研究業績

原著論文

  • Tanaka A, Nishimura K, Saika W, Kon A, Koike Y, Tatsumi H, Takeda J, Nomura M, Zang W, Nakayama M, Matsuda M, Yamazaki H, Fukumoto M, Ito H, Hayashi Y, Kitamura T, Kawamoto H, Takaori-Kondo A, Koseki H, Ogawa S, Inoue D. SETBP1 is dispensable for normal and malignant hematopoiesis. Leukemia 2023 Sep;37(9):1802-1811. doi: 10.1038/s41375-023-01970-5
  • Makishima H, Saiki R, Nannya Y, Korotev SC, Gurnari C, Takeda J, Momozawa Y, Best S, Krishnamurthy P, Yoshizato T, Atsuta Y, Shiozawa Y, Iijima-Yamashita Y, Yoshida K, Shiraishi Y, Nagata Y, Kakiuchi N, Onizuka M, Chiba K, Tanaka H, Kon A, Ochi Y, Nakagawa MM, Okuda R, Mori T, Yoda A, Itonaga H, Miyazaki Y, Sanada M, Ishikawa T, Chiba S, Tsurumi H, Kasahara S, Müller-Tidow C, Takaori-Kondo A, Ohyashiki K, Kiguchi T, Matsuda F, Jansen JH, Polprasert C, Blombery P, Kamatani Y, Miyano S, Malcovati L, Haferlach T, Kubo M, Cazzola M, Kulasekararaj AG, Godley LA, Maciejewski JP, Ogawa S. Germ line DDX41 mutations define a unique subtype of myeloid neoplasms. Blood 2023 Feb 2;141(5):534-549. doi: 10.1182/blood.2022018221
  • Takeda J, Yoshida K, Nakagawa MM, Nannya Y, Yoda A, Saiki R, Ochi Y, Zhao L, Okuda R, Qi X, Mori T, Kon A, Chiba K, Tanaka H, Shiraishi Y, Kuo MC, Kerr CM, Nagata Y, Morishita D, Hiramoto N, Hangaishi A, Nakazawa H, Ishiyama K, Miyano S, Chiba S, Miyazaki Y, Kitano T, Usuki K, Sezaki N, Tsurumi H, Miyawaki S, Maciejewski JP, Ishikawa T, Ohyashiki K, Ganser A, Heuser M, Thol F, Shih LY, Takaori-Kondo A, Makishima H, Ogawa S. Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid Leukemia. Blood Cancer Discovery 2022 Sep 6;3(5):410-427. doi: 10.1158/2643-3230.BCD-21-0192
  • Yamamoto K, Goyama S, Asada S, Fujino T, Yonezawa T, Sato N, Takeda R, Tsuchiya A, Fukuyama T, Tanaka Y, Yokoyama A, Toya H, Kon A, Nannya Y, Onoguchi-Mizutani R, Nakagawa S, Hirose T, Ogawa S, Akimitsu N, Kitamura T.  A histone modifier, ASXL1, interacts with NONO and is involved in paraspeckle formation in hematopoietic cells. Cell Report 2021 Aug;36(8):109576. doi: 10.1016/j.celrep.2021.109576
  • Ochi Y, Kon A, Sakata T, Nakagawa MM, Nakazawa N, Kakuta M, Kataoka K, Koseki H, Nakayama M, Morishita D, Tsuruyama T, Saiki R, Yoda A, Okuda R, Yoshizato T, Yoshida K, Shiozawa Y, Nannya Y, Kotani S, Kogure Y, Kakiuchi N, Nishimura T, Makishima H, Malcovati L, Yokoyama A, Takeuchi K, Sugihara E, Sato TA, Sanada M, Takaori-Kondo A, Cazzola M, Kengaku M, Miyano S, Shirahige K, Suzuki HI, Ogawa S. Combined Cohesin-RUNX1 Deficiency Synergistically Perturbs Chromatin Looping and Causes Myelodysplastic Syndromes. Cancer Discovery 10(6):836-853, 2020. doi: 10.1158/2159-8290.CD-19-0982
  • Kakiuchi N, Yoshida K, Uchino M, Kihara T, Akaki K, Inoue Y, Kawada K, Nagayama S, Yokoyama A, Yamamoto S, Matsuura M, Horimatsu T, Hirano T, Goto N, Takeuchi Y, Ochi Y, Shiozawa Y, Kogure Y, Watatani Y, Fujii Y, Kim SK, Kon A, Kataoka K, Yoshizato T, Nakagawa MM, Yoda A, Nanya Y, Makishima H, Shiraishi Y, Chiba K, Tanaka H, Sanada M, Sugihara E, Sato TA, Maruyama T, Miyoshi H, Taketo MM, Oishi J, Inagaki R, Ueda Y, Okamoto S, Okajima H, Sakai Y, Sakurai T, Haga H, Hirota S, Ikeuchi H, Nakase H, Marusawa H, Chiba T, Takeuchi O, Miyano S, Seno H, Ogawa S. Frequent mutations that converge on the NFKBIZ pathway in ulcerative colitis. Nature 577 (7789):260-265, 2020. doi: 10.1038/s41586-019-1856-1
  • Masaki S, Ikeda S, Hata A, Shiozawa Y, Kon A, Ogawa S, Suzuki K, Hakuno F, Takahashi SI, Kataoka N.  Myelodysplastic Syndrome-Associated SRSF2 Mutations Cause Splicing Changes by Altering Binding Motif Sequences. Front Genet . 2019 Apr 16;10:338. doi: 10.3389/fgene.2019.00338
