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Volumn 3, Issue 7, 2006, Pages 1140-1151

MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia

Author keywords

[No Author keywords available]

Indexed keywords

DNA; ERYTHROPOIETIN RECEPTOR; GRANULOCYTE COLONY STIMULATING FACTOR; JANUS KINASE 2; MEMBRANE PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN KINASE B; STAT3 PROTEIN; STAT5 PROTEIN; THROMBOPOIETIN RECEPTOR; CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR; CYTOKINE; CYTOKINE RECEPTOR; FIP1L1 PDGFRA FUSION PROTEIN, HUMAN; FIP1L1-PDGFRA FUSION PROTEIN, HUMAN; HYBRID PROTEIN; JANUS KINASE; ONCOPROTEIN; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PROTEIN KINASE INHIBITOR; STAT PROTEIN;

EID: 33746437130     PISSN: 15491277     EISSN: 15491676     Source Type: Journal    
DOI: 10.1371/journal.pmed.0030270     Document Type: Article
Times cited : (1184)

References (36)
  • 1
    • 0001639195 scopus 로고
    • Some speculations on the myeloproliferative syndromes
    • Dameshek W (1951) Some speculations on the myeloproliferative syndromes. Blood 6: 372-375.
    • (1951) Blood , vol.6 , pp. 372-375
    • Dameshek, W.1
  • 2
    • 20244369569 scopus 로고    scopus 로고
    • Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis
    • Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, et al. (2005) Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7: 387-397.
    • (2005) Cancer Cell , vol.7 , pp. 387-397
    • Levine, R.L.1    Wadleigh, M.2    Cools, J.3    Ebert, B.L.4    Wernig, G.5
  • 3
    • 21344467318 scopus 로고    scopus 로고
    • Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders
    • Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, et al. (2005) Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 106: 2162-2168.
    • (2005) Blood , vol.106 , pp. 2162-2168
    • Jones, A.V.1    Kreil, S.2    Zoi, K.3    Waghorn, K.4    Curtis, C.5
  • 4
    • 17844383458 scopus 로고    scopus 로고
    • A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
    • James C, Ugo V, Le Couedic JP, StaERK J, Delhommeau F, et al. (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434: 1144-1148.
    • (2005) Nature , vol.434 , pp. 1144-1148
    • James, C.1    Ugo, V.2    Le Couedic, J.P.3    Staerk, J.4    Delhommeau, F.5
  • 5
    • 20144363192 scopus 로고    scopus 로고
    • Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
    • Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, et al. (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365: 1054-1061.
    • (2005) Lancet , vol.365 , pp. 1054-1061
    • Baxter, E.J.1    Scott, L.M.2    Campbell, P.J.3    East, C.4    Fourouclas, N.5
  • 6
    • 17644424955 scopus 로고    scopus 로고
    • A gain-of-function mutation of JAK2 in myeloproliferative disorders
    • Kralovics R, Passamonti F, Buser AS, Teo S, Tiedt R, et al. (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352: 1779-1790.
    • (2005) N Engl J Med , vol.352 , pp. 1779-1790
    • Kralovics, R.1    Passamonti, F.2    Buser, A.S.3    Teo, S.4    Tiedt, R.5
  • 7
    • 33645400695 scopus 로고    scopus 로고
    • X-inactivation based clonality analysis and quantitative JAK2V617F assessment reveals a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F negative et and MMM patients with clonal hematopoiesis
    • Levine RL, Belisle C, Wadleigh M, Zahrieh D, Lee S, et al. (2006) X-inactivation based clonality analysis and quantitative JAK2V617F assessment reveals a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F negative ET and MMM patients with clonal hematopoiesis. Blood 107: 4139-41.
    • (2006) Blood , vol.107 , pp. 4139-4141
    • Levine, R.L.1    Belisle, C.2    Wadleigh, M.3    Zahrieh, D.4    Lee, S.5
  • 8
    • 33344471678 scopus 로고    scopus 로고
    • V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis
    • Campbell PJ, Griesshammer M, Dohner K, Dohner H, Kusec R, et al. (2005) V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. Blood 107: 2098-2100.
    • (2005) Blood , vol.107 , pp. 2098-2100
