Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid Leukemia

Takeda, June; Yoshida, Kenichi; Nakagawa, Masahiro M.; Nannya, Yasuhito; Yoda, Akinori; Saiki, Ryunosuke; Ochi, Yotaro; Zhao, Lanying; Okuda, Rurika; Qi, Xingxing; Mori, Takuto; Kon, Ayana; Chiba, Kenichi; Tanaka, Hiroko; Shiraishi, Yuichi; Kuo, Ming-Chung; Kerr, Cassandra M.; Nagata, Yasunobu; Morishita, Daisuke; Hiramoto, Nobuhiro; Hangaishi, Akira; Nakazawa, Hideyuki; Ishiyama, Ken; Miyano, Satoru; Chiba, Shigeru; Miyazaki, Yasushi; Kitano, Toshiyuki; Usuki, Kensuke; Sezaki, Nobuo; Tsurumi, Hisashi; Miyawaki, Shuichi; Maciejewski, Jaroslaw P.; Ishikawa, Takayuki; Ohyashiki, Kazuma; Ganser, Arnold; Heuser, Michael; Thol, Felicitas; Shih, Lee-Yung; Takaori-Kondo, Akifumi; Makishima, Hideki; Ogawa, Seishi

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http://hdl.handle.net/2433/276187

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DCフィールド	値	言語
dc.contributor.author	Takeda, June	en
dc.contributor.author	Yoshida, Kenichi	en
dc.contributor.author	Nakagawa, Masahiro M.	en
dc.contributor.author	Nannya, Yasuhito	en
dc.contributor.author	Yoda, Akinori	en
dc.contributor.author	Saiki, Ryunosuke	en
dc.contributor.author	Ochi, Yotaro	en
dc.contributor.author	Zhao, Lanying	en
dc.contributor.author	Okuda, Rurika	en
dc.contributor.author	Qi, Xingxing	en
dc.contributor.author	Mori, Takuto	en
dc.contributor.author	Kon, Ayana	en
dc.contributor.author	Chiba, Kenichi	en
dc.contributor.author	Tanaka, Hiroko	en
dc.contributor.author	Shiraishi, Yuichi	en
dc.contributor.author	Kuo, Ming-Chung	en
dc.contributor.author	Kerr, Cassandra M.	en
dc.contributor.author	Nagata, Yasunobu	en
dc.contributor.author	Morishita, Daisuke	en
dc.contributor.author	Hiramoto, Nobuhiro	en
dc.contributor.author	Hangaishi, Akira	en
dc.contributor.author	Nakazawa, Hideyuki	en
dc.contributor.author	Ishiyama, Ken	en
dc.contributor.author	Miyano, Satoru	en
dc.contributor.author	Chiba, Shigeru	en
dc.contributor.author	Miyazaki, Yasushi	en
dc.contributor.author	Kitano, Toshiyuki	en
dc.contributor.author	Usuki, Kensuke	en
dc.contributor.author	Sezaki, Nobuo	en
dc.contributor.author	Tsurumi, Hisashi	en
dc.contributor.author	Miyawaki, Shuichi	en
dc.contributor.author	Maciejewski, Jaroslaw P.	en
dc.contributor.author	Ishikawa, Takayuki	en
dc.contributor.author	Ohyashiki, Kazuma	en
dc.contributor.author	Ganser, Arnold	en
dc.contributor.author	Heuser, Michael	en
dc.contributor.author	Thol, Felicitas	en
dc.contributor.author	Shih, Lee-Yung	en
dc.contributor.author	Takaori-Kondo, Akifumi	en
dc.contributor.author	Makishima, Hideki	en
dc.contributor.author	Ogawa, Seishi	en
dc.contributor.alternative	竹田, 淳恵	ja
dc.contributor.alternative	吉田, 健一	ja
dc.contributor.alternative	中川, 正宏	ja
dc.contributor.alternative	南谷, 泰仁	ja
dc.contributor.alternative	依田, 成玄	ja
dc.contributor.alternative	佐伯, 龍之介	ja
dc.contributor.alternative	越智, 陽太郎	ja
dc.contributor.alternative	趙, 蘭英	ja
dc.contributor.alternative	奥田, 瑠璃花	ja
dc.contributor.alternative	戚, 星星	ja
dc.contributor.alternative	森, 拓人	ja
dc.contributor.alternative	昆, 彩奈	ja
dc.contributor.alternative	千葉, 健一	ja
dc.contributor.alternative	田中, 洋子	ja
dc.contributor.alternative	白石, 友一	ja
dc.contributor.alternative	郭, 明宗	ja
dc.contributor.alternative	永田, 安伸	ja
dc.contributor.alternative	森下, 大輔	ja
dc.contributor.alternative	平本, 展大	ja
dc.contributor.alternative	半下石, 明	ja
dc.contributor.alternative	中澤, 英之	ja
dc.contributor.alternative	石山, 謙	ja
dc.contributor.alternative	宮野, 悟	ja
dc.contributor.alternative	千葉, 滋	ja
dc.contributor.alternative	宮崎, 泰司	ja
dc.contributor.alternative	北野, 俊行	ja
dc.contributor.alternative	臼杵, 憲祐	ja
