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2011 Fiscal Year Final Research Report

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

Research Project

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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
KeywordsBirt-Hogg-Dube症候群 / フォリキュリン / 肺嚢胞 / 気胸 / mTOR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.

  • Research Products

    (9 results)

All 2012 2011 2010 Other

All Journal Article (3 results) (of which Peer Reviewed: 2 results) Presentation (5 results) Remarks (1 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

    • 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) Pages: 468-470

    • DOI

      DOI:10.1111/j.1442-2042.2011.02945.x. Epub 2011 Dec 29

    • 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

  • [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
    • Year and Date
      20120000
  • [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
    • Year and Date
      20120000
  • [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
  • [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
  • [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
  • [Remarks]

    • URL

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

URL: 

Published: 2013-07-31   Modified: 2017-10-13  

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