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Review

Clinical features, genetics and potential therapeutic approaches for Birt–Hogg–Dubé syndrome

Laura S SchmidtBasic Science Program, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA;Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, BLDG 10/CRC/Room 1-5940, 10 Center Drive MSC1107, Bethesda, MD 20892, [email protected]
&
W Marston LinehanUrologic Oncology Branch, Center for Cancer Research, National Cancer Institute, BLDG 10/CRC/Room 1-5940, 10 Center Drive MSC1107, Bethesda, MD 20892, [email protected]
, MD
Pages 15-29 | Published online: 29 Nov 2014

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Lorena Lechuga & David Neal Franz. (2019) Everolimus as adjunctive therapy for tuberous sclerosis complex-associated partial-onset seizures. Expert Review of Neurotherapeutics 19:10, pages 913-925.
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Sylvain Bodard, Idris Boudhabhay, Charles Dariane, Christophe Delavaud, Sylvain Guinebert, Dominique Joly, Marc-Olivier Timsit, Arnaud Mejean, Virginie Verkarre, Olivier Hélénon, Stéphane Richard & Jean-Michel Correas. (2022) Percutaneous Thermal Ablation for Renal Tumors in Patients with Birt–Hogg–Dubé Syndrome. Cancers 14:20, pages 4969.
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L.F. Kiely, C. O’Connor, C. Wakefield, J. Fitzgibbon & M. Murphy. (2022) Birt‐Hogg‐Dubé syndrome: association with bilateral metachronous seminomas . Journal of the European Academy of Dermatology and Venereology 36:9.
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Honami NISHIO, Emi SATO, Yuki TSUTSUI, Hiroshi MATSUZAKI, Hiroyuki HAYASHI & Shinichi IMAFUKU. (2022) A Case of Birt-Hogg-Dube Syndrome with Folliculin Gene Mutationフォリクリン遺伝子変異により確定診断した Birt-Hogg-Dube 症候群の 1 例. Nishi Nihon Hifuka 84:4, pages 329-332.
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David O'Reilly, Stewart Fleming, Paul Sweeney, Nick Mayer & Derek G Power. (2022) An index case of Birt Hogg Dube Syndrome. Current Problems in Cancer: Case Reports 6, pages 100150.
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Kristina Lagerstedt-Robinson, Izabella Baranowska Körberg, Stefanos Tsiaprazis, Erik Björck, Emma Tham, Anna Poluha, Maritta Hellström Pigg, Ylva Paulsson-Karlsson, Magnus Nordenskjöld, Maria Johansson-Soller & Christos Aravidis. (2022) A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population. PLOS ONE 17:2, pages e0264056.
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Alison M Treichel, Deeti J Pithadia, Chyi‐Chia R Lee, Oyetewa Oyerinde, Joel Moss & Thomas N Darling. (2021) Histopathological features of fibrous cephalic plaques in tuberous sclerosis complex. Histopathology 79:4, pages 619-628.
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I.E. Belousova, R.G. Shpilyuk, K.O. Chepushtanova, Yu.G. Gorbunov & D.V. Kazakov. (2021) Are multiple trichodiscomas/fibrofolliculomas the Birt-Hogg-Dubé syndrome?. Arkhiv patologii 83:3, pages 45.
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Yunlong Zhang, Ying Liu, Yu Dai, Yazhe Ren, Guangsen Bao, Bo Ai & Yu Jiang. (2020) Ciliary localization of folliculin mediated via a kinesin‐2‐binding motif is required for its functions in mTOR regulation and tumor suppression. FEBS Letters 595:1, pages 123-132.
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Robert Dazé, Lisa Fronek, Summer Moon, Maheera Farsi & Richard Miller. (2020) Masquerading case of a lumpy bumpy face. JAAD Case Reports 6:12, pages 1261-1263.
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Cécile Daccord, Jean-Marc Good, Marie-Anne Morren, Olivier Bonny, Daniel Hohl & Romain Lazor. (2020) Birt–Hogg–Dubé syndrome. European Respiratory Review 29:157, pages 200042.
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Xuyang Zhao, Yadong Ma, Jie Cui, Haiyang Zhao, Lei Liu, Yueyuan Wang, Pengxiang Min, Lin Zhang, Yongchang Chen, Jun Du, Yujie Zhang & Luo Gu. (2020) FLCN Regulates HIF2α Nuclear Import and Proliferation of Clear Cell Renal Cell Carcinoma. Frontiers in Molecular Biosciences 7.
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Dmitry S. Mikhaylenko, Alexander S. Tanas, Dmitry V. Zaletaev & Marina V. Nemtsova. (2020) Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis. Journal of Oncology 2020, pages 1-12.
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Ling Chu, Yongfeng Luo, Hui Chen, Qing Miao, Larry Wang, Rex Moats, Tiansheng Wang, John C Kennedy, Elizabeth P Henske & Wei Shi. (2020) Mesenchymal folliculin is required for alveolar development: implications for cystic lung disease in Birt-Hogg-Dubé syndrome. Thorax 75:6, pages 486-493.
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Jacob J. Adashek, Alex Leonard, Jason Roszik, Arjun K. Menta, Giannicola Genovese, Vivek Subbiah & Pavlos Msaouel. (2020) Cancer Genetics and Therapeutic Opportunities in Urologic Practice. Cancers 12:3, pages 710.
