Somatic mosaicism of RAS pathway gene mutations in pediatric myeloid malignancies
Project/Area Number |
24791054
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Pediatrics
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Research Institution | Nagoya University |
Principal Investigator |
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Project Period (FY) |
2012-04-01 – 2015-03-31
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Project Status |
Completed (Fiscal Year 2014)
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Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2013: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
|
Keywords | 若年性骨髄単球性白血病 / RAS / 体細胞モザイク / RAS / NRAS / ディープシークエンス |
Outline of Final Research Achievements |
Juvenile myelomonocytic leukemia (JMML) is an aggressive myeloid neoplasm of early childhood characterized by the excessive proliferation of myelomonocytic cells. Somatic mutations in PTPN11, NRAS, KRAS, NF1, or CBL, which induce deregulation of the RAS signaling pathway, are responsible for the pathogenesis of JMML. We screened mutational status of JMML patients, and reported 2 patients with somatic mosaicism of oncogenic NRAS mutation (Doisaki S, et al., Blood 2012). In total, we could identified 6 patients of JMML with somatic mosaicism of RAS pathway genes.
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Report
(4 results)
Research Products
(43 results)
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[Journal Article] Aldehyde dehydrogenase-2 polymorphism contributes to the progression of bone marrow failure in children with idiopathic aplastic anaemia.2015
Author(s)
Kawashima N, Narita A, Wang X, Xu Y, Sakaguchi H, Doisaki S, Muramatsu H, Hama A, Nakanishi K, Takahashi Y, Kojima S.
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Journal Title
Br J Haematol.
Volume: 168
Pages: 460-463
DOI
Related Report
Peer Reviewed
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[Journal Article] First-line treatment for severe aplastic anemia in children: bone marrow transplantation from a matched family donor versus immunosuppressive therapy.2014
Author(s)
Yoshida N, Kobayashi R, Yabe H, Kosaka Y, Yagasaki H, Watanabe K, Kudo K, Morimoto A, Ohga S, Muramatsu H, Takahashi Y, Kato K, Suzuki R, Ohara A, Kojima S.
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Journal Title
Haematologica
Volume: 99
Pages: 1784-1791
DOI
Related Report
Peer Reviewed
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[Journal Article] Peripheral blood lymphocyte telomere length as a predictor of response to immunosuppressive therapy in childhood aplastic anemia.2014
Author(s)
Sakaguchi H, Nishio N, Hama A, Kawashima N, Wang X, Narita A, Doisaki S, Xu Y, Muramatsu H, Yoshida N, Takahashi Y, Kudo K, Moritake H, Nakamura K, Kobayashi R, Ito E, Yabe H, Ohga S, Ohara A, Kojima S; Japan Childhood Aplastic Anemia Study Group.
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Journal Title
Haematologica.
Volume: 99
Pages: 1312-1316
DOI
Related Report
Peer Reviewed
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[Journal Article] RUNX1 mutation associated with clonal evolution in relapsed pediatric acute myeloid leukemia with t(16;21)(p11;q22).2014
Author(s)
Ismael O, Shimada A, Elmahdi S, Elshazley M, Muramatsu H, Hama A, Takahashi Y, Yamada M, Yamashita Y, Horide K, Kojima S
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Journal Title
Int J Hematol.
Volume: 99
Pages: 169-174
DOI
Related Report
Peer Reviewed
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[Journal Article] Immunosuppressive therapy with horse anti-thymocyte globulin and cyclosporine as treatment for fulminant aplastic anemia in children.2014
Author(s)
Yagasaki H, Shichino H, Ohara A, Kobayashi R, Yabe H, Ohga S, Hamamoto K, Ohtsuka Y, Shimada H, Inoue M, Muramatsu H, Takahashi Y, Kojima S.
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Journal Title
Ann Hematol.
Volume: 93
Pages: 747-752
DOI
Related Report
Peer Reviewed
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[Journal Article] Reduced intensity conditioning in allogeneic stem cell transplantation for AML with Down syndrome.2014
Author(s)
Muramatsu H, Sakaguchi H, Taga T, Tabuchi K, Adachi S, Inoue M, Kitoh T, Suminoe A, Yabe H, Azuma E, Shioda Y, Ogawa A, Kinoshita A, Kigasawa H, Osugi Y, Koike K, Kawa K, Kato K, Atsuta Y, Kudo K.