    • Campbell, P.J.1    Griesshammer, M.2    Dohner, K.3    Dohner, H.4    Kusec, R.5
  • 9
    • 20744460045 scopus 로고    scopus 로고
    • Identification of an Acquired JAK2 Mutation in Polycythemia Vera
    • Zhao R, Xing S, Li Z, Fu X, Li Q, et al. (2005) Identification of an Acquired JAK2 Mutation in Polycythemia Vera. J Biol Chem 280: 22788-22792.
    • (2005) J Biol Chem , vol.280 , pp. 22788-22792
    • Zhao, R.1    Xing, S.2    Li, Z.3    Fu, X.4    Li, Q.5
  • 10
    • 30044437118 scopus 로고    scopus 로고
    • Expression of a homodimeric type I cytokine receptor is required for JAK2V617F-mediated transformation
    • U S A
    • Lu X, Levine R, Tong W, Wernig G, Pikman Y, et al. (2005) Expression of a homodimeric type I cytokine receptor is required for JAK2V617F-mediated transformation. Proc Natl Acad Sci U S A 102: 18962-18967.
    • (2005) Proc Natl Acad Sci , vol.102 , pp. 18962-18967
    • Lu, X.1    Levine, R.2    Tong, W.3    Wernig, G.4    Pikman, Y.5
  • 11
    • 33744490974 scopus 로고    scopus 로고
    • Expression of JAK2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model
    • Wernig G, Mercher T, Okabe R, Levine RL, Lee BH, et al. (2006) Expression of JAK2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood 107: 4274-4281.
    • (2006) Blood , vol.107 , pp. 4274-4281
    • Wernig, G.1    Mercher, T.2    Okabe, R.3    Levine, R.L.4    Lee, B.H.5
  • 12
    • 27144466017 scopus 로고    scopus 로고
    • The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders
    • Scott LM, Campbell PJ, Baxter EJ, Todd T, Stephens P, et al. (2005) The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders. Blood 106:2920-2921.
    • (2005) Blood , vol.106 , pp. 2920-2921
    • Scott, L.M.1    Campbell, P.J.2    Baxter, E.J.3    Todd, T.4    Stephens, P.5
  • 13
    • 0032913316 scopus 로고    scopus 로고
    • Autonomous megakaryocyte growth in essential thrombocythemia and idiopathic myelofibrosis is not related to a c-mpl mutation or to an autocrine stimulation by Mpl-L
    • Taksin AL, Couedic JP, Dusanter-Fourt I, Masse A, Giraudier S, et al. (1999) Autonomous megakaryocyte growth in essential thrombocythemia and idiopathic myelofibrosis is not related to a c-mpl mutation or to an autocrine stimulation by Mpl-L. Blood 93: 125-139.
    • (1999) Blood , vol.93 , pp. 125-139
    • Taksin, A.L.1    Couedic, J.P.2    Dusanter-Fourt, I.3    Masse, A.4    Giraudier, S.5
  • 14
    • 0030021792 scopus 로고    scopus 로고
    • Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies
    • Le Couedic JP, Mitjavila MT, Villeval JL, Feger F, Gobert S, et al. (1996) Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. Blood 87: 1502-1511.
    • (1996) Blood , vol.87 , pp. 1502-1511
    • Le Couedic, J.P.1    Mitjavila, M.T.2    Villeval, J.L.3    Feger, F.4    Gobert, S.5
  • 15
    • 0028034396 scopus 로고
    • Molecular analysis of erythropoietin receptor system in patients with polycythaemia vera
    • Hess G, Rose P, Gamm H, Papadileris S, Huber C, et al. (1994) Molecular analysis of erythropoietin receptor system in patients with polycythaemia vera. Br J Haematol 88: 794-802.
    • (1994) Br J Haematol , vol.88 , pp. 794-802
    • Hess, G.1    Rose, P.2    Gamm, H.3    Papadileris, S.4    Huber, C.5
  • 16
    • 0344987881 scopus 로고    scopus 로고
    • A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome
    • Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, et al. (2003) A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med 348: 1201-1214.
    • (2003) N Engl J Med , vol.348 , pp. 1201-1214
    • Cools, J.1    DeAngelo, D.J.2    Gotlib, J.3    Stover, E.H.4    Legare, R.D.5
  • 17
    • 0036093475 scopus 로고    scopus 로고
    • FLT3 internal tandem duplication mutations associated with human acute myeloid leukemias induce myeloproliferative disease in a murine bone marrow transplant model
    • Kelly LM, Liu Q, Kutok JL, Williams IR, Boulton CL, et al. (2002) FLT3 internal tandem duplication mutations associated with human acute myeloid leukemias induce myeloproliferative disease in a murine bone marrow transplant model. Blood 99: 310-318.
