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Analysis of genetic heterogeneity of medulloblastoma with Gorlin syndrome

Research Project

Project/Area Number 15K19638
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionJikei University School of Medicine

Principal Investigator

Yamaoka Masayoshi  東京慈恵会医科大学, 医学部, 助教 (70614874)

Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Fiscal Year 2016: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords髄芽腫 / ソニックヘッジホッグ / Gorlin症候群 / GNAS / ヘッジホッグシグナル
Outline of Final Research Achievements

This study aimed to clarify the molecular basis of medulloblastoma development in Gorlin syndrome (GS). We examined genetic features associated with Sonic Hedgehog (SHH) signal mainly in two medulloblastoma with GS with immunohistochemistry and comprehensive gene analysis of tumors. As a result, we investigated two hits of PTCH1 in tumor cells, MYCN amplification associated with chromothripsis and loss of function mutation of GNAS, and they contributes greatly to tumorigenesis or malignant transformation in GS. Moreover, somatic mosaicism of maternal heterodisomy of GNAS may cause clinical phenotype of POH and GS.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (14 results)

All 2018 2017 2016 2015

All Journal Article (5 results) (of which Peer Reviewed: 5 results,  Open Access: 1 results) Presentation (8 results) Book (1 results)

  • [Journal Article] Acute lymphoblastic leukemia with hypereosinophilia in a 3-year-old boy2018

    • Author(s)
      Yamaoka Masayoshi、Akiyama Masaharu、Ohyama Wataru、Tachimoto Hiroshi、Matsumoto Kenji
    • Journal Title

      Pediatrics International

      Volume: 60 Issue: 1 Pages: 88-90

    • DOI

      10.1111/ped.13454

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Cytokine and pathological analysis of hepatitic variant graft-versus-host disease after allogenic peripheral blood stem cell transplantation in a child2016

    • Author(s)
      Yamaoka M, Akiyama M, Ohyama W, Yokoi K, Ida H, Kawashima H, Ito M
    • Journal Title

      Journal of Hematopoietic Cell Transplantaion

      Volume: 5 Pages: 22-26

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Journal Article] 母親のクローン病に関連した乳児ビタミンB12欠乏性巨赤芽球性貧血2016

    • Author(s)
      大山 亘, 山岡 正慶, 横井 健太郎, 岩橋 めぐみ, 稲毛 由佳, 有廣 誠二, 小金井 一隆, 杉田 昭, 井田 博幸, 秋山 政晴
    • Journal Title

      臨床血液

      Volume: 57 Pages: 15-19

    • NAID

      130005125843

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Journal Article] Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome2015

    • Author(s)
      Akiyama M, Yamaoka M, Mikami-Terao Y, Ohyama W, Yokoi K, Arakawa Y, Takita J, Suzuki H, Yamada H
    • Journal Title

      International Journal of Hematology

      Volume: 102 Issue: 6 Pages: 723-8

    • DOI

      10.1007/s12185-015-1892-z

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Paraneoplastic Syndrome of Angiomatoid Fibrous Histiocytoma May Be Caused by EWSR1-CREB1 Fusion-induced Excessive Interleukin-6 Production2015

    • Author(s)
      Akiyama M, Yamaoka M, Mikami-Terao Y, Yokoi K, Inoue T, Hiramatsu T, Ashizuka S, Yoshizawa J, Katagi H, Ikegami M, Ida H, Nakazawa A, Okita H, Matsumoto K
    • Journal Title

      Journal of Pediatric Hematology Oncology

      Volume: 37 Issue: 7 Pages: 554-9

    • DOI

      10.1097/mph.0000000000000390

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Presentation] 再発中枢神経系Germinomaに対する造血幹細胞移植併用大量化学療法2018

    • Author(s)
      山岡正慶、本多隆也、横井健太郎、野中雄一郎、秋山政晴、鈴木智成、西川亮、柳澤隆昭
    • Organizer
      第40回造血細胞移植学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 眼球突出を主訴に診断に至った小児腫瘍性疾患11例2017

    • Author(s)
      山岡正慶、本多隆也、横井健太郎、野中雄一郎、秋山政晴、柳澤隆昭
    • Organizer
      第35回日本眼腫瘍学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Survival and functional outcome of childhood intramedullary spinal cord low grade gliomas initially treated chemotherapy: A successful management2017

    • Author(s)
      山岡正慶、本多隆也、横井健太郎、野中雄一郎、秋山政晴、柳澤隆昭
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 小児・若年成人発症視床神経膠腫の臨床病理学的検討2017

    • Author(s)
      山岡正慶、本多隆也、横井健太郎、秋山政晴、野中雄一郎、赤崎安晴、柳澤隆昭
    • Organizer
      第35回日本脳腫瘍学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 胎児エコーで診断された先天性脳腫瘍6例の検討2016

    • Author(s)
      山岡正慶、柳澤隆昭、大山亘、横井健太郎、秋山政晴、野中雄一郎、井田博幸
    • Organizer
      第119回日本小児科学会学術集会
    • Place of Presentation
      ロイトン札幌(札幌)
    • Year and Date
      2016-05-13
    • Related Report
      2015 Research-status Report
  • [Presentation] 再発頭蓋内胚細胞腫瘍に対する大量化学療法2015

    • Author(s)
      山岡正慶、大山亘、横井健太郎、秋山政晴、野中雄一郎、福岡講平、鈴木智成、西川亮、松谷雅生、柳澤隆昭
    • Organizer
      第33回日本脳腫瘍学会学術集会
    • Place of Presentation
      グランドプリンスホテル京都(京都)
    • Year and Date
      2015-12-06
    • Related Report
      2015 Research-status Report
  • [Presentation] エベロリムスが奏効した結節性硬化症の乳児例2015

    • Author(s)
      山岡正慶、大山亘、横井健太郎、日暮憲道、菊池健二郎、野中雄一郎、柳澤隆昭、秋山政晴
    • Organizer
      第57回日本小児血液がん学会学術集会
    • Place of Presentation
      甲府富士屋ホテル(甲府)
    • Year and Date
      2015-11-27
    • Related Report
      2015 Research-status Report
  • [Presentation] 化学療法中に広汎な髄液播種をきたした視神経腫瘍の1例2015

    • Author(s)
      山岡正慶、柳澤隆昭、福岡講平、鈴木智成、秋山政晴、増本愛、野中雄一郎、西川亮、敷島敬悟
    • Organizer
      第33回日本眼腫瘍学会
    • Place of Presentation
      くにびきメッセ国際会議場(松江)
    • Year and Date
      2015-10-03
    • Related Report
      2015 Research-status Report
  • [Book] イラストレイテッド 総合臨床基礎医学2018

    • Author(s)
      監修 栗原敏、監訳 大橋十也、岡野ジェイムス洋尚、本郷賢一、横尾隆、翻訳 山岡正慶 他
    • Total Pages
      518
    • Publisher
      丸善出版
    • ISBN
      9784621302446
    • Related Report
      2017 Annual Research Report

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Published: 2015-04-16   Modified: 2019-10-18  

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