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https://www.readbyqxmd.com/read/28069055/novel-germline-mutations-in-flcn-gene-identified-in-two-chinese-patients-with-birt-hogg-dub%C3%A3-syndrome
#1
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
#2
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...
December 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/28031834/birt-hogg-dub%C3%A3-syndrome-in-an-indonesian-patient-with-folliculin-gene-mutation
#3
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
#4
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
#5
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...
December 22, 2016: 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
#6
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/27913603/the-tumor-suppressor-flcn-mediates-an-alternate-mtor-pathway-to-regulate-browning-of-adipose-tissue
#7
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/27905298/haploinsufficiency-of-the-folliculin-gene-leads-to-impaired-functions-of-lung-fibroblasts-in-patients-with-birt-hogg-dub%C3%A3-syndrome
#8
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/27871249/benign-clear-cell-sugar-tumor-of-the-lung-in-a-patient-with-birt-hogg-dub%C3%A3-syndrome-a-case-report
#9
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/27780965/a-case-of-birt-hogg-dub%C3%A3-bhd-syndrome-harboring-a-novel-folliculin-flcn-gene-mutation
#10
Takuro Yukawa, Takuya Fukazawa, Masakazu Yoshida, Ichiro Morita, Katsuya Kato, Yasumasa Monobe, Mitsuko Furuya, Yoshio Naomoto
BACKGROUND Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder clinically characterized by pulmonary cysts, spontaneous pneumothorax, renal cell cancer, and skin fibrofolliculomas. The disorder is caused by germline mutations in the FLCN gene. CASE REPORT A 56-year-old female was admitted to our hospital with a diagnosis of bilateral spontaneous pneumothorax. A computed tomography (CT) scan of the chest revealed bilateral multiple bullae predominantly located in the subpleural and mediastinal areas in the bilateral upper and lower lobes...
October 26, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27734835/genetic-screening-of-the-flcn-gene-identify-six-novel-variants-and-a-danish-founder-mutation
#11
Maria Rossing, Anders Albrechtsen, Anne-Bine Skytte, Uffe B Jensen, Lilian B Ousager, Anne-Marie Gerdes, Finn C Nielsen, Thomas vO Hansen
Pathogenic germline mutations in the folliculin (FLCN) tumor suppressor gene predispose to Birt-Hogg-Dubé (BHD) syndrome, a rare disease characterized by the development of cutaneous hamartomas (fibrofolliculomas), multiple lung cysts, spontaneous pneumothoraces and renal cell cancer. In this study, we report the identification of 13 variants and three polymorphisms in the FLCN gene in 143 Danish patients or families with suspected BHD syndrome. Functional mini-gene splicing analysis revealed that two intronic variants (c...
October 13, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27722904/genetically-diagnosed-birt-hogg-dub%C3%A3-syndrome-and-familial-cerebral-cavernous-malformations-in-the-same-individual-a-case-report
#12
James Whitworth, Brian Stausbøl-Grøn, Anne-Bine Skytte
When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and haemangiomas. Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation...
January 2017: Familial Cancer
https://www.readbyqxmd.com/read/27652079/risk-of-spontaneous-pneumothorax-due-to-air-travel-and-diving-in-patients-with-birt-hogg-dub%C3%A3-syndrome
#13
P C Johannesma, I van de Beek, J W T van der Wel, M A Paul, A C Houweling, M A Jonker, J H T M van Waesberghe, R Reinhard, Th M Starink, R J A van Moorselaar, F H Menko, P E Postmus
BACKGROUND AND OBJECTIVES: Birt-Hogg-Dubé syndrome is an autosomal dominant disorder characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cell cancer due to germline folliculin (FLCN) mutations (Menko et al. in Lancet Oncol 10(12):1199-1206, 2009). The aim of this study was to evaluate the incidence of spontaneous pneumothorax in patients with BHD during or shortly after air travel and diving. METHODS: A questionnaire was sent to a cohort of 190 BHD patients and the medical files of these patients were evaluated...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27650627/a-novel-flcn-c-1489_1490deltg-mutation-that-escapes-the-nonsense-mediated-decay-system
#14
Yong-Jin Park, Seog-Ki Lee, Seong-Ho Kang, Sook-Jin Jang, Dae-Soo Moon, Geon Park
A novel FLCN c.1489_1490delTG (p.Val497Glyfs*22) mutation at the genomic DNA and mRNA levels was identified in a 43-year-old woman with complaining of recurrent primary spontaneous pneumothorax. The aberrant FLCN mRNA escaped the nonsense-mediated decay system (NMD) because of a premature termination code located in an NMD-incompetent region. To the best of our knowledge, this is the first case report of an FLCN mutation escaping the NMD.