    • (2002) Blood , vol.99 , pp. 310-318
    • Kelly, L.M.1    Liu, Q.2    Kutok, J.L.3    Williams, I.R.4    Boulton, C.L.5
  • 18
    • 27144551665 scopus 로고    scopus 로고
    • The small molecule tyrosine kinase inhibitor AMN107 inhibits TEL-PDGFRbeta and FIP1L1-PDGFRalpha in vitro and in vivo
    • Stover EH, Chen J, Lee BH, Cools J, McDowell E, et al. (2005) The small molecule tyrosine kinase inhibitor AMN107 inhibits TEL-PDGFRbeta and FIP1L1-PDGFRalpha in vitro and in vivo. Blood 106: 3206-3213.
    • (2005) Blood , vol.106 , pp. 3206-3213
    • Stover, E.H.1    Chen, J.2    Lee, B.H.3    Cools, J.4    McDowell, E.5
  • 19
    • 22144447520 scopus 로고    scopus 로고
    • Loss of Runx1 perturbs adult hematopoiesis and is associated with a myeloproliferative phenotype
    • Growney JD, Shigematsu H, Li Z, Lee BH, Adelsperger J, et al. (2005) Loss of Runx1 perturbs adult hematopoiesis and is associated with a myeloproliferative phenotype. Blood 106: 494-504.
    • (2005) Blood , vol.106 , pp. 494-504
    • Growney, J.D.1    Shigematsu, H.2    Li, Z.3    Lee, B.H.4    Adelsperger, J.5
  • 20
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap Project
    • (2003) The International HapMap Project. Nature 426: 789-796.
    • (2003) Nature , vol.426 , pp. 789-796
  • 21
    • 0037156334 scopus 로고    scopus 로고
    • Photochemical preparation of a pyridone containing tetracycle: A Jak protein kinase inhibitor
    • Thompson JE, Cubbon RM, Cummings RT, Wicker LS, Frankshun R, et al. (2002) Photochemical preparation of a pyridone containing tetracycle: A Jak protein kinase inhibitor. Bioorg Med Chem Lett 12: 1219-1223.
    • (2002) Bioorg Med Chem Lett , vol.12 , pp. 1219-1223
    • Thompson, J.E.1    Cubbon, R.M.2    Cummings, R.T.3    Wicker, L.S.4    Frankshun, R.5
  • 22
    • 2542502506 scopus 로고    scopus 로고
    • Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin
    • Ding J, Komatsu H, Wakita A, Kato-Uranishi M, Ito M, et al. (2004) Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. Blood 103: 4198-4200.
    • (2004) Blood , vol.103 , pp. 4198-4200
    • Ding, J.1    Komatsu, H.2    Wakita, A.3    Kato-Uranishi, M.4    Ito, M.5
  • 23
    • 0031975482 scopus 로고    scopus 로고
    • An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia
    • Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC (1998) An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet 18: 49-52.
    • (1998) Nat Genet , vol.18 , pp. 49-52
    • Wiestner, A.1    Schlemper, R.J.2    Van Der Maas, A.P.3    Skoda, R.C.4
  • 24
    • 0036050145 scopus 로고    scopus 로고
    • A novel MPL point mutation resulting in thrombopoietin-independent activation
    • Abe M, Suzuki K, Inagaki O, Sassa S, Shikama H (2002) A novel MPL point mutation resulting in thrombopoietin-independent activation. Leukemia 16: 1500-1506.
    • (2002) Leukemia , vol.16 , pp. 1500-1506
    • Abe, M.1    Suzuki, K.2    Inagaki, O.3    Sassa, S.4    Shikama, H.5
  • 25
    • 33344455687 scopus 로고    scopus 로고
    • An amphipathic motif at the transmembrane-cytoplasmic junction prevents autonomous activation of the thrombopoietin receptor
    • Staerk J, Lacout C, Sato T, Smith SO, Vainchenker W, et al. (2005) An amphipathic motif at the transmembrane-cytoplasmic junction prevents autonomous activation of the thrombopoietin receptor. Blood 107: 1864-1871.
    • (2005) Blood , vol.107 , pp. 1864-1871
    • Staerk, J.1    Lacout, C.2    Sato, T.3    Smith, S.O.4    Vainchenker, W.5
  • 26
    • 30844443469 scopus 로고    scopus 로고
    • Pathogenesis of myelofibrosis with myeloid metaplasia
    • Tefferi A (2005) Pathogenesis of myelofibrosis with myeloid metaplasia. J Clin Oncol 23: 8520-8530.
    • (2005) J Clin Oncol , vol.23 , pp. 8520-8530
    • Tefferi, A.1
  • 27
    • 0034720161 scopus 로고    scopus 로고
    • Myelofibrosis with myeloid metaplasia
    • Tefferi A (2000) Myelofibrosis with myeloid metaplasia. N Engl J Med 342:1255-1265.