dc.contributor.alternative	瀬崎, 伸夫	ja
dc.contributor.alternative	鶴見, 寿	ja
dc.contributor.alternative	宮脇, 修一	ja
dc.contributor.alternative	石川, 隆之	ja
dc.contributor.alternative	大屋敷, 一馬	ja
dc.contributor.alternative	施, 麗雲	ja
dc.contributor.alternative	髙折, 晃史	ja
dc.contributor.alternative	牧島, 秀樹	ja
dc.contributor.alternative	小川, 誠司	ja
dc.date.accessioned	2022-09-07T06:24:46Z	-
dc.date.available	2022-09-07T06:24:46Z	-
dc.date.issued	2022-09-01	-
dc.identifier.uri	http://hdl.handle.net/2433/276187	-
dc.description	ゲノム解析から急性赤白血病の変異プロファイルと治療標的を解明 --特定の遺伝子変異群の組み合わせと、特徴となる遺伝子の増幅が鍵--. 京都大学プレスリリース. 2022-08-05.	ja
dc.description.abstract	Acute erythroid leukemia (AEL) is a unique subtype of acute myeloid leukemia characterized by prominent erythroid proliferation whose molecular basis is poorly understood. To elucidate the underlying mechanism of erythroid proliferation, we analyzed 121 AEL using whole-genome/exome and/or targeted-capture sequencing, together with transcriptome analysis of 21 AEL samples. Combining publicly available sequencing data, we found a high frequency of gains/amplifications involving EPOR/JAK2 in TP53-mutated cases, particularly those having >80% erythroblasts designated as pure erythroid leukemia (10/13). These cases were frequently accompanied by gains/amplifications of ERG/ETS2 and associated with a very poor prognosis, even compared with other TP53-mutated AEL. In addition to activation of the STAT5 pathway, a common feature across all AEL cases, these AEL cases exhibited enhanced cell proliferation and heme metabolism and often showed high sensitivity to ruxolitinib in vitro and in xenograft models, highlighting a potential role of JAK2 inhibition in therapeutics of AEL.	en
dc.language.iso	eng	-
dc.publisher	American Association for Cancer Research (AACR)	en
dc.rights	©2022 The Authors; Published by the American Association for Cancer Research	en
dc.rights	This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.	en
dc.rights.uri	http://creativecommons.org/licenses/by-nc-nd/4.0	-
dc.title	Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid Leukemia	en
dc.type	journal article	-
dc.type.niitype	Journal Article	-
dc.identifier.jtitle	Blood Cancer Discovery	en
dc.identifier.volume	3	-
dc.identifier.issue	5	-
dc.identifier.spage	410	-
dc.identifier.epage	427	-
dc.relation.doi	10.1158/2643-3230.BCD-21-0192	-
dc.textversion	publisher	-
dc.address	Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University	en
dc.address	Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University	en
dc.address	Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University	en
dc.address	Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University; Division of Hematopoietic Disease Control, The Institute of Medical Science, The University of Tokyo	en
dc.address	Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University	en
dc.address	Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University	en
dc.address	Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University	en
dc.address	Institute for the Advanced Study of Human Biology (WPI ASHBi), Kyoto University	en
dc.address	Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University	en
dc.address	Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University	en
dc.address	Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University	en
dc.address	Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University	en
dc.address	Division of Genome Analysis Platform Development, National Cancer Center Research Institute	en
dc.address	M&D Data Science Center, Tokyo Medical and Dental University	en
