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https://www.readbyqxmd.com/read/28326182/birt-hogg-dub%C3%A3-syndrome-a-case-report-and-a-review-of-the-literature
#1
REVIEW
Dea Kejlberg Jensen, Anders Villumsen, Anne-Bine Skytte, Mia Gebauer Madsen, Mette Sommerlund, Elisabeth Bendstrup
Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited syndrome caused by mutations in the folliculin coding gene (FLCN). The clinical manifestations of the syndrome involve the skin, lungs, and kidneys. Because of the rarity of the syndrome, guidelines for diagnosis and management of the patients with BHDS are lacking. Objective: To present a case story and a review of the literature on BHDS in order to give an update on genetics, clinical manifestations, diagnosis, treatment, prognosis and follow-up strategies...
2017: European Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28264540/diagnosis-and-treatment-of-cystic-lung-disease
#2
REVIEW
Sanghoon Park, Eun Joo Lee
Cystic lung disease (CLD) is a group of lung disorders characterized by the presence of multiple cysts, defined as air-filled lucencies or low-attenuating areas, bordered by a thin wall (usually < 2 mm). The recognition of CLDs has increased with the widespread use of computed tomography. This article addresses the mechanisms of cyst formation and the diagnostic approaches to CLDs. A number of assessment methods that can be used to confirm CLDs are discussed, including high-resolution computed tomography, pathologic approaches, and genetic/ serologic markers, together with treatment modalities, including new therapeutic drugs currently being evaluated...
March 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28255411/structured-assessment-and-followup-for-patients-with-hereditary-kidney-tumour-syndromes
#3
Jean-Baptiste Lattouf, Stephen E Pautler, M Neil Reaume, Raymond H Kim, Melanie Care, Jane Green, Alan So, Philippe D Violette, Issam Saliba, Philippe Major, Shane Silver, Richard Leicht, Joan Basiuk, Simon Tanguay, Michael A S Jewett, Darrel Drachenberg
INTRODUCTION: Optimal clinical assessment and subsequent followup of patients with or suspected of having a hereditary renal cell carcinoma syndrome (hRCC) is not standardized and practice varies widely. We propose protocols to optimize these processes in patients with hRCC to encourage a more uniform approach to management that can then be evaluated. METHODS: A review of the literature, including existing guidelines, was carried out for the years 1985-2015. Expert consensus was used to define recommendations for initial assessment and followup...
July 2016: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28248571/spontaneous-pneumothoraces-in-patients-with-birt-hogg-dub%C3%A3-syndrome
#4
Nishant Gupta, Elizabeth J Kopras, Elizabeth P Henske, Laura E James, Souheil El-Chemaly, Srihari Veeraraghavan, Matthew G Drake, Francis X McCormack
RATIONALE: Spontaneous pneumothorax is a common complication of Birt-Hogg-Dubé syndrome (BHD). The optimal approach to treatment and prevention of BHD-associated spontaneous pneumothorax, and to advising BHD patients regarding risk of pneumothorax associated with air travel is not well established. METHODS: Patients with BHD were recruited from the Rare Lung Diseases Clinic Network and the BHD Foundation, and surveyed about disease manifestations and air travel experiences...
March 1, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28222720/birt-hogg-dub%C3%A3-syndrome-a-literature-review-and-case-study-of-a-chinese-woman-presenting-a-novel-flcn-mutation
#5
Shengyu Hao, Fei Long, Fenglan Sun, Teng Liu, Daowei Li, Shujuan Jiang
BACKGROUND: The Birt-Hogg-Dubé (BHD) syndrome is a very rare autosomal dominant form of genodermatosis caused by germline mutations in the folliculin (FLCN) gene, which is mapped to the p11.2 region in chromosome 17. BHD commonly presents cutaneous fibrofolliculomas, pulmonary cysts, renal cell carcinoma, and recurrent pneumothoraxes. The disease is easily ignored or misdiagnosed as pneumothorax, pulmonary lymphangiomyomatosis (LAM), or emphysema. Follow-up and guidelines for managing recurrent pneumothoraxes in these patients are lacking...
