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J-GLOBAL ID：201902291008819992   整理番号：19A1968808

ダウン症候群の小児における骨髄性前白血病の形質転換骨髄性白血病への進行のメカニズム【JST・京大機械翻訳】

Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome

著者 (39件)： Labuhn Maurice (Pediatric Hematology and Oncology, Hannover Medical School, 30625 Hannover, Germany) ,  Perkins Kelly (MRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK) ,  Matzk Soren (Pediatric Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, 06120 Halle, Germany) ,  Matzk Soren (Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany) ,  Varghese Leila (Ludwig Institute for Cancer Research Brussels Branch, 1200 Brussels, Belgium) ,  Garnett Catherine (MRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK) ,  Papaemmanuil Elli (Departments of Epidemiology and Biostatistics and Cancer Biology, MSKCC, New York, NY 10065, USA) ,  Metzner Marlen (MRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK) ,  Kennedy Alison (MRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK) ,  Amstislavskiy Vyacheslav (Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany) ,  Risch Thomas (Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany) ,  Bhayadia Raj (Pediatric Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, 06120 Halle, Germany) ,  Samulowski David (Pediatric Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, 06120 Halle, Germany) ,  Hernandez David Cruz (MRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK) ,  Stoilova Bilyana (MRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK) ,  Iotchkova Valentina (MRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK) ,  Oppermann Udo (Botnar Research Centre, NDORMS, Oxford NIHR BRC and Structural Genomics Consortium, UK University of Oxford, Oxford OX3 7LD, UK) ,  Scheer Carina (Pediatric Hematology and Oncology, Hannover Medical School, 30625 Hannover, Germany) ,  Yoshida Kenichi (Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Sakyo-ku, Kyoto 606-8315 Japan) ,  Schwarzer Adrian (Pediatric Hematology and Oncology, Hannover Medical School, 30625 Hannover, Germany) ,  Taub Jeffrey (Division of Pediatric Hematology/Oncology, Children’s Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI 48201, USA) ,  Crispino John D. (Division of Hematology/Oncology, Northwestern University, Chicago, IL 60611, USA) ,  Weiss Mitchell J. (Hematology Department, St. Jude Children’s Research Hospital, Memphis, TN 38105, USA) ,  Hayashi Asuhide (Institute of Physiology and Medicine, Jobu University, Takasaki-shi, Gunma 370-0033, Japan) ,  Taga Takashi (Department of Pediatrics, Shiga University of Medical Science, Shiga 520-2192, Japan) ,  Ito Etsuro (Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan) ,  Ogawa Seishi (Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Sakyo-ku, Kyoto 606-8315 Japan) ,  Ogawa Seishi (Center for Hematology and Regenerative Medicine, Karolinska Institute, 171 77 Stockholm, Sweden) ,  Reinhardt Dirk (Pediatric Hematology and Oncology, Pediatrics III, University Hospital Essen, 45122 Essen, Germany) ,  Yaspo Marie-Laure (Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany) ,  Campbell Peter J. (Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK) ,  Roberts Irene (MRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK) ,  Roberts Irene (Department of Paediatrics, University of Oxford, Oxford OX3 9DS, UK) ,  Constantinescu Stefan (Ludwig Institute for Cancer Research Brussels Branch, 1200 Brussels, Belgium) ,  Vyas Paresh (MRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK) ,  Vyas Paresh (Department of Haematology, Oxford University Hospitals NHS Trust, Oxford OX3 7LE, UK) ,  Heckl Dirk (Pediatric Hematology and Oncology, Hannover Medical School, 30625 Hannover, Germany) ,  Heckl Dirk (Pediatric Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, 06120 Halle, Germany) ,  Klusmann Jan-Henning (Pediatric Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, 06120 Halle, Germany)
資料名： Cancer Cell  (Cancer Cell)
巻： 36  号： 2  ページ： 123-138.e10  発行年： 2019年 
JST資料番号： W1844A  ISSN： 1535-6108  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： ダウン症候群(ML-DS)における骨髄性白血病は,DS新生児における前白血病状態である一過性異常骨髄造血(TAM)からクローン的に進化する。白血病形質転換の機構を定義するために,著者らは,機能的分析によって111TAMと141ML-DSサンプルのexomeと標的化再配列を組み合わせた。TAMはトリソミー21を必要とし,GATA1で突然変異を切断する;付加的TAM変異体は通常病原性ではない。対照的に,ML-DSにおいて,クローンおよびサブクローン変異体は機能的に必要である。著者らは,骨髄性サイトカイン受容体CSF2RBにおける再発性および発癌性のホットスポット獲得機能突然変異を同定した。in vivoマウスTAMモデルにおける多重CRISPR/Cas9スクリーニングにより,22の再変異ML-DS遺伝子の機能喪失を試験した。18の異なる遺伝子の損失は,表現型的に,遺伝的に,そして転写的にML-DSを反映する白血病を産生した。Copyright 2019 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 新生児 ,  再発 ,  *白血病 ,  スクリーニング ,  突然変異 ,  遺伝子 ,  *Down症候群 ,  ターゲティング ,  クローン ,  ヒト ,  変異 ,  ホットスポット ,  *骨髄 ,  遺伝
準シソーラス用語： Cas9 ,  GATA1転写因子 , 【Automatic Indexing@JST】

著者キーワード (6件)： 急性骨髄性白血病 ,  ダウン症候群 ,  前白血病 ,  癌形質転換 ,  CRISPRスクリーン ,  GATA1

分類 (1件)： 血液の腫よう  (GK04000M)

タイトルに関連する用語 (7件)： ダウン症候群 ,  小児 ,  骨髄 ,  前白血病 ,  形質転換 ,  骨髄性白血病 ,  メカニズム