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Molecular mechanisms of abnormal cell proliferation in transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome

Research Project

Project/Area Number 20591241
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionHirosaki University

Principal Investigator

TERUI Kiminori  Hirosaki University, 医学部・附属病院, 講師 (00333740)

Co-Investigator(Kenkyū-buntansha) TOKI Tsutomu  弘前大学, 大学院・医学研究科, 講師 (50195731)
Project Period (FY) 2008 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2009: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2008: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords小児血液学 / 白血病 / ダウン症候群 / シグナル伝達 / 分子標的療法 / JAK3 / 一渦性骨髄増殖性疾患 / 急性巨核球性白血病 / GATA1 / 急性リンパ性白血病 / JAK2 / CRLF2 / 一過性骨髄増殖性疾患 / 先天性白血病 / 自然寛解
Research Abstract

We performed this study to clarify molecular mechanisms of abnormal cell proliferation in transient myeloproliferative disorder (TMD) and acute megakaryoblastic leukemia of Down syndrome (DS-AMKL), and found the following results.
1. We identified 3 novel JAK3 mutations in a DS-AMKL cell line and a TMD patient, and demonstrated that these mutations were all activating mutations.
2. We showed that JAK3 inhibitors would have therapeutic effects on TMD and DS-AMKL patients carrying activating JAK3 mutations.

Report

(4 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • 2008 Annual Research Report
  • Research Products

    (42 results)

All 2011 2010 2009 2008 Other

All Journal Article (19 results) (of which Peer Reviewed: 3 results) Presentation (21 results) Book (1 results) Remarks (1 results)

  • [Journal Article] Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry.2011

    • Author(s)
      Zhao M, Kanegane H, Kobayashi C, Nakazawa Y, Ishii E, Kasai M, Terui K, Gocho Y, Imai K, Kiyasu J, Nonoyama S, Miyawaki T
    • Journal Title

      Cytometry B Clin Cytom 80

      Pages: 8-13

    • Related Report
      2010 Final Research Report
  • [Journal Article] Voriconazole for both successful treatment of disseminated Trichosporon asahii infection and subsequent cord blood transplantation in an infant with acute myelogenous leukemia.2011

    • Author(s)
      Kudo K, Terui K, Sasaki S, Kamio T, Sato T, Ito E
    • Journal Title

      Bone Marrow Transplant 46

      Pages: 310-311

    • Related Report
      2010 Final Research Report
  • [Journal Article] Molecular pathogenesis in Diamond-Blackfan anemia.2010

    • Author(s)
      Ito E, Konno Y, Toki T, Terui K
    • Journal Title

      Int J Hematol 92

      Pages: 413-418

    • NAID

      10027673188

    • Related Report
      2010 Final Research Report
  • [Journal Article] Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder : mutation classes correlate with progression to myeloid leukemia.2010

    • Author(s)
      Kanezaki R, Toki T, Terui K, Xu G, Wang R, Shimada A, Hama A, Kanegane H, Kawakami K, Endo M, Hasegawa D, Kogawa K, Adachi S, Ikeda Y, Iwamoto S, Taga T, Kosaka Y, Kojima S, Hayashi Y, Ito E
    • Journal Title

      Blood 116

      Pages: 4631-4638

    • Related Report
      2010 Final Research Report
  • [Journal Article] Guillain-Barre syndrome mimicking acute methotrexate-associated encephalopathy in an adolescent patient with lymphoblastic lymphoma.2010

    • Author(s)
      Terui K, Takahashi Y, Sasaki S, Kudo K, Kamio T, Ito E
    • Journal Title

      J Pediatr Hematol Oncol 32

      Pages: 615-616

    • Related Report
      2010 Final Research Report
  • [Journal Article] PU.1-mediated upregulation of CSF1R is crucial for leukemia stem cell potential induced by MOZ-TIF2.2010

    • Author(s)
      Aikawa Y, Katsumoto T, Zhang P, Shima H, Shino M, Terui K, Ito E, Ohno H, Stanley ER, Singh H, Tenen DG, Kitabayashi I
    • Journal Title

      Nat Med 16

      Pages: 580-585

    • Related Report
      2010 Final Research Report
  • [Journal Article] Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.2010