February 21, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28151982/birt-hogg-dube-syndrome-prospectively-detected-by-review-of-chest-computed-tomography-scans
#6
Hye Jung Park, Chul Hwan Park, Sang Eun Lee, Geun Dong Lee, Min Kwang Byun, Sungsoo Lee, Kyung-A Lee, Tae Hoon Kim, Seong Han Kim, Seo Yeon Yang, Hyung Jung Kim, Chul Min Ahn
PURPOSE: Birt-Hogg-Dube syndrome (BHD) is a rare disorder caused by mutations in the gene that encodes folliculin (FLCN) and is inherited in an autosomal dominant manner. BHD is commonly accompanied by fibrofolliculomas, renal tumors, multiple pulmonary cysts, and spontaneous pneumothorax. The aim of this study was to detect BHD prospectively in patients undergoing chest computed tomography (CT) scans and to evaluate further the characteristics of BHD in Korea. METHODS: We prospectively checked and reviewed the chest CT scans obtained for 10,883 patients at Gangnam Severance Hospital, Seoul, Korea, from June 1, 2015 to May 31, 2016...
2017: PloS One
https://www.readbyqxmd.com/read/28110467/an-overview-of-autosomal-dominant-tumour-syndromes-with-prominent-features-in-the-oral-and-maxillofacial-region
#7
REVIEW
Robert A Kennedy, Selvam Thavaraj, Salvador Diaz-Cano
Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome)...
January 21, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28069055/novel-germline-mutations-in-flcn-gene-identified-in-two-chinese-patients-with-birt-hogg-dub%C3%A3-syndrome
#8
Teng Li, Xianghui Ning, Qun He, Kan Gong
Birt-Hogg-Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC). Few BHD syndrome cases have been reported in Asian countries, and cutaneous presentations are relatively rare in Asian patients. Asian BHD patients may be misdiagnosed due to their atypical manifestations. Here, we report two Chinese BHD patients with novel FLCN mutations (c...
January 9, 2017: Chinese Journal of Cancer
https://www.readbyqxmd.com/read/28039480/nutrient-induced-fnip-degradation-by-scf%C3%AE-trcp-regulates-flcn-complex-localization-and-promotes-renal-cancer-progression
#9
Katsuyuki Nagashima, Hidefumi Fukushima, Kouhei Shimizu, Aya Yamada, Masumi Hidaka, Hisashi Hasumi, Tetsuro Ikebe, Satoshi Fukumoto, Koji Okabe, Hiroyuki Inuzuka
Folliculin-interacting protein 1 and 2 (FNIP1 and FNIP2) play critical roles in preventing renal malignancy through their association with the tumor suppressor FLCN. Mutations in FLCN are associated with Birt-Hogg-Dubé (BHD) syndrome, a rare disorder with increased risk of renal cancer. Recent studies indicated that FNIP1/FNIP2 double knockout mice display enlarged polycystic kidneys and renal carcinoma, which phenocopies FLCN knockout mice, suggesting that these two proteins function together to suppress renal cancer...
February 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28031834/birt-hogg-dub%C3%A3-syndrome-in-an-indonesian-patient-with-folliculin-gene-mutation
#10
Wiwien Heru Wiyono, Fariz Nurwidya, Hario Baskoro, Andika Chandra Putra
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that affects the skin, kidney, and lungs. Affected individuals have an increased risk of developing multiple cysts in the lungs and a spontaneous pneumothorax. Germline mutations in the folliculin (FLCN) gene have been confirmed as the aetiology of BHD syndrome. A 51-year-old Indonesian female presented with recurrent spontaneous pneumothorax, multiple cysts in both lungs, and a renal cyst on magnetic resonance imaging (MRI). Blood sampling was performed to extract genomic DNA from peripheral blood leucocytes...
November 2016: Respirology Case Reports
https://www.readbyqxmd.com/read/28009417/multiple-chromophobe-and-clear-cell-renal-cancer-in-a-patient-affected-by-birt-hogg-dub%C3%A3-syndrome-a-case-report
#11
Roberto Castellucci, Michele Marchioni, Sergio Valenti, Giusepe Sortino, Giulio Borgonovo, Nicola Pesenti, Alberto C A Vismara, Maria C Circo, Barbara Sessa, Emanuele Micheli, Antonino Lembo
OBJECTIVES: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. The syndrome is linked to mutations in the FLCN gene, which is preferentially expressed in the skin, kidney, and lung. The aim of our paper is to describe a case of multiple bilateral renal cancer in a patient affected by BHDS. CASE PRESENTATION: Patient subjected to enucleoresection seven kidney tumors discovered right after ultrasound performed for other reasons...