    • (2000) N Engl J Med , vol.342 , pp. 1255-1265
    • Tefferi, A.1
  • 28
    • 0033639119 scopus 로고    scopus 로고
    • STAT5 is essential for the myelo- And lymphoproliferative disease induced by TEL/JAK2
    • Schwaller J, Parganas E, Wang D, Cain D, Aster JC, et al. (2000) STAT5 is essential for the myelo- and lymphoproliferative disease induced by TEL/JAK2. Mol Cell 6: 693-704.
    • (2000) Mol Cell , vol.6 , pp. 693-704
    • Schwaller, J.1    Parganas, E.2    Wang, D.3    Cain, D.4    Aster, J.C.5
  • 29
    • 0142119964 scopus 로고    scopus 로고
    • PKC412 overcomes resistance to imatinib in a murine model of FIP1L1-PDGFRalpha-induced myeloproliferative disease
    • Cools J, Stover EH, Boulton CL, Gotlib J, Legare RD, et al. (2003) PKC412 overcomes resistance to imatinib in a murine model of FIP1L1-PDGFRalpha-induced myeloproliferative disease. Cancer Cell 3: 459-469.
    • (2003) Cancer Cell , vol.3 , pp. 459-469
    • Cools, J.1    Stover, E.H.2    Boulton, C.L.3    Gotlib, J.4    Legare, R.D.5
  • 30
    • 0025117392 scopus 로고
    • Induction of chronic myelogenous leukemia in mice by the P210bcr/abl gene of the Philadelphia chromosome
    • Daley GQ, Van Etten RA, Baltimore D (1990) Induction of chronic myelogenous leukemia in mice by the P210bcr/abl gene of the Philadelphia chromosome. Science 247: 824-830.
    • (1990) Science , vol.247 , pp. 824-830
    • Daley, G.Q.1    Van Etten, R.A.2    Baltimore, D.3
  • 31
    • 20344393115 scopus 로고    scopus 로고
    • Transgenic mice overexpressing murine thrombopoietin develop myelofibrosis and osteosclerosis
    • Kakumitsu H, Kamezaki K, Shimoda K, Karube K, Haro T, et al. (2005) Transgenic mice overexpressing murine thrombopoietin develop myelofibrosis and osteosclerosis. Leuk Res 29: 761-769.
    • (2005) Leuk Res , vol.29 , pp. 761-769
    • Kakumitsu, H.1    Kamezaki, K.2    Shimoda, K.3    Karube, K.4    Haro, T.5
  • 32
    • 0030718597 scopus 로고    scopus 로고
    • High thrombopoietin production by hematopoietic cells induces a fatal myeloproliferative syndrome in mice
    • Villeval JL, Cohen-Solal K, Tulliez M, Giraudier S, Guichard J, et al. (1997) High thrombopoietin production by hematopoietic cells induces a fatal myeloproliferative syndrome in mice. Blood 90: 4369-4383.
    • (1997) Blood , vol.90 , pp. 4369-4383
    • Villeval, J.L.1    Cohen-Solal, K.2    Tulliez, M.3    Giraudier, S.4    Guichard, J.5
  • 33
    • 0028843848 scopus 로고
    • Chronic exposure to retroviral vector encoded MGDF (mpl-ligand) induces lineage-specific growth and differentiation of megakaryocytes in mice
    • Yan XQ, Lacey D, Fletcher F, Hartley C, McElroy P, et al. (1995) Chronic exposure to retroviral vector encoded MGDF (mpl-ligand) induces lineage-specific growth and differentiation of megakaryocytes in mice. Blood 86:4025-4033.
    • (1995) Blood , vol.86 , pp. 4025-4033
    • Yan, X.Q.1    Lacey, D.2    Fletcher, F.3    Hartley, C.4    McElroy, P.5
  • 34
    • 0037103206 scopus 로고    scopus 로고
    • Development of myelofibrosis in mice genetically impaired for GATA-1 expression (GATA-1(low) mice)
    • Vannucchi AM, Bianchi L, Cellai C, Paoletti F, Rana RA, et al. (2002) Development of myelofibrosis in mice genetically impaired for GATA-1 expression (GATA-1(low) mice). Blood 100: 1123-1132.
    • (2002) Blood , vol.100 , pp. 1123-1132
    • Vannucchi, A.M.1    Bianchi, L.2    Cellai, C.3    Paoletti, F.4    Rana, R.A.5
  • 35
    • 1442290394 scopus 로고    scopus 로고
    • Low-dose thalidomide ameliorates cytopenias and splenomegaly in myelofibrosis with myeloid metaplasia: A phase II trial
    • Marchetti M, Barosi G, Balestri F, Viarengo G, Gentili S, et al. (2004) Low-dose thalidomide ameliorates cytopenias and splenomegaly in myelofibrosis with myeloid metaplasia: A phase II trial. J Clin Oncol 22: 424-431.
    • (2004) J Clin Oncol , vol.22 , pp. 424-431
    • Marchetti, M.1    Barosi, G.2    Balestri, F.3    Viarengo, G.4    Gentili, S.5


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