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Clinical application of germline and somatic mutations in bone marrow failure syndromes.

Research Project

Project/Area Number 19H01053
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Review Section Medium-sized Section 54:Internal medicine of the bio-information integration and related fields
Research InstitutionShinshu University (2023)
Kyoto University (2019-2022)

Principal Investigator

Makishima Hideki  信州大学, 学術研究院医学系, 教授 (40402127)

Co-Investigator(Kenkyū-buntansha) 村松 秀城  名古屋大学, 医学部附属病院, 講師 (00572570)
前田 高宏  九州大学, 医学研究院, 教授 (00791972)
宮崎 泰司  長崎大学, 原爆後障害医療研究所, 教授 (40304943)
Project Period (FY) 2019-04-01 – 2024-03-31
Project Status Completed (Fiscal Year 2023)
Budget Amount *help
¥45,110,000 (Direct Cost: ¥34,700,000、Indirect Cost: ¥10,410,000)
Fiscal Year 2023: ¥8,840,000 (Direct Cost: ¥6,800,000、Indirect Cost: ¥2,040,000)
Fiscal Year 2022: ¥8,840,000 (Direct Cost: ¥6,800,000、Indirect Cost: ¥2,040,000)
Fiscal Year 2021: ¥8,840,000 (Direct Cost: ¥6,800,000、Indirect Cost: ¥2,040,000)
Fiscal Year 2020: ¥8,840,000 (Direct Cost: ¥6,800,000、Indirect Cost: ¥2,040,000)
Fiscal Year 2019: ¥9,750,000 (Direct Cost: ¥7,500,000、Indirect Cost: ¥2,250,000)
Keywords骨髄不全症候群 / 骨髄異形成症候群 / DDX41 / 胚細胞性変異 / 造血幹細胞移植 / 脱メチル化薬 / 予後 / 治療効果 / 再生不良性貧血 / 発作性夜間血色素尿症 / ゲノム解析 / 体細胞性変異 / クローン性造血 / 急性骨髄性白血病 / 胚細胞変異 / 体細胞変異 / 悪性リンパ腫 / HAVCR2
Outline of Research at the Start

骨髄不全症は、骨髄幹細胞の低形成に起因し、輸血や造血幹細胞移植を必要とする難治性疾患である。われわれは、後天性の遺伝子異常のみならず(Yoshizato et al. N Engl J Med. 2015)、先天性の胚細胞変異が、予想以上に高頻度に高齢発症の骨髄異形成症候群において陽性であることを明らかにした(Polprasert et al. Cancer Cell. 2015)。そこで、骨髄不全症においても常識をくつがえす胚細胞異常が認められる可能性を考え、関連する体細胞変異を来す原因を明らかにし、骨髄不全症の生涯発症リスクの推定、および予測モデルの構築を可能とし、予防の可能性を提案する。

Outline of Final Research Achievements

In this international collaborative study, we analyzed the largest cohort of cases (more than 9,000) with myelodysplastic syndromes (MDS) and their related diseases, which are the most prevalent subtype of adult bone marrow failure syndromes, and confirmed that DDX41 germline mutation is the most frequent among known inherited genetic causes of MDS. Accordingly, the investigation of the largest number of DDX41-mutated cases enabled us to reveal a distinct clinical phenotype with highly frequent leukemic evolution and better prognosis resulted from distinct somatic mutation pattern. We also calculated DDX41-associated life-long penetrance as approximately 50%. These results will help to solve the clinical problems associated with predisposition in MDS. Therefore, we concluded that DDX41-mutated MDS is a distinct entity of bone marrow failure syndromes and that screening DDX41 is essential for management of MDS patients and their relatives.