    • Author(s)
      Konno Y, Toki T, Tandai S, Xu G, Wang R, Terui K, Ohga S, Hara T, Hama A, Kojima S, Hasegawa D, Kosaka Y, Yanagisawa R, Koike K, Kanai R, Imai T, Hongo T, Park MJ, Sugita K, Ito E
    • Journal Title

      Haematologica 95

      Pages: 1293-1299

    • Related Report
      2010 Final Research Report
  • [Journal Article] Down syndrome and GATA1 mutations in transient abnormal myeloprol iferative disorder : mutation classes correlate with progression to myeloid leukemia2010

    • Author(s)
      Rika Kanezaki
    • Journal Title

      Blood

      Volume: 116 Pages: 4631-4638

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency.2009

    • Author(s)
      Minakawa S, Takeda H, Nakano H, Tono C, Takahashi Y, Sasaki S, Terui K, Ito E, Sawamura D
    • Journal Title

      Clin Exp Dermatol 34

    • Related Report
      2010 Final Research Report
  • [Journal Article] 小児科領域の血液疾患 一過性骨髄増殖性疾患2009

    • Author(s)
      伊藤悦朗,土岐力,金崎理香,佐藤知彦,照井君典,足立壮一
    • Journal Title

      日本検査血液学会雑誌 10

      Pages: 457-464

    • Related Report
      2010 Final Research Report
  • [Journal Article] 一過性骨髄増殖症.小児疾患診療のための病態生理2009

    • Author(s)
      土岐力、照井君典、伊藤悦朗
    • Journal Title

      小児内科増刊号 41

      Pages: 1183-1186

    • Related Report
      2010 Final Research Report
  • [Journal Article] 一過性骨髄増殖症2009

    • Author(s)
      土岐力
    • Journal Title

      小児疾患診療のための病態生理小児内科増刊号 41

      Pages: 1183-1186

    • Related Report
      2009 Annual Research Report
  • [Journal Article]2009

    • Author(s)
      伊藤悦朗
    • Journal Title

      血液腫瘍アトラス第4版(日本医事新報社)

      Pages: 183-186

    • Related Report
      2009 Annual Research Report
  • [Journal Article] Two novel variants of MOZ-CBP fusion transcripts in spontaneously remitted congenital leukemia with t(1;16;8)(p13;p13;p11), a new variant of t(8;16)(p11;p13).2008

    • Author(s)
      Terui K, Sato T, Kamio T, Kudo K, Sasaki S, Ito E
    • Journal Title

      Haematologica 93

      Pages: 1591-1593

    • Related Report
      2010 Final Research Report
  • [Journal Article] Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome.2008

    • Author(s)
      Sato T, Toki T, Kanezaki R, Xu G, Terui K, Kanegane H, Miura M, Adachi S, Migita M, Morinaga S, Nakano T, Endo M, Kojima S, Kiyoi H, Mano H, Ito E
    • Journal Title

      Br J Haematol 141

      Pages: 681-688

    • Related Report
      2010 Final Research Report
  • [Journal Article] Juvenile myelomonocytic leukemia presenting multiple painful erythematous lesions diagnosed as Sweet's syndrome.2008

    • Author(s)
      Kitamura H, Kaneko T, Nakano H, Terui K, Ito E, Sawamura D
    • Journal Title

      J Dermatol 35

      Pages: 368-370

    • NAID

      10024297132

    • Related Report
      2010 Final Research Report
  • [Journal Article] ダウン症候群に合併する急性巨核芽球性白血病の発症メカニズム2008

    • Author(s)
      照井君典,伊藤悦朗
    • Journal Title

      血液フロンティア 18

      Pages: 83-590

    • Related Report
      2010 Final Research Report
  • [Journal Article] Functional analysis of JAK3 mutations in transient myel oproliferative disorder and acute megakaryoblastic leuk emia accompanying Down syndrome2008

    • Author(s)
      Tomohiko Sato
    • Journal Title

      British Journal of Haematology 141

      Pages: 681-688

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Two novel variants of MOZ-CBP fusion transcripts in spc ntaneously remitted infant leukemia with t(1 ; 16 ; 8) (p13 ; p13 ; p11), a new variant of t(8 ; 16)(p11 ; p13)2008

    • Author(s)
      Kiminori Terui
    • Journal Title

      Haematologica 93

      Pages: 1591-1593

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Presentation] ダウン症候群に発症する急性骨髄性白血病病理中央診断の解析2010