December 16, 2016: Urologia
https://www.readbyqxmd.com/read/28007907/h255y-and-k508r-missense-mutations-in-tumour-suppressor-folliculin-flcn-promote-kidney-cell-proliferation
#12
Hisashi Hasumi, Yukiko Hasumi, Masaya Baba, Hafumi Nishi, Mitsuko Furuya, Cathy D Vocke, Martin Lang, Nobuko Irie, Chiharu Esumi, Maria J Merino, Takashi Kawahara, Yasuhiro Isono, Kazuhide Makiyama, Andrew C Warner, Diana C Haines, Ming-Hui Wei, Berton Zbar, Herbert Hagenau, Lionel Feigenbaum, Keiichi Kondo, Noboru Nakaigawa, Masahiro Yao, Adam R Metwalli, W Marston Linehan, Laura S Schmidt
Germline H255Y and K508R missense mutations in the folliculin (FLCN) gene have been identified in patients with bilateral multifocal (BMF) kidney tumours and clinical manifestations of Birt-Hogg-Dubé (BHD) syndrome, or with BMF kidney tumours as the only manifestation; however, their impact on FLCN function remains to be determined. In order to determine if FLCN H255Y and K508R missense mutations promote aberrant kidney cell proliferation leading to pathogenicity, we generated mouse models expressing these mutants using BAC recombineering technology and investigated their ability to rescue the multi-cystic phenotype of Flcn-deficient mouse kidneys...
January 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/27991910/establishment-and-characterization-of-bhd-f59rsvt-an-immortalized-cell-line-derived-from-a-renal-cell-carcinoma-in-a-patient-with-birt-hogg-dub%C3%A3-syndrome
#13
Mitsuko Furuya, Hisashi Hasumi, Masaya Baba, Reiko Tanaka, Yasuhiro Iribe, Takahiro Onishi, Yoji Nagashima, Yukio Nakatani, Yasuhiro Isono, Masahiro Yao
Hereditary renal cell carcinomas (RCCs) are life-threatening disorders not only for the patients but also for their relatives. Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). The protein product, FLCN, functions as a tumor suppressor, and the affected patients have high risks of developing multiple RCCs. The carcinogenic mechanisms stemming from FLCN dysfunction have been investigated using rodent models and human RCC tissues. However, very limited information has been available about in vitro signaling of human renal cells with genetically mutant FLCN...
December 19, 2016: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/27984390/a-case-of-birt-hogg-dub%C3%A3-presenting-with-recurrent-pneumothorax-managed-with-intrabronchial-valve-placement
#14
Angel Monserrate, Mohammed Al-Jaghbeer, Maria Cirino Marcano
No abstract text is available yet for this article.
January 2017: Journal of Bronchology & Interventional Pulmonology
https://www.readbyqxmd.com/read/27913603/the-tumor-suppressor-flcn-mediates-an-alternate-mtor-pathway-to-regulate-browning-of-adipose-tissue
#15
Shogo Wada, Michael Neinast, Cholsoon Jang, Yasir H Ibrahim, Gina Lee, Apoorva Babu, Jian Li, Atsushi Hoshino, Glenn C Rowe, James Rhee, José A Martina, Rosa Puertollano, John Blenis, Michael Morley, Joseph A Baur, Patrick Seale, Zoltan Arany
Noncanonical mechanistic target of rapamycin (mTOR) pathways remain poorly understood. Mutations in the tumor suppressor folliculin (FLCN) cause Birt-Hogg-Dubé syndrome, a hamartomatous disease marked by mitochondria-rich kidney tumors. FLCN functionally interacts with mTOR and is expressed in most tissues, but its role in fat has not been explored. We show here that FLCN regulates adipose tissue browning via mTOR and the transcription factor TFE3. Adipose-specific deletion of FLCN relieves mTOR-dependent cytoplasmic retention of TFE3, leading to direct induction of the PGC-1 transcriptional coactivators, drivers of mitochondrial biogenesis and the browning program...
November 15, 2016: Genes & Development
https://www.readbyqxmd.com/read/27906882/familial-pneumothoraces-birt-hogg-dub%C3%A3-syndrome
#16
Elżbieta Radzikowska, Inga Barańska, Agnieszka Sobczyńska-Tomaszewska, Elżbieta Wiatr, Kazimierz Roszkowski-Śliż
No abstract text is available yet for this article.
