Identification of a novel JAK2-related fusion gene and elucidation of molecular mechanism in leukemia
Project/Area Number |
22591172
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Pediatrics
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Research Institution | Tokyo Metropolitan Institute of Medical Science |
Principal Investigator |
KAWAMURA Machiko 公益財団法人東京都医学総合研究所, ゲノム医科学研究分野, 研究員 (80450592)
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Co-Investigator(Kenkyū-buntansha) |
TAKI Tomohiko 京都府立医科大学, 大学院医学研究科, 講師 (50322053)
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Co-Investigator(Renkei-kenkyūsha) |
HAYASHI Yasuhide 群馬県衛生環境研究所, 研究企画係, 研究員 (30238133)
TASHIRO Satoshi 広島大学, 原爆放射線医科学研究所, 教授 (20243610)
SAKURABA Hitoshi 明治薬科大学, 臨床遺伝学講座, 教授 (60114493)
|
Project Period (FY) |
2010-04-01 – 2013-03-31
|
Project Status |
Completed (Fiscal Year 2013)
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Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2011: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2010: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
|
Keywords | JAK2遺伝子 / 白血病 / 融合遺伝子 / 染色体転座 / SPAG9遺伝子 |
Outline of Final Research Achievements |
We observed a t(9;17)(p24;q21) translocation in a 14-year old male with B-progenitor acute lymphoblastic leukemia having myeloid antigen who had poor prognosis, and identified a novel SPAG9-JAK2 fusion gene using paired end messenger RNA sequencing (mRNA-seq). Further SNP array and multiple ligation-dependent probe amplification analysis (MLPA) identified the homozygous deletion of CDKN2A and hemizygous deletion of CDKN2B, PAX5, BTG1, and IKZF1. This ALL having both rearrangement of activating tyrosine kinase and genomic lesions affecting lymphoid transcription factors is similar to the Philadelphia chromosome (Ph) /BCR-ABL1 like ALL subgroup. This novel translocation identifies JAK2 gene as a possible therapeutics target in ALL.
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Report
(4 results)
Research Products
(29 results)
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[Journal Article] NUP98-NSD1 related gene expression signature is strongly associated with a poor prognosis in pediatric acute myeloid leukemia: a study of the Japanese Childhood AML Cooperative Study Group Cooperative Study Group2013
Author(s)
Shiba N, Ichikawa H, Taki T, Park M, Jo A, Mitani S, Shimada A, Sotomatsu M, Arakawa H, Tabuchi K, Adachi S, Tawa A, Horibe K, Tsuchida M, Hanada R, Tsukimoto I, Hayashi Y
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Journal Title
Genes Chromosomes Cancer
Volume: 52
Issue: 7
Pages: 683-693
DOI
Related Report
Peer Reviewed
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[Journal Article] WT1 mutation in pediatric patients with acute myeloid leukemia: A study of the Japanese Childhood AML Cooperative Study Group2013
Author(s)
Sano H, Shimada A, Tabuchi K, Taki T, Murata C, Park M, Sotomatsu Tawa A, Kobayashi R, Horibe K, Tsuchida M, Hanada R, Tsukimoto I, Hayashi Y
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Journal Title
Int J Hematol
Volume: 98
Issue: 4
Pages: 437-445
DOI
Related Report
Peer Reviewed
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[Journal Article] DNMT3A mutations are rare in childhood acute myeloid leukaemia, myelodysplastic syndromes and juvenile myelomonocytic leukaemia2012
Author(s)
Shiba N, Taki T, Park MJ, Shimada A, Sotomatsu M, Adachi S, Tawa A, Horibe K, Tsuchida M, Hanada R, Tsukimoto I, Arakawa H, Hayashi Y.
