285 -3.18E+00 Gas5 286 -3.18E+00 Flcn 287 -3.17E+00 Igh-4///Igh-6///Igh-V 288 ...
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Discussion: Renal oncocytoma is a benign renal neoplasm which comprises 3-7 percent of adult kidney tumors. One half to two-thirds of these lesions are found incidentally. However, they can present with hematuria, flank pain and be palpable on clinical examination. Occasionally large bilateral tumors can present as renal failure. Oncocytomas have been reported in patients with Birt-Hogg-Dube and Von-Hippel Lindau syndromes. The most common cytogenetic abnormalities include loss of chromosomes 1 and y and translocations of 11q13. In very rare cases, both kidneys show diffuse involvement with macroscopic and microscopic oncocytoma, chromophobe renal cell carcinomas, and hybrid tumors with oncocytic changes of the adjacent renal tubules epithelium. These cases have been termed renal oncocytosis. The major differential diagnosis to consider is chromophobe renal cell carcinoma. Compared to oncocytoma, chromophobe renal cell carcinoma shows nuclear hyperchromasia with nuclear membrane irregularities. ...
A brief introduction to radiographs and chest CT scans for the diagnosis of cystic lung diseases.  Lymphangioleiomyomatosis (LAM) is the focus – including diagnosis of the disease and its complications.  Other cystic lung diseases such as Langerhans Histiocytosis, Birt-Hogg-Dube and Lymphocytic Interstitial Pneumonia (LIP) will also be mentioned.
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Diffuse cystic lung diseases are characterized by cysts in more than one lung lobe, the cysts originating from various mechanisms, including the expansion of the distal airspaces due to airway obstruction, necrosis of the airway walls, and parenchymal destruction. The progression of these diseases is variable. One essential tool in the evaluation of these diseases is HRCT, because it improves the characterization of pulmonary cysts (including their distribution, size, and length) and the evaluation of the regularity of the cyst wall, as well as the identification of associated pulmonary and extrapulmonary lesions ...
Acts as a co-chaperone of HSP90AA1. Inhibits the ATPase activity of HSP90AA1 leading to reduction in its chaperone activity. Facilitates the binding of client protein FLCN to HSP90AA1 (PubMed:27353360). May play a role in the signal transduction pathway of apoptosis induced by O6-methylguanine-mispaired lesions (By similarity). May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways (PubMed:18403135). May regulate phosphorylation of RPS6KB1 (PubMed:18663353).
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... is a rare type of kidney cancer that develops in cells that are involved in the production of urine. Cancers form when a change (mutation) in DNA causes certain cells to grow out of control, sometimes forming a lump or a tumor. Some of these cancerous cells can break off and spread to other parts of the body where they will continue to grow (metastasis). Chromophobe renal cell carcinoma usually occurs in adults between the ages of 40 and 60, although it can appear in all age groups. This type of carcinoma is associated with Birt-Hogg-Dubé syndrome, an inherited disorder caused by a mutation in the FLCN gene. The FLCN gene is involved in regulating cell growth, and a mutation in this gene can cause cells to grow out of control. This situation places affected individuals at higher risk of developing chromophobe renal cell carcinoma as well as noncancerous growths in the kidneys, lungs, and hair follicles. Common symptoms include the presence of blood in the urine, ...
... is a rare type of kidney cancer that develops in cells that are involved in the production of urine. Cancers form when a change (mutation) in DNA causes certain cells to grow out of control, sometimes forming a lump or a tumor. Some of these cancerous cells can break off and spread to other parts of the body where they will continue to grow (metastasis). Chromophobe renal cell carcinoma usually occurs in adults between the ages of 40 and 60, although it can appear in all age groups. This type of carcinoma is associated with Birt-Hogg-Dubé syndrome, an inherited disorder caused by a mutation in the FLCN gene. The FLCN gene is involved in regulating cell growth, and a mutation in this gene can cause cells to grow out of control. This situation places affected individuals at higher risk of developing chromophobe renal cell carcinoma as well as noncancerous growths in the kidneys, lungs, and hair follicles. Common symptoms include the presence of blood in the urine, ...
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This research trial studies kidney tumors in younger patients. Collecting and storing samples of tumor tissue, blood, and urine from patients with cancer
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Fröhlich, B A; Zeitz, C; Mátyás, G; Alkadhi, H; Tuor, C; Berger, W; Russi, E W (2008). Novel mutations in the folliculin gene associated with spontaneous pneumothorax. European Respiratory Journal, 32(5):1316-1320.. Berger, W (2008). Mouse models of norrie disease. In: Chalupa, L M; Williams, R W. Eye, Retina, and Visual System of the Mouse. Cumberland: Harvard University Press, 527-537.. Zorzetto, M; Russi, E; Senn, O; Imboden, M; Ferrarotti, I; Tinelli, C; Campo, I; Ottaviani, S; Scabini, R; von Eckardstein, A; Berger, W; Brändli, O; Rochat, T; Luisetti, M; Probst-Hensch, N; Sapaldia, Team (2008). SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clinical Chemistry, 54(8):1331-1338.. Reimann, C; Kloeckener-Gruissem, B; Niemeyer, C M; Vanscheidt, W (2008). Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man. Journal of the European Academy of Dermatology and Venereology, ...
- Study met primary endpoint of kidney tumor response rate with 42 of patients on everolimus experiencing a response versus 0 on placebo(1) - Kidney tumors are
In a stunning example of when treatment might be worse than the disease, a large review of Medicare records finds that older people with small kidney tumors were much less likely to die over the next five years if doctors monitored them instead of operating right away.
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Background: Mediastinal and pleural tubes are routinely employed following cardiac surgery to prevent accumulation of blood and fluids in the mediastinum or the pleural cavities. Recurrent pneumothorax is the most significant complication after chest tube discontinuation. We reviewed the occurrence of post pull pneumothorax after adult cardiac surgical procedures in our hospital. Methods: A retrospective study of patients undergoing various cardiac surgical procedures over a five year period was performed. The principle outcome was recurrent pneumothorax after chest tube discontinuation. Results: 8900 patients underwent cardiac surgical procedures in the five- year study period. There were 6236 males and 2542 women with a mean age of 66,5 years. One hundred and twenty-two patients suffered postoperative pneumothorax for an overall incidence of 1,4%. Twenty-one of 122 patients developed a pneumothorax of variable size following chest tube removal for an overall incidence of 0,23%. Sixteen ...
Illustration of the female genitalia and the pituitary gland, which produces FSH (folliculin) and LH (luteinizing hormone) that act on the reproductive organs, stimulate reproduction and the secretion of sex hormones. - Stock Image C035/4677
What is Wilms Tumor and Other Childhood Kidney Tumors? Get the facts about Wilms Tumor and Other Childhood Kidney Tumors symptoms, testing, treatment and care options from trusted sources.
RATIONALE: Using fluorescence imaging may determine the extent of kidney tumors and help in planning surgery. PURPOSE: This phase I trial is studying the best...