    • Author(s)
      伊藤雅文
    • Organizer
      第52回日本小児血液学会
    • Place of Presentation
      大阪国際会議場(大阪市)
    • Year and Date
      2010-12-18
    • Related Report
      2010 Annual Research Report
  • [Presentation] 小児血液疾患の分子診断の進歩とその臨床応用TAMの分子診断2010

    • Author(s)
      伊藤悦朗
    • Organizer
      第113回日本小児科学会
    • Place of Presentation
      いわて県民情報交流センター(盛岡市)
    • Year and Date
      2010-04-25
    • Related Report
      2010 Annual Research Report
  • [Presentation] ダウン症候群に発症する一過性骨髄異常増殖症(TAM)TAMにみられたGATA1遺伝子異常の最近の話題2010

    • Author(s)
      土岐力,伊藤悦朗
    • Organizer
      第52回日本小児血液学会
    • Place of Presentation
      大阪
    • Related Report
      2010 Final Research Report
  • [Presentation] 典型例とは異なる緩徐な臨床経過を示し、リボソームタンパク遺伝子RPL11の変異の検出により診断したDiamond-Blackfan貧血の1例2010

    • Author(s)
      佐野弘純,朴明子,外松学,今野友貴,土岐力,伊藤悦朗,林泰秀
    • Organizer
      第52回日本小児血液学会
    • Place of Presentation
      大阪
    • Related Report
      2010 Final Research Report
  • [Presentation] ダウン症候群に発症する急性骨髄性白血病病理中央診断の解析2010

    • Author(s)
      伊藤雅文,木下明俊,多賀崇,宮地勇人,滝智彦,高橋浩之,照井君典,清河信敬,出口隆生,林泰秀,多和昭雄,太田秀明,足立壮一
    • Organizer
      第52回日本小児血液学会
    • Place of Presentation
      大阪
    • Related Report
      2010 Final Research Report
  • [Presentation] 小児血液疾患の分子診断の進歩とその臨床応用TAM発症の分子診断2010

    • Author(s)
      伊藤悦朗,照井君典,佐藤知彦,土岐力
    • Organizer
      第113回日本小児科学会
    • Place of Presentation
      盛岡
    • Related Report
      2010 Final Research Report
  • [Presentation] 17歳発症のAML with multihneage dysplasiaのダウン症例について2009

    • Author(s)
      清水淳次
    • Organizer
      第51回日本小児血液学会
    • Place of Presentation
      浦安市
    • Year and Date
      2009-11-28
    • Related Report
      2009 Annual Research Report
  • [Presentation] ダウン症候群と血液腫瘍2009

    • Author(s)
      土岐力
    • Organizer
      第71回日本血液学会
    • Place of Presentation
      京都市
    • Year and Date
      2009-10-25
    • Related Report
      2009 Annual Research Report
  • [Presentation] 一過性骨髄増殖性疾患2009

    • Author(s)
      伊藤悦朗
    • Organizer
      第10回日本検査血液学会
    • Place of Presentation
      甲府市
    • Year and Date
      2009-07-04
    • Related Report
      2009 Annual Research Report
  • [Presentation] Mutations in ribosomal protein genes of Diamond-Blackfan anemia patients in Japan.2009

    • Author(s)
      Konno Y, Toki T, Tandai S, Xu G, Terui K, Ohga S, Kojima S, Yanagisawa R, Koike K, Hasegawa D, Kosaka Y, Kanei R, Imai T, Hongo T, Park MJ, Watanabe A, Ito E
    • Organizer
      51st American Society of Hematology Annual Meeting and Exposition
    • Place of Presentation
      New Orleans, LA
    • Related Report
      2010 Final Research Report
  • [Presentation] 17歳発症のAML with multilineage dysplasiaのダウン症例について2009

    • Author(s)
      清水淳次,多賀崇,堀田真紀子,野村明孝,加藤博文,太田茂,竹内義博,西澤嘉四郎,照井君典
    • Organizer
      第51回日本小児血液学会
    • Place of Presentation
      東京
    • Related Report
      2010 Final Research Report
  • [Presentation] GATA1、JAK3、JAK2変異を有するダウン症関連急性巨核芽球性白血病由来細胞株(CHYNA)の樹立2009

