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Role of BHD gene in the development of pulmonary cysts and cancer : A molecular-pathological analysis

Research Project

Project/Area Number 21590365
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Human pathology
Research InstitutionChiba University

Principal Investigator

NAKATANI Yukio  千葉大学, 大学院・医学研究院, 教授 (20137037)

Co-Investigator(Kenkyū-buntansha) FURUYA Mitsuko  横浜市立大学, 大学院・医学研究科, 准教授 (10361445)
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)
SAKAIRI Yuichi  千葉大学, 医学部附属病院, 医員 (30551949)
Research Collaborator KOGA Shunsuke  千葉大学, 医学部・附属病院, 後期研修医
Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2011: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2010: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2009: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
KeywordsBirt-Hogg-Dube症候群 / フォリキュリン / 肺嚢胞 / 気胸 / mTOR経路 / BHD症候群 / AMPK経路
Research Abstract

Thirteen patients from 10 families underwent genetic analysis of the folliculin gene and were diagnosed as suffering from Birt-Hogg-Dube (BHD) syndrome ; of these, pulmonary cysts resected surgically in 9 patients were studied histopathologically, immunohistochemically and molecular-pathologically. The results suggested the BHD syndrome-associated lung cyst may be a hamartoma-like aberrant cystic alveolar formation possibly caused by mild activation of the mTOR pathway under haploinsufficiency of folliculin.

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (20 results)

All 2012 2011 2010 2009 Other

All Journal Article (11 results) (of which Peer Reviewed: 10 results) Presentation (7 results) Remarks (2 results)

  • [Journal Article] Pulmonary cysts of Birt-Hogg-Dube syndrome : a clinicopathologic and immunohistochemical study of 9 families2012

    • Author(s)
      Furuya M, Tanaka R, Koga S, Yatabe Y, Gotoda H, Takagi S, Hsu YH, Fujii T, Okada A, Kuroda N, Moritani S, Mizuno H, Nagashima Y, Nagahama K, Hiroshima K, Yoshino I, Nomura F, Aoki I, Nakatani Y
    • Journal Title

      Am J Surg Pathol

      Volume: 36(4) Pages: 589-600

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] FLCN gene-mutated renal cell neoplasms : Mother and daughter cases with a novel germline mutation2012

    • Author(s)
      Nagashima Y, Furuya M, Gotohda H, Takagi S, Hes O, Michal M, Grossmann P, Tanaka R, Nakatani Y, Kuroda N
    • Journal Title

      Int J Urol

      Volume: 19(5) Issue: 5 Pages: 468-470

    • DOI

      10.1111/j.1442-2042.2011.02945.x

    • NAID

      10030755007

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Pulmonary cysts of Birt-Hogg-Dube syndrome : A clinicopathological and immunohistochemical study of 9 families2012

    • Author(s)
      Furuya Mitsuko
    • Journal Title

      American Journal of Surgical Pathology

      Volume: 36 Issue: 4 Pages: 589-600

    • DOI

      10.1097/pas.0b013e3182475240

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Birt-Hogg-Dube症候群の気胸肺2手術例および発生機序の仮説に関する報告2011

    • Author(s)
      坂入祐一
    • Journal Title

      日本気胸・嚢胞性肺疾患学会雑誌

      Volume: 11 Pages: 25-28

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Birt-Hogg-Dube syndrome症候群2010

    • Author(s)
      古賀俊輔, 古屋充子, 中谷行雄
    • Journal Title

      日本臨床

      Volume: 68(2) Pages: 361-9

    • Related Report
      2011 Final Research Report
  • [Journal Article] 胎児型腺癌2010

    • Author(s)
      中谷行雄
    • Journal Title

      病理と臨床

      Volume: 28 Pages: 252-258

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 肺肉腫様癌の分類と組織診断2010

    • Author(s)
      中谷行雄
    • Journal Title

      病理と臨床

      Volume: 28 Pages: 162-169

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Lymphohistiocytoid mesothelioma of the pleura2010

    • Author(s)
      Kawai Toshiaki
    • Journal Title

      Pathology International

      Volume: 60 Pages: 566-574

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Birt-Hogg-Dube症候群2010

    • Author(s)
      古賀俊輔
    • Journal Title

      日本臨床 68

      Pages: 361-369

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Lung cysts in Birt-Hogg-Dube syndrome : Histopathological…2009

    • Author(s)
      Koga Shunsuke
    • Journal Title

      Pathology International 59

      Pages: 720-728

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Malignant pleural mesothelioma : Clinicopathology of 16 extrapleural…2009

    • Author(s)
      Hiroshima Kenzo
    • Journal Title

      Pathology International 59

      Pages: 537-545

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] Birt-Hogg-Dube症候群と確定した10家系における肺嚢胞の病理学的検討2012

    • Author(s)
      古屋充子
    • Organizer
      第101回日本病理学会総会
    • Place of Presentation
      京王プラザホテル(東京)
    • Year and Date
      2012-04-28
    • Related Report
      2011 Final Research Report
  • [Presentation] A clinicopathological study of pulmonary cysts in 11 BHD families2012

    • Author(s)
      Koga S
    • Organizer
      The fourth BHD symposium. March 29^<th>
    • Place of Presentation
      Cincinnati, Ohio, USA
    • Related Report
      2011 Final Research Report
  • [Presentation] Accelerated mTOR signaling in the lung of Birt-Hogg-Dube syndrome2012

    • Author(s)
      Nishii T
    • Organizer
      The fourth BHD symposium. March 29^<th>
    • Place of Presentation
      Cincinnati, Ohio, USA
    • Related Report
      2011 Final Research Report
  • [Presentation] Pneumothorax-related lung diseases. In symposium : Newly evolving concepts in non-neoplastic pulmonary diseases2011

    • Author(s)
      Nakatani Y
    • Organizer
      7^<th> Asia Pacific IAP Congress
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2011-05-22
    • Related Report
      2011 Final Research Report
  • [Presentation] Birt-Hogg-Dube症候群と確定した4家系における多発性肺嚢胞の病理学的特徴2011

    • Author(s)
      古屋充子
    • Organizer
      第100回日本病理学会総会
    • Place of Presentation
      パシフィコ横浜(横浜)
    • Year and Date
      2011-04-29
    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Presentation] Birt-Hogg-Dube症候群と判明した多発性肺嚢胞の病理学的特徴2010

    • Author(s)
      古屋充子
    • Organizer
      第99回日本病理学会総会
    • Place of Presentation
      京王プラザホテル(東京)
    • Year and Date
      2010-04-27
    • Related Report
      2010 Annual Research Report
  • [Presentation] BHD遺伝子異常に基づく多発性肺嚢胞:嚢胞発生機構に関する分子病理…2009

    • Author(s)
      古賀俊輔
    • Organizer
      日本病理学会総会
    • Place of Presentation
      京都
    • Year and Date
      2009-05-02
    • Related Report
      2009 Annual Research Report
  • [Remarks]

    • URL

      http://www.bhd-net.jp/

    • Related Report
      2011 Final Research Report
  • [Remarks]

    • URL

      http://www.bhd-net.jp/

    • Related Report
      2011 Annual Research Report

URL: 

Published: 2009-04-01   Modified: 2017-10-13  

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