Academic Significance and Societal Importance of the Research Achievements

従来の研究では先天性遺伝子異常は若年者の疾患と関連しているとみなされていたが、本研究によりDDX41の胚細胞性変異は高齢発症の骨髄不全症である骨髄異形成症候群において陽性となり、家族歴の検討により変異キャリアーは40歳まではほとんど発症せず、90歳までに約半数が発症することを明らかにした。このことは、これまでの定説を覆す学術的に極めて意義の大きい発見である。また、DDX41変異陽性血縁者からの骨髄移植後に、ドナー由来白血病が発症することが判明し、血縁ドナー候補が高い確率でDDX41変異キャリアーと診断されている。遺伝カウンセリングの際に将来の発症率の情報を提供可能となった社会的意義も大きい。

Report

(7 results)
  • 2023 Annual Research Report   Final Research Report ( PDF )
  • 2022 Annual Research Report
  • 2021 Annual Research Report
  • 2020 Annual Research Report
  • 2019 Comments on the Screening Results   Annual Research Report
  • Research Products

    (76 results)

All 2023 2022 2021 2020 2019 2018 Other

All Int'l Joint Research (30 results) Journal Article (28 results) (of which Int'l Joint Research: 26 results,  Peer Reviewed: 28 results,  Open Access: 23 results) Presentation (17 results) (of which Int'l Joint Research: 12 results,  Invited: 6 results) Remarks (1 results)

  • [Int'l Joint Research] クリーブランドクリニック/シカゴ大学/セントジュードこども病院(米国)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] カロリンスカ大学(スウェーデン)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] ローマ大学/オスペダーレ・マッジョーレ・ディ・ミラノ/ペルージャ大学病院(イタリア)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] キングスカレッジ/ロンドン大学(英国)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] レーゲンスブルク大学/フライブルク大学(ドイツ)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research]

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] クリーブランドクリニック/シカゴ大学/テキサス大学(米国)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] カロリンスカ大学(スウェーデン)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] チュラロンコン大学(タイ)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] キングスカレッジ(英国)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] ミュンヘン白血病研究所/ハイデルベルグ大学(ドイツ)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research]

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] クリーブランドクリニック/シカゴ大学/テキサス大学(米国)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] カロリンスカ大学(スウェーデン)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] チュラロンコン大学(タイ)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] キングスカレッジ(英国)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] ミュンヘン白血病研究所/ハイデルベルグ大学(ドイツ)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research]

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] クリーブランドクリニック/テキサス大学/マイアミ大学(米国)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] カロリンスカ大学(スウェーデン)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] チュラロンコン大学(タイ)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] パビア大学(イタリア)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] ミュンヘン白血病研究所(ドイツ)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research]

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] Cleveland Clinic(米国)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] King Chulalongkorn Memorial Hospital(タイ)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] McGill University(カナダ)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] Assiut University(エジプト)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] Munich Leukemia Laboratory(ドイツ)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research]

    • Related Report
      2019 Annual Research Report
  • [Journal Article] Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms2023

    • Author(s)
      Nannya Yasuhito, Ogawa Seishi, et al.
    • Journal Title

      Blood Advances

      Volume: 7 Issue: 14 Pages: 3624-3636

    • DOI

      10.1182/bloodadvances.2022009564

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Germline predisposition traits in allogeneic hematopoietic stem-cell transplantation for myelodysplastic syndromes: a survey-based study and position paper on behalf of the Chronic Malignancies Working Party of the EBMT.2023

    • Author(s)
      Gurnari C, Robin M, Godley LA, Drozd-Sokolowska J, Wlodarski MW, Raj K, Onida F, Worel N, Ciceri F, Carbacioglu S, Kenyon M, Aljurf M, Bonfim C, Makishima H, et al.
    • Journal Title

      Lancet Haematol.

      Volume: 12 Issue: 12 Pages: e994-e1005

    • DOI

      10.1016/s2352-3026(23)00265-x

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Germ line <i>DDX41</i> mutations define a unique subtype of myeloid neoplasms2023

    • Author(s)
      Makishima H, Saiki R, Nannya Y, (17人省略), Kon A, (28人省略), Maciejewski JP, Ogawa S.
    • Journal Title

      Blood

      Volume: 141 Issue: 5 Pages: 534-549

    • DOI

      10.1182/blood.2022018221

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] DDX41-associated susceptibility to myeloid neoplasms.2023

    • Author(s)
      Makishima H, Bowman TV, Godley LA.
    • Journal Title

      Blood.