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Journal Title
Pediatr Blood Cancer
Volume: 61
Pages: 925-927
DOI
Related Report
Peer Reviewed
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[Journal Article] Long-term outcome after immunosuppressive therapy with horse or rabbit antithymocyte globulin and cyclosporine for severe aplastic anemia in children.2014
Author(s)
Jeong DC, Chung NG, Cho B, Zou Y, Ruan M, Takahashi Y, Muramatsu H, Ohara A, Kosaka Y, Yang W, Kim HK, Zhu X, Kojima S.
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Journal Title
Haematologica.
Volume: 99
Pages: 664-671
DOI
Related Report
Peer Reviewed
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[Journal Article] Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia.2013
Author(s)
Yoshimi A, Kamachi Y, Imai K, Watanabe N, Nakadate H, Kanazawa T, Ozono S, Kobayashi R, Yoshida M, Kobayashi C, Hama A, Muramatsu H, Sasahara Y, Jakob M, Morio T, Ehl S, Manabe A, Niemeyer C, Kojima S.
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Journal Title
Pediatric blood & cancer
Volume: 60
Pages: 836-841
DOI
Related Report
Peer Reviewed
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[Journal Article] The landscape of somatic mutations in Down syndrome-related myeloid disorders.2013
Author(s)
Yoshida K, Toki T, Okuno Y, 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.
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Journal Title
Nature genetics
Volume: 45
Pages: 1293-1299
DOI
Related Report
Peer Reviewed
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[Journal Article] Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.2013
Author(s)
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.
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Journal Title
Nature genetics
Volume: 45
Pages: 937-941
DOI
Related Report
Peer Reviewed
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[Journal Article] Somatic SETBP1 mutations in myeloid malignancies.2013
Author(s)
Makishima H, Yoshida K, Muramatsu H, Sakaguchi H, Paquette RL, McDevitt MA, Kojima S, Saunthararajah Y, Miyano S, Shih LY, Du Y, Ogawa S, Maciejewski JP.
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Journal Title
Nature genetics
Volume: 45
Pages: 942-946
DOI
Related Report
Peer Reviewed
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[Journal Article] Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia.2013
Author(s)
Kar SA, Jankowska A, Makishima H, Visconte V, Jerez A, Sugimoto Y, Muramatsu H, Traina F, Afable M, Guinta K, Tiu RV, Przychodzen B, Sakaguchi H, Kojima S, Sekeres MA, List AF, McDevitt MA, Maciejewski JP.
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Journal Title
Haematologica
Volume: 98
Pages: 107-113
DOI
Related Report
Peer Reviewed
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[Presentation] Diagnostic Efficacy of Whole-Exome Sequencing in 250 patients with Congenital Bone Marrow Failure2014
Author(s)
Muramatsu H, Okuno Y, Yoshida K, Doisaki S, Hama A, Wang X, Narita A, Kawashima N, Xu Y, Sakaguchi H, Takahashi Y, Sanada M, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S
Organizer
56th ASH Annual Meeting and Exposition
Place of Presentation
San Francisco, USA
Year and Date
2014-12-08 – 2014-12-08
Related Report
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[Presentation] Mutational analysis of RRAS in Japanese juvenile myelomonocytic leukemia patinet2014
Author(s)
Wang X, Nishikawa E, Muramatsu H, Okuno Y, Sekiya Y, Kawashima N, Xu Y, Narita A, Doisaki S, Hama A, Takahashi Y, Kojima S
Organizer
第56回日本小児血液・がん学会学術集会
Place of Presentation
岡山県岡山市( 岡山コンベンションセンター)
Year and Date
2014-11-28 – 2014-11-28
Related Report
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[Presentation] Somatic Mosaicism of RAS Pathway Gene Mutations in Juvenile Myelomonocytic Leukemia2013
Author(s)
Xinan Wang, Hideki Muramatsu, Hirotoshi Sakaguchi, Yinyan Xu, Atsushi Narita, Sayoko Doisaki, Nozomu Kawashima, Olfat Ismael, Koji Nakanishi, Asahito Hama, Yoshiyuki Takahashi, Seiji Kojima
Organizer
第55回日本小児血液学会
Place of Presentation
ヒルトン福岡シーホーク、福岡市
Year and Date
20131129-20131201
Related Report
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