  • Kotani S, Yoda A, Kon A (co-first), 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.  Molecular pathogenesis of disease progression in MLL-rearranged AML. Leukemia 2019 Mar;33(3):612-624. doi: 10.1038/s41375-018-0253-3
  • Kon A, Yamazaki S, Nannya Y, Kataoka K, Ota Y, Nakagawa MM, Yoshida K, Shiozawa Y, Morita M, Yoshizato T, Sanada M, Nakayama M, Koseki H, Nakauchi H, Ogawa S.  Physiological Srsf2 P95H expression causes impaired hematopoietic stem cell functions and aberrant RNA splicing in mice. Blood 2018 Feb 8;131(6):621-635. doi: 10.1182/blood-2017-01-762393
  • Sakai H, Hosono N, Nakazawa H, Przychodzen B, Polprasert C, Carraway HE, Sekeres MA, Radivoyevitch T, Yoshida K, Sanada M, Yoshizato T, Kataoka K, Nakagawa MM, Ueno H, Nannya Y, Kon A, Shiozawa Y, Takeda J, Shiraishi Y, Chiba K, Miyano S, Singh J, Padgett RA, Ogawa S, Maciejewski JP, Makishima H. A novel genetic and morphologic phenotype of ARID2-mediated myelodysplasia. Leukemia 2017 Nov 3. doi: 10.1038/leu.2017.319
  • Seki M, Kimura S, Isobe T, Yoshida K, Ueno H, Nakajima-Takagi Y, Wang C, Lin L, Kon A, Suzuki H, Shiozawa Y, Kataoka K, Fujii Y, Shiraishi Y, Chiba K, Tanaka H, Shimamura T, Masuda K, Kawamoto H, Ohki K, Kato M, Arakawa Y, Koh K, Hanada R, Moritake H, Akiyama M, Kobayashi R, Deguchi T, Hashii Y, Imamura T, Sato A, Kiyokawa N, Oka A, Hayashi Y, Takagi M, Manabe A, Ohara A, Horibe K, Sanada M, Iwama A, Mano H, Miyano S, Ogawa S, Takita J.  Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia. Nature Genetics 2017 Aug;49(8):1274-1281. doi: 10.1038/ng.3900
  • Mori T, Nagata Y, Makishima H, Sanada M, Shiozawa Y, Kon A, Yoshizato T, Sato-Otsubo A, Kataoka K, Shiraishi Y, Chiba K, Tanaka H, Ishiyama K, Miyawaki S, Mori H, Nakamaki T, Kihara R, Kiyoi H, Koeffler HP, Shih LY, Miyano S, Naoe T, Haferlach C, Kern W, Haferlach T, Ogawa S, Yoshida K.  Somatic PHF6 mutations in 1760 cases with various myeloid neoplasms. Leukemia 2016 Nov;30(11):2270-2273. doi: 10.1038/leu.2016.212
  • Nagata Y, Kontani K, Enami T, Kataoka K, Ishii R, Totoki Y, Kataoka TR Hirata M, Aoki K, Nakano K, Kitanaka A, Sakata-Yanagimoto M, Egami S, Shiraishi Y, Chiba K, Tanaka H, Shiozawa Y, Yoshizato T, Suzuki H, Kon A, Yoshida K, Sato Y, Sato-Otsubo A, Sanada M, Munakata W, Nakamura H, Hama N, Miyano S, Nureki O, Shibata T, Haga H, Shimoda K, Katada T, Chiba S, Watanabe T, Ogawa S.  Variegated RHOA mutations in adult T-cell leukemia/lymphoma. Blood 2016 Feb 4;127(5):596-604. doi: 10.1182/blood-2015-06-644948
  • Huang D, Nagata Y, Grossmann V, Radivoyevitch T, Okuno Y, Nagae G, Hosono N, Schnittger S, Sanada M, Przychodzen B, Kon A, Polprasert C, Shen W, Clemente MJ, Phillips JG, Alpermann T, Yoshida K, Nadarajah N, Sekeres MA, Oakley K, Nguyen N, Shiraishi Y, Shiozawa Y, Chiba K, Tanaka H, Koeffler HP, Klein HU, Dugas M, Aburatani H, Miyano S, Haferlach C, Kern W, Haferlach T, Du Y, Ogawa S, Makishima H. BRCC3 mutations in myeloid neoplasms. Haematologica 2015 Aug;100(8):1051-7. doi: 10.3324/haematol.2014.111989
  • Yoshizato T, Dumitriu B, Hosokawa K, Makishima H, Yoshida K, Townsley D, Sato-Otsubo A, Sato Y, Liu D, Suzuki H, Wu CO, Shiraishi Y, Clemente MJ, Kataoka K, Shiozawa Y, Okuno Y, Chiba K, Tanaka H, Nagata Y, Katagiri T, Kon A, Sanada M, Scheinberg P, Miyano S, Maciejewski JP, Nakao S, Young NS, Ogawa S.  Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia. N Engl J Med. 2015 Jul 2;373(1):35-47. doi: 10.1056/NEJMoa1414799