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Journal Title
Br J Haematol
Volume: 156
Issue: 3
Pages: 413-414
DOI
Related Report
Peer Reviewed
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[Journal Article] CBL mutations in infant acute lymphoblastic leukaemia2012
Author(s)
6. Shiba N, Park MJ, Taki T, Takita J, Hiwatari M, Kanazawa T, Sotomatsu M, Ishii E, Arakawa H, Ogawa S, Hayashi Y
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Journal Title
Br J Haematol
Volume: 156
Issue: 5
Pages: 672-674
DOI
Related Report
Peer Reviewed
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[Journal Article] RAS mutations are frequent in FAB type M4 and M5 of acute myeloid leukemia, and related to late relapse : a study of the Japanese Childhood AML Cooperative Study Group2012
Author(s)
Sano H, Shimada A, Taki T, Murata C, Park MJ, Sotomatsu M, Tabuchi K, Tawa A, Kobayashi R, Horibe K, Tsuchida M, Hanada R, Tsukimoto I, Hayashi Y.
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Journal Title
Int J Hematol
Volume: 95
Issue: 5
Pages: 509-515
DOI
NAID
Related Report
Peer Reviewed
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[Journal Article] High WT1 mRNA expression after induction chemotherapy and FLT3-ITD have prognostic impact in pediatric acute myeloid leukemia: a study of the Japanese Childhood AML Cooperative Study Group2012
Author(s)
Shimada A, Taki T, Koga D, Tabuchi K, Tawa A, Hanada R, Tsuchida M, Horibe K, Tsukimoto I, Adachi S, Kojima S, Hayashi Y
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Journal Title
Int J Hematol
Volume: 96
Issue: 4
Pages: 469-476
DOI
NAID
Related Report
Peer Reviewed
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[Journal Article] Establishment of a novel human myeloid leukemia cell line, AMU-AML1, carrying t(12 ; 22)(p13 ; q11) without chimeric MN1-TEL and with high expression of MN12012
Author(s)
Gotou M, Hanamura I, Nagoshi H, Wakabayashi M, Sakamoto N, Tsunekawa N, Horio T, Goto M, Mizuno S, Takahashi M, Suganuma K, Yamamoto H, Hiramatsu A, Watarai M, Shikami M, Imamura A, Mihara H, Taki T, Taniwaki M, Nitta M
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Journal Title
Genes Chromosomes Cancer
Volume: 51
Issue: 1
Pages: 42-53
DOI
Related Report
Peer Reviewed
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[Journal Article] Galectin-3(Gal-3) induced by leukemia microenvironment promotes drug resistance and bone marrow lodgment in chronic myelogenous leukemia2011
Author(s)
Yamamoto-Sugitani M, Kuroda J, Ashihara E, Nagoshi H, Kobayashi T, Matsumoto Y, Sasaki N, Shimura Y, Kiyota M, Nakayama R, Akaji K, Taki T, Uoshima N, Kobayashi Y, Horiike S, Maekawa T, Taniwaki M
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Journal Title
Proc Natl Acad Sci U S A
Volume: 108
Issue: 42
Pages: 17468-17473
DOI
Related Report
Peer Reviewed
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[Journal Article] Down-regulation of CDKN1A in adult T cell leukemia/lymphoma despite overexpression of CDKN1A in HTLV-1-infected cell lines.2010
Author(s)
Watanabe M, Nakahata S, Hamasaki M, Saito Y, Kawano Y, Hidaka T, Yamashita K, Umeki K, Taki T, Taniwaki M, Okayama A, Morishita K.
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Journal Title
J Virol
Volume: 84
Pages: 6966-6977
Related Report
Peer Reviewed
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[Journal Article] Prognostic significance of the BAALC isoform pattern and CEBPA mutationsin pediatric acute myeloid leukemia with normal karyotype : a study by the Japanese Childhood AML Cooperative Study Group.2010
Author(s)
Mizushima Y, Taki T, Shimada A, Yui M, Hiraumi Y, Matsubara H, Watanabe M, Watanabe K, Kamitsuji Y, Hayashi Y, Tsukimoto I, Kobayashi R, Horibe K, Tawa A, Nakahata T, Adachi S.
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Journal Title
Int J Hematol
Volume: 91
Pages: 831-837
Related Report
Peer Reviewed
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