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Birt-Hogg-Dube syndrome: Molecular analysis and diagnosis of related lesions

Research Project

Project/Area Number 24590408
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Human pathology
Research InstitutionChiba University

Principal Investigator

NAKATANI Yukio  千葉大学, 医学(系)研究科(研究院), 教授 (20137037)

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)
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
Project Status Completed (Fiscal Year 2014)
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)
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.

Report

(4 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • 2012 Research-status Report
  • Research Products

    (27 results)

All 2015 2014 2013 2012 Other

All Journal Article (10 results) (of which Peer Reviewed: 10 results,  Open Access: 2 results,  Acknowledgement Compliant: 2 results) Presentation (14 results) (of which Invited: 1 results) Remarks (3 results)

  • [Journal Article] Distinctive Expression Patterns of GPNMB and Folliculin in Renal Tumors in Patients with Birt-Hogg-Dube Syndrome.2015

    • Author(s)
      Furuya M, Hong SB, Tanaka R, Kuroda N, Nagashima Y, Nagahama K, Suyama T, Yao M, Nakatani Y
    • Journal Title

      Cancer Sci

      Volume: 106 Issue: 3 Pages: 315-323

    • DOI

      10.1111/cas.12601

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [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
    • Journal Title

      . Pathol Int

      Volume: 65 Issue: 3 Pages: 126-132

    • DOI

      10.1111/pin.12254

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Case of bilateral and multifocal renal cell carcinoma associated with Birt-Hogg-Dube syndrome2015

    • Author(s)
      Yamada Y, Sakamoto S, Furuya M, Nihei N, Nakatani Y, Ichikawa T
    • Journal Title

      Int J Urol

      Volume: 22 Issue: 2 Pages: 230-231

    • DOI

      10.1111/iju.12649

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [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
    • Journal Title

      Pol J Pathol

      Volume: 66 Pages: 93-99

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [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
    • Journal Title

      Ann Diagn Pathol

      Volume: 14 Issue: 3 Pages: 1092-9134

    • DOI

      10.1016/j.anndiagpath.2014.03.002

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Birt-Hogg-Dubé Syndrome2013

    • Author(s)
      Furuya M, Nakatani Y
    • Journal Title

      J Clin Pathol

      Volume: vol 66 Issue: 3 Pages: 178-188

    • DOI

      10.1136/jclinpath-2012-201200

    • Related Report
      2013 Research-status Report 2012 Research-status Report
    • Peer Reviewed
  • [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.
    • Journal Title

      Pathol Int.

      Volume: 60 Issue: 10 Pages: 510-515

    • DOI

      10.1111/pin.12099

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Unique Mutation, Accelerated mTOR Signaling and Angiogenesis in the Pulmonary Cysts of Birt-Hogg-Dubé Syndrome2013

    • Author(s)
      Nishii T, Tanabe M, Tanaka R, Matsuzawa T, Okudela K, Nozawa A, Nakatani Y, Furuya M
    • Journal Title

      Pathol Int

      Volume: vol 63 Issue: 1 Pages: 45-55

    • DOI

      10.1111/pin.12028

    • Related Report
      2012 Research-status 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
      2012 Research-status 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
      2012 Research-status Report
    • Peer Reviewed
  • [Presentation] 本邦のBirt-Hogg-Dube 症候群62 家系における腎癌およびその他 の悪性腫瘍発症率と病理像の検討2014

    • Author(s)
      中谷行雄、長嶋洋治、矢尾正祐、松嶋惇、入部康弘、古屋 充子
    • Organizer
      第73回日本癌学会学術総会
    • Place of Presentation
      パシフィコ横浜(神奈川県横浜市)
    • Year and Date
      2014-09-25 – 2014-09-27
    • Related Report
      2014 Annual Research Report
  • [Presentation] Birt-Hogg-Dube症候群(BHDS)患者に発生した腎癌の1例2014