dc.address	Division of Genome Analysis Platform Development, National Cancer Center Research Institute	en
dc.address	Division of Hematology−Oncology, Department of Internal Medicine, Chang Gung Memorial Hospital-Linkou, Chang Gung University	en
dc.address	Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic	en
dc.address	Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic	en
dc.address	Chordia Therapeutics Inc.	en
dc.address	Department of Hematology, Kobe City Medical Center General Hospital	en
dc.address	Department of Hematology, NTT Medical Centre Tokyo	en
dc.address	Department of Hematology, Shinshu University Hospital	en
dc.address	Department of Hematology, Kanazawa University	en
dc.address	M&D Data Science Center, Tokyo Medical and Dental University	en
dc.address	Department of Hematology, Faculty of Medicine, University of Tsukuba	en
dc.address	Department of Hematology, Atomic Bomb Disease Institute, Nagasaki University; Japan Adult Leukemia Study Group	en
dc.address	Department of Hematology, Kitano Hospital, Tazuke Kofukai Medical Research Institute	en
dc.address	Department of Hematology, NTT Medical Centre Tokyo	en
dc.address	Department of Hematology, Chugoku Central Hospital	en
dc.address	Department of Hematology, Gifu University	en
dc.address	Division of Hematology, Tokyo Metropolitan Ohtsuka Hospital	en
dc.address	Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic	en
dc.address	Department of Hematology, Kobe City Medical Center General Hospital	en
dc.address	Department of Hematology, Tokyo Medical University	en
dc.address	Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School	en
dc.address	Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School	en
dc.address	Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School	en
dc.address	Division of Hematology−Oncology, Department of Internal Medicine, Chang Gung Memorial Hospital-Linkou, Chang Gung University	en
dc.address	Department of Hematology/Oncology, Graduate School of Medicine, Kyoto University	en
dc.address	Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University	en
dc.address	Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University; Institute for the Advanced Study of Human Biology (WPI ASHBi), Kyoto University; Center for Hematology and Regenerative Medicine, Karolinska Institutet	en
dc.identifier.pmid	35839275	-
dc.relation.url	https://www.kyoto-u.ac.jp/ja/research-news/2022-08-05-1	-
dcterms.accessRights	open access	-
datacite.awardNumber	15H05909	-
datacite.awardNumber	26221308	-
datacite.awardNumber	19H05656	-
datacite.awardNumber	19H01053	-
datacite.awardNumber	22H02817	-
datacite.awardNumber.uri	https://kaken.nii.ac.jp/grant/KAKENHI-PLANNED-15H05909/	-
datacite.awardNumber.uri	https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-26221308/	-
datacite.awardNumber.uri	https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-19H05656/	-
datacite.awardNumber.uri	https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-19H01053/	-
datacite.awardNumber.uri	https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22H02817/	-
dc.identifier.pissn	2643-3230	-
dc.identifier.eissn	2643-3249	-
jpcoar.funderName	日本学術振興会	ja
jpcoar.funderName	日本学術振興会	ja
jpcoar.funderName	日本学術振興会	ja
jpcoar.funderName	日本学術振興会	ja
jpcoar.funderName	日本学術振興会	ja
jpcoar.awardTitle	大規模シーケンスとコンピューティングによるがんの進化と多様性の解明	ja
jpcoar.awardTitle	骨髄異形成症候群(MDS)の分子基盤の解明	ja
jpcoar.awardTitle	先端ゲノミクスを駆使したがんの初期発生とクローン進化に関わる分子基盤の解明	ja
jpcoar.awardTitle	骨髄不全症候群における胚細胞変異および体細胞変異の解明に基づく新規治療開発	ja
jpcoar.awardTitle	希少骨髄性腫瘍の実験モデルの作成と新規治療法の開発	ja
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