September 2016: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/27643397/renal-angiomyolipoma-in-birt-hogg-dube-syndrome-a-case-study-supporting-overlap-with-tuberous-sclerosis-complex
#15
Eryn Dow, Ingrid Winship
Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant disease characterised by benign cutaneous lesions, pulmonary cysts, and an increased risk of renal tumors. This rare condition is due to a mutation in the folliculin (FLCN) gene on chromosome 17q11.2, which has a role in the mechanistic/mammalian target of rapamycin (mTOR) signaling pathway of tumorigenesis. This case illustrates a patient with BHD and a renal angiomyolipoma, a neoplastic lesion not usually associated with BHD but common in Tuberous Sclerosis Complex (TSC)...
September 19, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27642565/recurrent-spontaneous-pneumothoraces-and-bullous-emphysema-a-novel-mutation-causing-birt-hogg-dube-syndrome
#16
Andrew Burkett, Niamh Coffey, Eva Tomiak, Nha Voduc
Birt-Hogg-Dube syndrome (BHDS) is a rare form of classically cystic lung disease that may present with spontaneous pneumothorax. The associated skin manifestations (fibrofolliculomas) are not always present. This article describes a case of spontaneous pneumothorax secondary to bullous emphysema in an otherwise healthy gentleman caused by a novel mutation in the folliculin (FLCN) gene.
2016: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/27633572/bilateral-renal-tumors-in-an-adult-man-with-smith-magenis-syndrome-the-role-of-the-flcn-gene
#17
Leila Dardour, Pieter Verleyen, Karl Lesage, Maureen Holvoet, Koen Devriendt
Smith-Magenis syndrome (SMS) is a contiguous-gene disorder most commonly caused by a deletion of chromosome 17p11.2. We report a 57 year-old man with SMS who presents bilateral renal tumors. This is most likely related to haploinsufficiency of FLCN gene, located in the deleted region, and a known tumor suppressor gene. Haploinsufficiency of FLCN causes Birt-Hogg-Dubé syndrome (BHDS), characterized by pulmonary cysts, renal and skin tumors. The present observation suggests that the follow-up of patients with SMS should also focus on possible manifestations of BHDS...
October 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27596542/multiple-angiomatous-nodules-a-novel-skin-tumor-in-birt-hogg-dub%C3%A3-syndrome
#18
C Nikolaidou, E Moscarella, C Longo, S Rosato, A Cavazza, S Piana
Birt-Hogg-Dubé syndrome (BHDS), first described in 1977, is a rare autosomal dominant disorder, linked to germline mutations in the FLCN (folliculin) gene. Patients may present with different skin tumors, pulmonary cysts with recurrent spontaneous pneumothorax, and renal cancers, but it has also been estimated that about 25% of carriers older than 20 years do not show skin involvement. So far, besides the triad of skin lesions of the original description (fibrofolliculomas, trichodischomas and acrochordons), a wide range of neoplastic and non-neoplastic skin conditions have been reported, i...
December 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27559131/c9orf72-binds-smcr8-localizes-to-lysosomes-and-regulates-mtorc1-signaling
#19
Joseph Amick, Agnes Roczniak-Ferguson, Shawn M Ferguson
Hexanucleotide expansion in an intron of the C9orf72 gene causes amyotrophic lateral sclerosis and frontotemporal dementia. However, beyond bioinformatics predictions that suggested structural similarity to folliculin, the Birt-Hogg-Dubé syndrome tumor suppressor, little is known about the normal functions of the C9orf72 protein. To address this problem, we used genome-editing strategies to investigate C9orf72 interactions, subcellular localization, and knockout (KO) phenotypes. We found that C9orf72 robustly interacts with SMCR8 (a protein of previously unknown function)...
October 15, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/27491856/the-effectiveness-and-cost-effectiveness-of-intraoperative-imaging-in-high-grade-glioma-resection-a-comparative-review-of-intraoperative-ala-fluorescein-ultrasound-and-mri
#20
REVIEW
M Sam Eljamel, Syed Osama Mahboob
BACKGROUND: Surgical resection of high-grade gliomas (HGG) is standard therapy because it imparts significant progression free (PFS) and overall survival (OS). However, HGG-tumor margins are indistinguishable from normal brain during surgery. Hence intraoperative technology such as fluorescence (ALA, fluorescein) and intraoperative ultrasound (IoUS) and MRI (IoMRI) has been deployed. This study compares the effectiveness and cost-effectiveness of these technologies. METHODS: Critical literature review and meta-analyses, using MEDLINE/PubMed service...
December 2016: Photodiagnosis and Photodynamic Therapy
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