      Volume: 141 Issue: 13 Pages: 1544-1552

    • DOI

      10.1182/blood.2022017715

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Amplified <i>EPOR</i>/<i>JAK2</i> Genes Define a Unique Subtype of Acute Erythroid Leukemia2022

    • Author(s)
      Takeda J, Kenichi Y, (9人省略), Kon A (12/41番目), (途中省略), Makishima H, Ogawa S
    • Journal Title

      Blood Cancer Discovery

      Volume: 3 Issue: 5 Pages: 410-427

    • DOI

      10.1158/2643-3230.bcd-21-0192

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Clonal hematopoiesis in aplastic anemia and paroxysmal nocturnal hemoglobinuria2022

    • Author(s)
      Makishima H.
    • Journal Title

      Rinsho Ketsueki

      Volume: 63 Issue: 9 Pages: 1042-1045

    • DOI

      10.11406/rinketsu.63.1042

    • ISSN
      0485-1439, 1882-0824
    • Related Report
      2022 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The landscape of genetic aberrations in myxofibrosarcoma2022

    • Author(s)
      Takeuchi Y, Yoshida K, Halik A, Kunitz A, Suzuki H, Kakiuchi N, Shiozawa Y, Yokoyama A, Inoue Y, Hirano T, Yoshizato T, Aoki K, Fujii Y, Nannya Y, Makishima H, Pfitzner BM, Bullinger L, Hirata M, Jinnouchi K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Okamoto T, Haga H, Ogawa S, Damm F.
    • Journal Title

      Int J Cancer

      Volume: - Issue: 4 Pages: 565-577

    • DOI

      10.1002/ijc.34051

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemia.2021

    • Author(s)
      Ochi Y, Yoshida K, Huang YJ, Kuo MC, Nannya Y, Sasaki K, Mitani K, et al.
    • Journal Title

      Nat comm

      Volume: 12 Issue: 1 Pages: 2833-2833

    • DOI

      10.1038/s41467-021-23097-w

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Molecular classification and diagnostics of upper urinary tract urothelial carcinoma2021

    • Author(s)
      藤井陽一、佐藤悠佑、鈴木啓道、川合剛人、森川鉄平、白石友一、中川徹、久米春喜、小川誠司他
    • Journal Title

      Cancer Cell

      Volume: 39 Issue: 6 Pages: 793-809

    • DOI

      10.1016/j.ccell.2021.05.008

    • NAID

      120007089270

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis2021

    • Author(s)
      Saiki Ryunosuke、Momozawa Yukihide、Nannya Yasuhito、Nakagawa Masahiro M.、Ochi Yotaro et al
    • Journal Title

      Nature Medicine

      Volume: 27 Issue: 7 Pages: 1239-1249

    • DOI

      10.1038/s41591-021-01411-9

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Frequent mutations in HLA and related genes in extranodal NK/T cell lymphomas. Leuk Lymphoma2021

    • Author(s)
      Polprasert C, Takeuchi Y, Makishima H, Wudhikarn K, Kakiuchi N, Tangnuntachai N, Assanasen T, Sitthi W, Muhamad H, Lawasut P, Kongkiatkamon S, Bunworasate U, Izutsu K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Yoshida K, Rojnuckarin P
    • Journal Title

      Leuk Lymphoma

      Volume: 62(1) Issue: 1 Pages: 95-103

    • DOI

      10.1080/10428194.2020.1821011

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Landscape of driver mutations and their clinical impacts in pediatric B-cell precursor acute lymphoblastic leukemia2020

    • Author(s)
      Ueno H、Yoshida K、et al, 、Sanada M
    • Journal Title

      Blood Advances

      Volume: 4 Issue: 20 Pages: 5165-5173

    • DOI

      10.1182/bloodadvances.2019001307

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Founder and subclonal mutations in myelodysplastic syndromes and related myeloid neoplasms2020

    • Author(s)
      Makishima Hideki
    • Journal Title

      Best Practice & Research Clinical Haematology

      Volume: 33 Issue: 3 Pages: 101189-101189

    • DOI

      10.1016/j.beha.2020.101189

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Machine learning demonstrates that somatic mutations imprint invariant morphologic features in myelodysplastic syndromes2020