  • Yamamoto H, Uchida N, Matsuno N, Kon A, Nishida A, Ota H, Ikebe T, Nakano N, Ishiwata K, Araoka H, Takagi S, Tsuji M, Asano-Mori Y, Yamamoto G, Izutsu K, Masuoka K, Wake A, Yoneyama A, Makino S, Taniguchi S. I.v. BU/fludarabine plus melphalan or TBI in unrelated cord blood transplantation for high-risk hematological diseases. Bone Marrow Transplant. 2015 Apr;50(4):607-9. doi: 10.1038/bmt.2014.316
  • Sato Y, Maekawa S, Ishii R, Sanada M, Morikawa T, Shiraishi Y, Yoshida K, Nagata Y, Sato-Otsubo A, Yoshizato T, Suzuki H, Shiozawa Y, Kataoka K, Kon A, Aoki K, Chiba K, Tanaka H, Kume H, Miyano S, Fukayama M, Nureki O, Homma Y, Ogawa S.  Recurrent somatic mutations underlie corticotropin-independent Cushing’s syndrome. Science2014 May 23;344(6186):917-20. doi: 10.1126/science.1252328
  • Haferlach T, Nagata Y, Grossmann V, Okuno Y, Bacher U, Nagae G, Schnittger S, Sanada M, Kon A, Alpermann T, Yoshida K, Roller A, Nadarajah N, Shiraishi Y, Shiozawa Y, Chiba K, Tanaka H, Koeffler HP, Klein HU, Dugas M, Aburatani H, Kohlmann A, Miyano S, Haferlach C, Kern W, Ogawa S.  Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 2014 Feb;28(2):241-7. doi: 10.1038/leu.2013.336
  • Yoshida K, Toki T, Okuno Y, Kanezaki R, Shiraishi Y, Sato-Otsubo A, Sanada M, Park MJ, Terui K, Suzuki H, Kon A, Nagata Y, Sato Y, Wang R, Shiba N, Chiba K, Tanaka H, Hama A, Muramatsu H, Hasegawa D, Nakamura K, Kanegane H, Tsukamoto K, Adachi S, Kawakami K, Kato K, Nishimura R, Izraeli S, Hayashi Y, Miyano S, Kojima S, Ito E, Ogawa S.  The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nature Genetics 2013 Nov;45(11):1293-9. doi: 10.1038/ng.2759
  • Kon A, Shih LY, Minamino M, Sanada M, Shiraishi Y, Nagata Y, Yoshida K, Okuno Y, Bando M, Nakato R, Ishikawa S, Sato-Otsubo A, Nagae G, Nishimoto A, Haferlach C, Nowak D, Sato Y, Alpermann T, Nagasaki M, Shimamura T, Tanaka H, Chiba K, Yamamoto R, Yamaguchi T, Otsu M, Obara N, Sakata-Yanagimoto M, Nakamaki T, Ishiyama K, Nolte F, Hofmann WK, Miyawaki S, Chiba S, Mori H, Nakauchi H, Koeffler HP, Aburatani H, Haferlach T, Shirahige K, Miyano S, Ogawa S.  Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nature Genetics 2013 Oct;45(10):1232-7. doi: 10.1038/ng.2731
  • Sakaguchi H, Okuno Y, Muramatsu H, Yoshida K, Shiraishi Y, Takahashi M, Kon A, Sanada M, Chiba K, Tanaka H, Makishima H, Wang X, Xu Y, Doisaki S, Hama A, Nakanishi K, Takahashi Y, Yoshida N, Maciejewski JP, Miyano S, Ogawa S, Kojima S.  Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. Nature Genetics 2013 Aug;45(8):937-41. doi: 10.1038/ng.2698
  • Sato Y, Yoshizato T, Shiraishi Y, Maekawa S, Okuno Y, Kamura T, Shimamura T, Sato-Otsubo A, Nagae G, Suzuki H, Nagata Y, Yoshida K, Kon A, Suzuki Y, Chiba K, Tanaka H, Niida A, Fujimoto A, Tsunoda T, Morikawa T, Maeda D, Kume H, Sugano S, Fukayama M, Aburatani H, Sanada M, Miyano S, Homma Y, Ogawa S.  Integrated molecular analysis of clear-cell renal cell carcinoma. Nature Genetics 2013 Aug;45(8):860-7. doi: 10.1038/ng.2699
  • Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R, Sato Y, Sato-Otsubo A, Kon A, Nagasaki M, Chalkidis G, Suzuki Y, Shiosaka M, Kawahata R, Yamaguchi T, Otsu M, Obara N, Sakata-Yanagimoto M, Ishiyama K, Mori H, Nolte F, Hofmann WK, Miyawaki S, Sugano S, Haferlach C, Koeffler HP, Shih LY,Haferlach T, Chiba S, Nakauchi H, Miyano S, Ogawa S.  Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011 Sep 11;478(7367):64-9. doi: 10.1038/nature10496