    • Author(s)
      松嶋 惇, 古屋 充子, 巣山 貴仁, 長嶋 洋治, 田中 玲子, 中谷 行雄
    • Organizer
      第45回腎癌研究会
    • Place of Presentation
      品川インターシティホール(東京都品川区)
    • Year and Date
      2014-07-20
    • Related Report
      2014 Annual Research Report
  • [Presentation] Birt-Hogg-Dube(BHD)症候群を背景に発症する腎癌例の疫学・臨床・病理学的検討2014

    • Author(s)
      古屋 充子, 田中 玲子, 黒田 直人, 長嶋 洋治, 矢尾 正祐, 中谷 行雄
    • Organizer
      第45回腎癌研究会
    • Place of Presentation
      品川インターシティホール(東京都品川区)
    • Year and Date
      2014-07-20
    • Related Report
      2014 Annual Research Report
  • [Presentation] Birt-Hogg-Dube(BHD)症候群における腎腫瘍の臨床病理学的検討2014

    • Author(s)
      古屋 充子, Hong Seung-Beom, 田中 玲子, 黒田 直人, 長嶋 洋治, 矢尾 正祐, 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
      2014 Annual Research Report
  • [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
      2014 Annual Research Report
  • [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
      2014 Annual Research Report
  • [Presentation] 気胸を呈する多発性肺嚢胞の臨床病理学的検討 Birt-Hogg-Dube症候群を中心に2013

    • Author(s)
      古屋充子
    • Organizer
      第102回日本病理学会総会
    • Place of Presentation
      札幌
    • Related Report
      2013 Research-status Report
  • [Presentation] A clinicopathologic study of 72 individuals in 33 Asian BHD families2013

    • Author(s)
      Furuya M
    • Organizer
      Fifth BHD Symposium and Second HLRCC Symposium
    • Place of Presentation
      Paris(France)
    • Related Report
      2013 Research-status Report
  • [Presentation] Birt-Hogg-Dube症候群患者に発生した甲状腺濾胞癌の1例2013

    • Author(s)
      松嶋 淳
    • Organizer
      第59回日本病理学会秋期特別集会
    • Place of Presentation
      甲府
    • Related Report
      2013 Research-status Report
  • [Presentation] Novel mutation patterns and distinctive clinicopasthological features in Asian families with Birt- Hogg-Dube syndrome.2013

    • Author(s)
      Nakatani Y
    • Organizer
      第72回日本がん学会学術総会
    • Place of Presentation
      横浜
    • Related Report
      2013 Research-status Report
  • [Presentation] Peculiar histopathological findings in lung lesions: Their Usefulness for Diagnosis and Research2013

    • Author(s)
      Nakatani Y
    • Organizer
      The 8th Asia Pacific IAP Congress
    • Place of Presentation
      Busan(Korea)
    • Related Report
      2013 Research-status Report
    • Invited
  • [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回日本病理学総会
    • Place of Presentation
      東京
    • Related Report
      2012 Research-status Report
  • [Presentation] 新規遺伝子変異を示したBirt-Hogg-Dube症候群の1例 反復性気胸を伴う多発性肺嚢胞の分子病理学的検討2012

    • Author(s)
      西井鉄平
    • Organizer
      第101回日本病理学総会
    • Place of Presentation
      東京
    • Related Report
      2012 Research-status Report
  • [Presentation] Birt-Hogg-Dube症候群における肺嚢胞の病理像:腎癌をもつBHDファミリーに対する病理診断の重要性2012

    • Author(s)
      中谷行雄
    • Organizer
      第71回日本癌学会学術総会
    • Place of Presentation
      札幌
    • Related Report
      2012 Research-status Report
  • [Remarks] Birt-Hogg-Dube 症候群情報ネット (BHD ネット)

    • URL

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

    • Related Report
      2014 Annual Research Report
  • [Remarks] バート・ホッグ・デュベ症候群ネット

    • URL

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

    • Related Report
      2013 Research-status Report
  • [Remarks] Birt-Hogg-Dubé 症候群情報ネット (BHD ネット)

    • URL

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

    • Related Report
      2012 Research-status Report

URL: 

Published: 2013-05-31   Modified: 2019-07-29  

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