    • Author(s)
      Nagata Yasunobu、Zhao Ran、Awada Hassan、Kerr Cassandra M.、Mirzaev Inom、Kongkiatkamon Sunisa、Nazha Aziz、Makishima Hideki、Radivoyevitch Tomas、Scott Jacob G.、Sekeres Mikkael A.、Hobbs Brian P.、Maciejewski Jaroslaw P.
    • Journal Title

      Blood

      Volume: 136 Issue: 20 Pages: 2249-2262

    • DOI

      10.1182/blood.2020005488

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Context dependent effects of ascorbic acid treatment in TET2 mutant myeloid neoplasia2020

    • Author(s)
      Guan Yihong、Greenberg Edward F.、Hasipek Metis、Chen Shi、Liu Xiaochen、Kerr Cassandra M.、Gackowski Daniel、Zarakowska Ewelina、Radivoyevitch Tomas、Gu Xiaorong、Willard Belinda、Visconte Valeria、Makishima Hideki et al.
    • Journal Title

      Communications Biology

      Volume: 3 Issue: 1

    • DOI

      10.1038/s42003-020-01220-9

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Combined Cohesin-Runx1 Deficiency Synergistically Perturbs Chromatin Looping and Causes Myelodysplastic Syndromes2020

    • Author(s)
      Ochi Y, Ogawa Seishi., et al.
    • Journal Title

      Cancer Discov

      Volume: - Issue: 6 Pages: 836-853

    • DOI

      10.1158/2159-8290.cd-19-0982

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Molecular pathogenesis of progression to myeloid leukemia from TET-insufficient status.2020

    • Author(s)
      Shrestha R, Sakata-Yanagimoto M, Maie K, Oshima M, Ishihara M, Suehara Y, Fukumoto K,1 Nakajima-Takagi Y, Matsui H, Kato T, Muto H, Sakamoto T, Kusakabe M, Nannya Y, Makishima H, Ueno H, Saiki R, Ogawa S, Chiba K, Shiraishi Y, Miyano S, Mouly E, Bernard OA, Inaba T, Koseki H, Iwama A, Chiba S
    • Journal Title

      Blood Adv.

      Volume: 4(5) Issue: 5 Pages: 845-854

    • DOI

      10.1182/bloodadvances.2019001324

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Frequent mutations that converge on the NFKBIZ pathway in ulcerative colitis2019

    • Author(s)
      Kakiuchi Nobuyuki et al.
    • Journal Title

      Nature

      Volume: 577 Issue: 7789 Pages: 260-265

    • DOI

      10.1038/s41586-019-1856-1

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes2019

    • Author(s)
      Nagata Yasunobu、Ogawa Seishi., et al.
    • Journal Title

      Nature Communications

      Volume: 10 Issue: 1 Pages: 5386-5386

    • DOI

      10.1038/s41467-019-13001-y

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Novel DDX41 variants in Thai patients with myeloid neoplasms2019

    • Author(s)
      Polprasert Chantana、Ogawa Seishi., et al.
    • Journal Title

      International Journal of Hematology

      Volume: 111 Issue: 2 Pages: 241-246

    • DOI

      10.1007/s12185-019-02770-3

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Predisposed genomic instability in pre-treatment bone marrow evolves to therapy-related myeloid neoplasms in malignant lymphoma.2019

    • Author(s)
      Katagiri S, Makishima H, Azuma K, Nannya Y, Saitoh Y, Yoshizawa S, Akahane D, Fujimoto H, Ito Y, Velaga R, Umezu T, Ohyashiki JH, Ogawa S, Ohyashiki K.
    • Journal Title

      Haematologica.

      Volume: Nov 7 Issue: 7 Pages: 229856-229856

    • DOI

      10.3324/haematol.2019.229856

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Distinct clinical and biological implications of CUX1 in myeloid neoplasms.2019

    • Author(s)
      Aly M, Ramdzan ZM, Nagata Y, Balasubramanian SK, Hosono N, Makishima H, Visconte V, Kuzmanovic T, Adema V, Nazha A, Przychodzen BP, Kerr CM, Sekeres MA, Abazeed ME, Nepveu A, Maciejewski JP.
    • Journal Title

      Blood Adv.

