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Research for mechanism of hematological malignancies in rare syndrome in children

Research Project

Project/Area Number 16K21376
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Hematology
Research InstitutionSt. Luke's International University

Principal Investigator

HIRABAYASHI Shinsuke  聖路加国際大学, 聖路加国際病院, 常勤嘱託 (50769635)

Research Collaborator MANABE Atsushi  
Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2017: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords希少症候群 / 造血器腫瘍 / Cancer predisposition / Rare syndrome / Maffucci syndrome / ALL / Pearson syndrome / MDS / ゲノム / 癌
Outline of Final Research Achievements

Pathogenesis of hematological malignancies in rare syndromes is not clarified yet. In this study, we performed comprehensive genetic analysis of hematological malignancies associated with rare syndromes such as Maffucci syndrome and Pearson syndrome. In addition to the genetic abnormalities responsible for the syndrome, hematologic malignancy-specific genetic abnormalities have been elucidated. These syndromes were predisposed to cancer. The phenotype of the leukemia was different based on the acquired genetic abnormality.

Academic Significance and Societal Importance of the Research Achievements

一般集団、希少症候群それぞれの造血器腫瘍の発赤機序を解明することは、それぞれの知見を用いて、相互に新たな解析、治療選択への応用が可能となる。本研究の成果により、Maffcci症候群やPearson症候群において、先天的な原因遺伝子異常を背景に、既知の造血器腫瘍特異的な遺伝子異常が加わることが確認された。今後、がん素因に配慮しつつ、それぞれの腫瘍に合わせた治療選択が可能となる。

Report

(4 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Research-status Report
  • 2016 Research-status Report
  • Research Products

    (11 results)

All 2019 2018 2017 2016

All Journal Article (5 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 4 results,  Open Access: 1 results) Presentation (5 results) Book (1 results)

  • [Journal Article] Dasatinib and low-intensity chemotherapy for Philadelphia chromosome-positive acute lymphoblastic leukemia in a child with Down syndrome2019

    • Author(s)
      Hirabayashi Shinsuke、Hasegawa Daisuke、Yamamoto Kaoru、Nishimura Akira、Hosoya Yosuke、Shuo Takuya、Kiyokawa Nobutaka、Miura Masatomo、Takahashi Naoto、Manabe Atsushi
    • Journal Title

      Pediatric Blood & Cancer

      Volume: 66 Issue: 5

    • DOI

      10.1002/pbc.27612

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] <i>TP53</i> mutations and hematological malignancies2018

    • Author(s)
      平林 真介、鈴木 美慧、真部 淳
    • Journal Title

      Rinsho Ketsueki

      Volume: 59 Issue: 11 Pages: 2468-2474

    • DOI

      10.11406/rinketsu.59.2468

    • NAID

      130007528449

    • ISSN
      0485-1439, 1882-0824
    • Related Report
      2018 Annual Research Report
  • [Journal Article] Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia2017

    • Author(s)
      Hirabayashi Shinsuke、Seki Masafumi、Hasegawa Daisuke、Kato Motohiro、Hyakuna Nobuyuki、Shuo Takuya、Kimura Shunsuke、Yoshida Kenichi、Kataoka Keisuke、Fujii Yoichi、Shiraishi Yuichi、Chiba Kenichi、Tanaka Hiroko、Kiyokawa Nobutaka、Miyano Satoru、Ogawa Seishi、Takita Junko、Manabe Atsushi
    • Journal Title

      Pediatric Blood & Cancer

      Volume: 64 Issue: 12

    • DOI

      10.1002/pbc.26647

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Heterogeneity of GATA2-related myeloid neoplasms2017

    • Author(s)
      Hirabayashi Shinsuke、Wlodarski Marcin W.、Kozyra Emilia、Niemeyer Charlotte M.
    • Journal Title

      International Journal of Hematology

      Volume: 106 Issue: 2 Pages: 175-182

    • DOI

      10.1007/s12185-017-2285-2

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Familial hematological malignancies2017

    • Author(s)
      平林 真介、真部 淳
    • Journal Title

      Rinsho Ketsueki

      Volume: 58 Issue: 10 Pages: 1878-1883

    • DOI

      10.11406/rinketsu.58.1878

    • NAID

      130006132670

    • ISSN
      0485-1439, 1882-0824
    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Presentation] MDS-predisposing syndromes; オーバービューと最近の話題2018

    • Author(s)
      平林 真介
    • Organizer
      小児MDS治療研究会
    • Related Report
      2018 Annual Research Report
  • [Presentation] IDH1 and KRAS mutations are involved in acute lymphoblastic leukemia in Maffucci syndrome.2017

    • Author(s)
      Shinsuke Hirabayashi
    • Organizer
      49th Congress of the International Society of Paediatric Oncology, Washington, USA
    • Related Report
      2017 Research-status Report
  • [Presentation] モノソミー7を伴いクローン進化を来たしたPearson症候群2017

    • Author(s)
      平林 真介
    • Organizer
      第79回日本血液学会学術集会
    • Related Report
      2017 Research-status Report
  • [Presentation] ダサチニブ併用による低減集中化学療法を用いたダウン症候群に伴ったPh+急性リンパ性白血病2017

    • Author(s)
      平林 真介
    • Organizer
      第79回日本血液学会学術集会
    • Related Report
      2017 Research-status Report
  • [Presentation] IDH1 and KRAS mutations are involved in acute lymphoblastic leukemia in Maffucci syndrome2016

    • Author(s)
      平林真介
    • Organizer
      第78回日本血液学会学術集会
    • Place of Presentation
      横浜市 パシフィコ横浜
    • Year and Date
      2016-10-14
    • Related Report
      2016 Research-status Report
  • [Book] 血液フロンティア 2016年11月号2016

    • Author(s)
      平林真介
    • Publisher
      医薬ジャーナル社
    • Related Report
      2016 Research-status Report

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Published: 2016-04-21   Modified: 2020-03-30  

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