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Alexander Averyanov, Evgeniya Kogan, Victor Lesnyak, Olesya Danilevskaya & Igor E. Stepanyan. 2020. Difficult to Diagnose Rare Diffuse Lung Disease. Difficult to Diagnose Rare Diffuse Lung Disease 321 359 .
Seyda Erdogan, Ayhan Ozcan & Luan D. Truong. 2020. Kidney Cancer. Kidney Cancer 375 398 .
Ayhan Ozcan, Seyda Erdogan & Luan D. Truong. 2020. Kidney Cancer. Kidney Cancer 207 238 .
Julita A. Ramírez, Terri Iwata, Heon Park, Mark Tsang, Janella Kang, Katy Cui, Winnie Kwong, Richard G. James, Masaya Baba, Laura S. Schmidt & Brian M. Iritani. (2019) Folliculin Interacting Protein 1 Maintains Metabolic Homeostasis during B Cell Development by Modulating AMPK, mTORC1, and TFE3. The Journal of Immunology 203:11, pages 2899-2908.
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Y. Matsui, T. Hiraki, H. Gobara, T. Iguchi, K. Tomita, M. Uka, M. Araki, Y. Nasu, M. Furuya & S. Kanazawa. (2019) Percutaneous thermal ablation for renal cell carcinoma in patients with Birt–Hogg–Dubé syndrome. Diagnostic and Interventional Imaging 100:11, pages 671-677.
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Deeti J. Pithadia, Alison M. Treichel, Chyi-Chia Richard Lee, Edward W. Cowen, W. Marston Linehan, Joel Moss & Thomas N. Darling. (2019) Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex. JAAD Case Reports 5:4, pages 368-371.
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Laura S Schmidt. 2005. Encyclopedia of Life Sciences. Encyclopedia of Life Sciences 1 9 .
Marianne Geilswijk, Elisabeth Bendstrup, Mia Gebauer Madsen, Mette Sommerlund & Anne-Bine Skytte. (2018) Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature. Molecular Genetics & Genomic Medicine 6:3, pages 332-338.
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Yun Tong, Jeremy A. Schneider, Alvin B. Coda, Tissa R. Hata & Philip R. Cohen. (2017) Birt–Hogg–Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms. American Journal of Clinical Dermatology 19:1, pages 87-101.
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Roberto Castellucci, Michele Marchioni, Sergio Valenti, Giuseppe Sortino, Giulio Borgonovo, Nicola Pesenti, Alberto C.A. Vismara, Maria C. Circo, Barbara Sessa, Emanuele Micheli & Antonino Lembo. (2016) Multiple Chromophobe and Clear Cell Renal Cancer in A Patient Affected by Birt-Hogg-Dubè Syndrome: A Case Report. Urologia Journal 84:2, pages 116-120.
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Katsuyuki Nagashima, Hidefumi Fukushima, Kouhei Shimizu, Aya Yamada, Masumi Hidaka, Hisashi Hasumi, Tetsuro Ikebe, Satoshi Fukumoto, Koji Okabe & Hiroyuki Inuzuka. (2016) Nutrient-induced FNIP degradation by SCFβ-TRCP regulates FLCN complex localization and promotes renal cancer progression. Oncotarget 8:6, pages 9947-9960.
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Maria Rossing, Anders Albrechtsen, Anne-Bine Skytte, Uffe B Jensen, Lilian B Ousager, Anne-Marie Gerdes, Finn C Nielsen & Thomas vO Hansen. (2016) Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. Journal of Human Genetics 62:2, pages 151-157.
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Marta Campano García, Angelo Giordano Kwakye Agyemang & Rosa Giménez García. (2017) Síndrome de Birt-Hogg-Dubé: a propósito de un caso. FMC - Formación Médica Continuada en Atención Primaria 24:2, pages 108-109.
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Vera P. Krymskaya & Francis X. McCormack. (2017) Lymphangioleiomyomatosis: A Monogenic Model of Malignancy. Annual Review of Medicine 68:1, pages 69-83.
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Akira FUKUNAGA, Satoko UEMURA, Yuji SASAMURA, Yoshihiro MURAKAMI, Hirotake ABE & Mamoru MIYASAKA. (2017) A Case of Birt-Hogg-Dubé Syndrome Diagnosed on the Occasion of Surgical Treatment for Pneumothorax. Nihon Rinsho Geka Gakkai Zasshi (Journal of Japan Surgical Association) 78:6, pages 1262-1266.
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Cécile Daccord, Laurent P. Nicod & Romain Lazor. (2017) Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function. Respiration 94:6, pages 467-485.
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L. Martins, M. Caixeiro, C. Costa, S. Feijó & C. Bárbara. (2016) A case of Birt–Hogg–Dubé syndrome. Revista Portuguesa de Pneumologia (English Edition) 22:6, pages 365-366.
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Erin S. DeMartino, Carilyn N. Wieland, Mark S. Allen & James P. Utz. (2016) What Pneumothoraces and Fibrofolliculomas Convey: Birt-Hogg-Dubé. American Journal of Respiratory and Critical Care Medicine 194:5, pages 634-635.
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John C. Kennedy, Damir Khabibullin & Elizabeth P. Henske. (2016) Mechanisms of pulmonary cyst pathogenesis in Birt?Hogg?Dube syndrome: The stretch hypothesis. Seminars in Cell & Developmental Biology 52, pages 47-52.
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