      Volume: 3 Issue: 14 Pages: 2164-2178

    • DOI

      10.1182/bloodadvances.2018028423

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Genomic aberrations in myelodysplastic syndromes and related disorders2019

    • Author(s)
      牧島 秀樹
    • Journal Title

      Rinsho Ketsueki

      Volume: 60 Issue: 6 Pages: 600-609

    • DOI

      10.11406/rinketsu.60.600

    • NAID

      130007675226

    • ISSN
      0485-1439, 1882-0824
    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Genome analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki2019

    • Author(s)
      Taguchi M, Mishima H, Shiozawa Y, Hayashida C, Kinoshita A, Nannya Y, Makishima H, Horai M, Matsuo M, Sato S, Itonaga H, Kato T, Taniguchi H, Imanishi D, Imaizumi Y, Hata T, Takenaka M, Moriuchi Y, Shiraishi Y, Miyano S, Ogawa S, Yoshiura K-i, Miyazaki Y
    • Journal Title

      Haematologica

      Volume: 105 Issue: 2 Pages: 358-365

    • DOI

      10.3324/haematol.2019.219386

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Molecular heterogeneity in peripheral T-cell lymphoma, not otherwise specified revealed by comprehensive genetic profiling2019

    • Author(s)
      Watatani Yosaku,Ogawa Seishi., et al.
    • Journal Title

      Leukemia

      Volume: 33 Issue: 12 Pages: 2867-2883

    • DOI

      10.1038/s41375-019-0473-1

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma2019

    • Author(s)
      Polprasert C, Takeuchi Y, Kakiuchi N, Yoshida K, Assanasen T, Sitthi W, Bunworasate U, Pirunsarn A, Wudhikarn K, Lawasut P, Uaprasert N, Kongkiatkamon S, Moonla C, Sanada M, Akita N, Takeda J, Fujii Y, Suzuki H, Nannya Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Rojnuckarin P, Ogawa S, Makishima H
    • Journal Title

      Blood Advances

      Volume: 3 Issue: 4 Pages: 588-595

    • DOI

      10.1182/bloodadvances.2018028340

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Frequent structural variations involving programmed death ligands in Epstein-Barr virus-associated lymphomas2019

    • Author(s)
      Kataoka Keisuke, Miyoshi Hiroaki, Sakata Seiji, Dobashi Akito, Couronne Lucile, Kogure Yasunori, Sato Yasuharu, Nishida Kenji, Gion Yuka, Shiraishi Yuichi, Tanaka Hiroko, et al
    • Journal Title

      Leukemia

      Volume: Epub ahead of print Issue: 7 Pages: 1687-1699

    • DOI

      10.1038/s41375-019-0380-5

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Molecular pathogenesis of disease progression in MLL-rearranged AML.2018

    • Author(s)
      Kotani S, Yoda A, Kon A, Kataoka K, Ochi Y, Shiozawa Y, Hirsch C, Takeda J, Ueno H, Yoshizato T, Yoshida K, Nakagawa MM, Nannya Y, Kakiuchi N, Yamauchi T, Aoki K, Shiraishi Y, Miyano S, Maeda T, Maciejewski JP, Takaori-Kondo A, Ogawa S, Makishima H.
    • Journal Title

      Leukemia

      Volume: 33 Issue: 3 Pages: 612-624

    • DOI

      10.1038/s41375-018-0253-3

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] Clinical impacts of DDX41 mutations on myeloid neoplasms.2023

    • Author(s)
      Hideki Makishima
    • Organizer
      第82回日本癌学会学術総会
    • Related Report
      2023 Annual Research Report
    • Invited
  • [Presentation] Genetic and Clinical Features of DDX41-Associated Myeloid Neoplasms.2023

    • Author(s)
      Hideki Makishima, Seishi Ogawa
    • Organizer
      The 13th JSH International Symposium
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Germline DDX41 Mutations: Clinical Impact and Ethnic Diversity.2023

    • Author(s)
      Hideki Makishima
    • Organizer
      The 17th international congress on myelodysplastic syndromes
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Outcome Prediction in DDX41-Mutant Myelodysplastic Syndromes Is Not Possible with General Disease Schemes and Requires a Dedicated Risk Scoring System2023