総論

  • 昆 彩奈, 造血器腫瘍に頻発するスプライシング因子の遺伝子変異 (Splicing factor mutations in hematological malignancies) 実験医学(羊土社) 2023年8月号41(13):2082-2087 doi: 10.18958/7309-00001-0000537-00
  • 昆 彩奈, 骨髄異形成症候群と慢性炎症 (The role of inflammation in the pathogenesis of MDS) 別冊BIO Clinica (北隆館), 2022年10月31日刊行
  • 昆 彩奈, 血液疾患におけるBCOR遺伝子変異の意義 (BCOR gene mutations in hematologic diseases), 月刊血液内科(科学評論社), 2022;85(3):384-389.
  • 昆 彩奈, MDSにおけるゲノム解析研究の進歩 (Recent advances of genomics of myelodysplastic syndromes), 月刊血液内科(科学評論社), 2022;84(1):65-71.
  • 昆 彩奈, 骨髄系腫瘍のクローン進化 (Clonal evolution of myeloid malignancies.),  臨床血液(日本血液学会), 2020;61(9):1120-1129.
  • 昆 彩奈, 骨髄異形成症候群のクローン進化 (Clonal Evolution of Myelodysplastic Syndromes.), 臨床血液(日本血液学会), 2020;61(4):358-367.
  • 昆 彩奈, スプライシング異常と腫瘍化 (RNA mis-splicing in cancer), 腫瘍内科(科学評論社), 2017:19(4):441-446
  • 昆 彩奈, ここまで進んだMDSのゲノム解析, Hematology AGORA (毘沙門堂) 2013年秋号

東京大学医科学研究所 先端医療研究センター

血液・腫瘍生物学分野

〒108-8639 東京都港区白金台4-6-1

Division of Hematology and Tumor Biology

The Institute of Medical Science, The University of Tokyo

4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan

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