    • Author(s)
      濱麻人,松本公一,土岐力,村松秀城,西尾信博,永田俊人,高橋義行,伊藤悦朗,小島勢二
    • Organizer
      第51回日本小児血液学会
    • Place of Presentation
      東京
    • Related Report
      2010 Final Research Report
  • [Presentation] 小児血液腫瘍の発症リスクと先天異常 ダウン症候群と血液腫瘍2009

    • Author(s)
      土岐力,伊藤悦朗
    • Organizer
      第71回日本血液学会
    • Place of Presentation
      京都
    • Related Report
      2010 Final Research Report
  • [Presentation] 本邦のDiamond-Blackfan貧血患者におけるリボゾームタンパク遺伝子の変異2009

    • Author(s)
      今野友貴,丹代諭,徐剛,土岐力,工藤耕,照井君典,大賀正一,小島勢二,長谷川大一郎,青木由貴,金井理恵,今井剛,本郷輝明,朴明子,柳沢龍,伊藤悦朗
    • Organizer
      第71回日本血液学会
    • Place of Presentation
      京都
    • Related Report
      2010 Final Research Report
  • [Presentation] 新規KIT選択的阻害剤KI-328の抗白血病細胞効果の検討2009

    • Author(s)
      辻村朱音,塩津行正,清井仁,石川裕一,森裕美子,石田広志,新美圭子,土岐力,伊藤悦朗,直江知樹
    • Organizer
      第71回日本血液学会
    • Place of Presentation
      京都
    • Related Report
      2010 Final Research Report
  • [Presentation] 小児科領域の血液疾患 一過性骨髄増殖性疾患2009

    • Author(s)
      伊藤悦朗,土岐力,金崎里香,佐藤知彦,照井君典,足立壮一
    • Organizer
      第10回日本検査血液学会
    • Place of Presentation
      甲府
    • Related Report
      2010 Final Research Report
  • [Presentation] t(1 ; 16 ; 8)を有する新生児AMLの自然寛解例で認められたMOZ-CBP融合遺伝子の新規variant2008

    • Author(s)
      照井君典
    • Organizer
      第50回日本小児血液学会総会
    • Place of Presentation
      千葉市
    • Year and Date
      2008-11-14
    • Related Report
      2008 Annual Research Report
  • [Presentation] ダウン症候群関連白血病およびTMDにおけるJAK3遺伝子変異の機能解析2008

    • Author(s)
      佐藤知彦
    • Organizer
      第70回日本血液学会総会
    • Place of Presentation
      京都市
    • Year and Date
      2008-10-11
    • Related Report
      2008 Annual Research Report
  • [Presentation] t(1;16;8)を有する新生児AMLの自然寛解例で認められたMOZ-CBP融合遺伝子の新規variant2008

    • Author(s)
      照井君典,佐藤知彦,神尾卓哉,工藤耕,佐々木伸也,土岐力,高橋良博,菊地陽,伊藤悦朗
    • Organizer
      第50回日本小児血液学会
    • Place of Presentation
      千葉
    • Related Report
      2010 Final Research Report
  • [Presentation] ダウン症関連白血病およびTMDにおけるJAK3遺伝子変異の機能解析2008

    • Author(s)
      佐藤知彦,土岐力,金崎里香,徐剛,照井君典,金兼弘和,三浦正義,足立壮一,右田昌宏,森永信吾,中野崇秀,遠藤幹也,小島勢二,清井仁,間野博行,伊藤悦朗
    • Organizer
      第70回日本血液学会
    • Place of Presentation
      京都
    • Related Report
      2010 Final Research Report
  • [Presentation] ダウン症関連白血病細胞の増殖におけるStem cell factor/KITシグナリング2008

    • Author(s)
      土岐力,金崎里香,足立壮一,徐剛,佐藤知彦,鈴木か, ほり,田内久道,遠藤幹也,伊藤悦朗
    • Organizer
      第70回日本血液学会
    • Place of Presentation
      京都
    • Related Report
      2010 Final Research Report
  • [Book] 血液腫瘍アトラス 第4版(阿部達生編)(Down症候群患者に発症したM7におけるGATA1遺伝子突然変異)2009

    • Author(s)
      伊藤悦朗、照井君典
    • Publisher
      日本医事新報社
    • Related Report
      2010 Final Research Report
  • [Remarks] ホームページ等

    • URL

      http://www.med.hirosaki-u.ac.jp/~pedia/

    • Related Report
      2010 Final Research Report

URL: 

Published: 2008-04-01   Modified: 2016-04-21  

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