    • Author(s)
      Carmelo Gurnari, Hideki Makishima, et al.
    • Organizer
      65th ASH Annual Meeting & Exposition
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Sequential acquisition of molecular defects in MDS.2022

    • Author(s)
      Hideki Makishima
    • Organizer
      JinLing MDS MPN summit forum 南京 中国.
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 再生不良性貧血・発作性夜間血色素尿に潜むクローン性造血2022

    • Author(s)
      牧島 秀樹
    • Organizer
      第84回日本血液学会学術集会
    • Related Report
      2022 Annual Research Report
    • Invited
  • [Presentation] Germline DDX41 mutations define a unique subtype of myeloid neoplasms.2022

    • Author(s)
      Hideki Makishima, Yasuhito Nannya, June Takeda, Yukihide Momozawa, Ryunosuke Saiki, et al., Seishi Ogawa.
    • Organizer
      第84回日本血液学会学術集会
    • Related Report
      2022 Annual Research Report
  • [Presentation] Germline DDX41 mutations define a unique subtype of myeloid neoplasms.2022

    • Author(s)
      Hideki Makishima, Yasuhito Nannya, June Takeda, Yukihide Momozawa, Ryunosuke Saiki, et al., Seishi Ogawa.
    • Organizer
      第81回日本癌学会学術集会
    • Related Report
      2022 Annual Research Report
  • [Presentation] Clinical Impacts of Germline DDX41 Mutations on Myeloid Neoplasms.2022

    • Author(s)
      Hideki Makishima, Yasuhito Nannya, June Takeda, Yukihide Momozawa, Ryunosuke Saiki, et al., Seishi Ogawa.
    • Organizer
      64th ASH Annual Meeting and Exposition ニューオリンズ 米国
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Predisposition and progression of myelodysplastic syndromes2020

    • Author(s)
      Hideki Makishima
    • Organizer
      JSH 2020 JSH-ASH Joint Symposium
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] Clinical Impacts of Germline DDX41 Mutations on Myeloid Neoplasms2020

    • Author(s)
      Hideki Makishima et al.
    • Organizer
      62nd ASH Annual Meeting and Exposition
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Combined Landscape of Gene Mutations and Copy Number Alterations in Clonal Hematopoiesis: Analysis in 10,612 Japanese Individuals2020

    • Author(s)
      Ryunosuke Saiki, Hideki Makishima et al.
    • Organizer
      62nd ASH Annual Meeting and Exposition
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Prognostic Relevance of Genetic Abnormalities in Blastic Transformation of Chronic Myeloid Leukemia2020

    • Author(s)
      Yotaro Ochi, Hideki Makishima et al.
    • Organizer
      62nd ASH Annual Meeting and Exposition
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Functional Characterization of Compound DDX41 Germline and Somatic R525H Mutations in the Development of Myeloid Malignancies2020

    • Author(s)
      Ayana Kon, Hideki Makishima et al.
    • Organizer
      62nd ASH Annual Meeting and Exposition
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Distinct Pathogenesis of Clonal Hematopoiesis Revealed By Single Cell RNA Sequencing Integrated with Highly Sensitive Genotyping Method2020

    • Author(s)
      Masahiro Marshall Nakagawa, Hideki Makishima et al.
    • Organizer
      62nd ASH Annual Meeting and Exposition
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Genotype-Phenotype Relationships and Therapeutic Targets in Acute Erythroid Leukemia2020

    • Author(s)
      June Takeda, Hideki Makishima et al.
    • Organizer
      62nd ASH Annual Meeting and Exposition
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Analysis of Clonal Evolution of AML Using Simultaneous Single-Cell DNA/RNA Analysis2020

    • Author(s)
      Ryosaku Inagaki, Hideki Makishima et al.
    • Organizer
      62nd ASH Annual Meeting and Exposition
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research
  • [Remarks] コヒーシン遺伝子変異による白血病発症の機序を解明 -染色体の3次元構造の異常が発がんに-

    • URL

      https://www.kyoto-u.ac.jp/ja/research-news/2020-04-08-1

    • Related Report
      2020 Annual Research Report

URL: 

Published: 2019-04-18   Modified: 2025-01-30  

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