November 10, 2016: Polskie Archiwum Medycyny Wewnętrznej
https://www.readbyqxmd.com/read/27905298/haploinsufficiency-of-the-folliculin-gene-leads-to-impaired-functions-of-lung-fibroblasts-in-patients-with-birt-hogg-dub%C3%A3-syndrome
#17
Yoshito Hoshika, Fumiyuki Takahashi, Shinsaku Togo, Muneaki Hashimoto, Takeshi Nara, Toshiyuki Kobayashi, Fariz Nurwidya, Hideyuki Kataoka, Masatoshi Kurihara, Etsuko Kobayashi, Hiroki Ebana, Mika Kikkawa, Katsutoshi Ando, Koichi Nishino, Okio Hino, Kazuhisa Takahashi, Kuniaki Seyama
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant inherited disorder caused by germline mutations in the FLCN gene, and characterized by skin fibrofolliculomas, multiple lung cysts, spontaneous pneumothorax, and renal neoplasms. Pulmonary manifestations frequently develop earlier than other organ involvements, prompting a diagnosis of BHDS However, the mechanism of lung cyst formation and pathogenesis of pneumothorax have not yet been clarified. Fibroblasts were isolated from lung tissues obtained from patients with BHDS (n = 12) and lung cancer (n = 10) as controls...
November 2016: Physiological Reports
https://www.readbyqxmd.com/read/27899189/genetic-predisposition-to-kidney-cancer
#18
REVIEW
Laura S Schmidt, W Marston Linehan
Kidney cancer is not a single disease but is made up of a number of different types of cancer classified by histology that are disparate in presentation, clinical course, and genetic basis. Studies of families with inherited renal cell carcinoma (RCC) have provided the basis for our understanding of the causative genes and altered metabolic pathways in renal cancer with different histologies. Von Hippel-Lindau disease was the first renal cancer disorder with a defined genetic basis. Over the next two decades, the genes responsible for a number of other inherited renal cancer syndromes including hereditary papillary renal carcinoma, Birt-Hogg-Dube´syndrome, hereditary leiomyomatosis and renal cell carcinoma, and succinate dehydrogenase-associated renal cancer were identified...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27871249/benign-clear-cell-sugar-tumor-of-the-lung-in-a-patient-with-birt-hogg-dub%C3%A3-syndrome-a-case-report
#19
Yoko Gunji-Niitsu, Toshio Kumasaka, Shigehiro Kitamura, Yoshito Hoshika, Takuo Hayashi, Hitoshi Tokuda, Riichiro Morita, Etsuko Kobayashi, Keiko Mitani, Mika Kikkawa, Kazuhisa Takahashi, Kuniaki Seyama
BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal genodermatosis and caused by germline mutation of the folliculin (FLCN) gene, a tumor suppressor gene of which protein product is involved in mechanistic target of rapamycin (mTOR) signaling pathway regulating cell growth and metabolism. Clinical manifestations in BHD syndrome is characterized by fibrofolliculomas of the skin, pulmonary cysts with or without spontaneous pneumothorax, and renal neoplasms. There has been no pulmonary neoplasm reported in BHD syndrome, although the condition is due to deleterious sequence variants in a tumor suppressor gene...
November 21, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27867584/birt-hogg-dube-syndrome-accompanied-by-pulmonary-arteriovenous-malformation
#20
Noriyuki Matsutani, Hitoshi Dejima, Yusuke Takahashi, Hirofumi Uehara, Hisae Iinuma, Fumihiko Tanaka, Masafumi Kawamura
A 25-year-old male with Birt-Hogg-Dube (BHD) syndrome who developed hemothorax caused by ruptured of pulmonary arteriovenous malformation was reported. The patient was admitted to the hospital due to chest pain. A chest X-ray showed pleural fluid in his left lung, and a chest CT showed the presence of a tumor with enhanced contrast in the lower left lobe of approximately 5 cm in a diameter. Pleural fluid was collected by tap and indicated the presence of blood; therefore, hemothorax was suspected. Thoracoscopic surgery was performed to remove the mass for homostasis...
October 2016: Journal of Thoracic Disease
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