Birt-Hogg-Dube syndrome: Molecular analysis and diagnosis of related lesions
Project/Area Number |
24590408
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Human pathology
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Research Institution | Chiba University |
Principal Investigator |
NAKATANI Yukio 千葉大学, 医学(系)研究科(研究院), 教授 (20137037)
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Co-Investigator(Kenkyū-buntansha) |
FURUYA Mitsuko 横浜市立大学, 医学研究科, 准教授 (10361445)
NAGASHIMA Yoji 東京女子医科大学, 附属病院, 教授 (10217995)
OHTA Satoshi 千葉大学, 医学部附属病院, 准教授 (90324342)
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Co-Investigator(Renkei-kenkyūsha) |
YAMAGUCHI Atsushi 千葉大学, 大学院医学研究院, 准教授 (00314336)
HIROSHIMA Kenzo 東京女子医科大学, 八千代医療センター, 教授 (80218833)
|
Project Period (FY) |
2012-04-01 – 2015-03-31
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Project Status |
Completed (Fiscal Year 2014)
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Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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Keywords | フォリキュリン / バート・ホッグ・デュベ症候群 / 腎腫瘍 / 肺嚢胞 / 病理組織学 / 腎癌 / 気胸 / 遺伝子変異 / バート・ホッグ・デューベ症候群 / 病理学 / 遺伝子 / Birt-HoggーDube症候群 / 国際情報交換 / 台湾 |
Outline of Final Research Achievements |
Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant inherited disorder associated with a germline mutation of the folliculin gene (FLCN), characterized by fibrofolliculomas, renal tumors, pulmonary cysts and pneumothorax. The number of BHDS individuals is not studied in Japan. We have diagnosed 100 BHDS families by genetic testing. Pulmonary cysts in BHDS are bilateral and multifocal. Individuals with BHDS have a high risk of developing spontaneous, recurrent pneumothorax. Although BHD pulmonary cysts are frequently misdiagnosed as nonspecific cystic diseases, they are distinctly different in histopathology from other bullous changes. Renal tumors in BHDS showed overexpression of glycoprotein non-metastatic B (GPNMB) and underexpression of FLCN, whereas sporadic tumors showed inverted patterns. The distinctive expression patterns of GPNMB and FLCN might identify patients with renal tumors who need further work-up for BHDS.
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Report
(4 results)
Research Products
(27 results)
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[Journal Article] Immunohistochemical Characterization of Renal Tumors in Patients with Birt-Hogg-Dube Syndrome2015
Author(s)
Iribe Y, Kuroda N, Nagashima Y, Yao M, Tanaka R, Gotoda H, Kawakami F, Imamura Y, Nakamura Y, Ando M, Araki A, Matsushima J, Nakatani Y, Furuya M
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Journal Title
. Pathol Int
Volume: 65
Issue: 3
Pages: 126-132
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Review of Renal Tumors associated with Birt-Hogg-Dube syndrome with focus on clinical and pathobiological aspects2014
Author(s)
Kuroda N, Furuya M, Nagashima Y, Gotoda H, Kawakami F, Moritani S, Ota S, Hora M, Michal M, Hes O, Nakatani Y
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Journal Title
Pol J Pathol
Volume: 66
Pages: 93-99
Related Report
Peer Reviewed
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[Journal Article] Intratumoral peripheral small papillary tuft (ITPSPT): A diagnostic clue of renal tumors associated with Birt-Hogg-Dubé syndrome.2014
Author(s)
Kuroda N, Furuya M, Nagashima Y, Gotoda H, Moritani S, Kawakami F, Imamura Y, Bando Y, Takahashi M, Kanayama H, Ota S, Michal M, Hes O, Nakatani Y
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Journal Title
Ann Diagn Pathol
Volume: 14
Issue: 3
Pages: 1092-9134
DOI
Related Report
Peer Reviewed
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[Journal Article] Multifocal and microscopic chromophobe renal cell carcinomatous lesions associated with 'capsulomas' without FCLN gene abnormality.2013
Author(s)
Sugimoto K, Takasawa A, Ichimiya S, Murata M, Kimura H, Aoyama T, Gille JJ, Kuroda N, Shimizu H, Hasegawa T, Sawada N, Furuya M, Nagashima Y.
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Journal Title
Pathol Int.
Volume: 60
Issue: 10
Pages: 510-515
DOI
Related Report
Peer Reviewed
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[Presentation] Birt-Hogg-Dube症候群(BHDS)で腎ハイブリッド腫瘍および甲状腺癌を発生した1例の分子病理学的検討2014
Author(s)
松嶋 惇, 古屋 充子, 長嶋 健, 巣山 貴仁, 長嶋 洋治, 太田 聡, 青木 一郎, 市川 智彦, 宮崎 勝, 黒田 直人, 田中 玲子, 中谷 行雄
Organizer
第103回日本病理学会総会
Place of Presentation
広島国際会議場(広島県広島市)
Year and Date
2014-04-24 – 2014-04-26
Related Report
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[Presentation] Birt-Hogg-Dube症候群随伴腎腫瘍の病理学的特徴2014
Author(s)
黒田 直人(高知赤十字病院 病理診断科部), 古屋 充子, 長嶋 洋治, 後藤田 裕子, 森谷 鈴子, 川上 史, 今村 好章, 坂東 良美, 太田 聡, 中谷 行雄
Organizer
第103回日本病理学会総会
Place of Presentation
広島国際会議場(広島県広島市)
Year and Date
2014-04-24 – 2014-04-26
Related Report
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