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Volumn 30, Issue 6, 2010, Pages 567-574

JAK2 V617F and exon 12 genetic variations in Korean patients with BCR/ABL1-negative myeloproliferative neoplasms

Author keywords

Exon 12; JAK2; Myeloproliferative neoplasms; Rs56241661; V617F

Indexed keywords

BCR ABL PROTEIN; JANUS KINASE 2;

EID: 78651298035     PISSN: 15986535     EISSN: None     Source Type: Journal    
DOI: 10.3343/kjlm.2010.30.6.567     Document Type: Article
Times cited : (5)

References (33)
  • 1
    • 38349101871 scopus 로고    scopus 로고
    • Classification and diagnosis of myeloproliferative neoplasms: The 2008 World Health Organization criteria and point-of-care diagnostic algorithms
    • Tefferi A and Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 2008;22:14-22.
    • (2008) Leukemia , vol.22 , pp. 14-22
    • Tefferi, A.1    Vardiman, J.W.2
  • 2
    • 0037672877 scopus 로고    scopus 로고
    • Philadelphia chromosome-positive leukemias: From basic mechanisms to molecular therapeutics
    • Kurzrock R, Kantarjian HM, Druker BJ, Talpaz M. Philadelphia chromosome-positive leukemias: from basic mechanisms to molecular therapeutics. Ann Intern Med 2003;138:819-30.
    • (2003) Ann Intern Med , vol.138 , pp. 819-830
    • Kurzrock, R.1    Kantarjian, H.M.2    Druker, B.J.3    Talpaz, M.4
  • 4
    • 33947328520 scopus 로고    scopus 로고
    • Oncogenes in myeloproliferative disorders
    • Tefferi A and Gilliland DG. Oncogenes in myeloproliferative disorders. Cell Cycle 2007;6:550-66.
    • (2007) Cell Cycle , vol.6 , pp. 550-566
    • Tefferi, A.1    Gilliland, D.G.2
  • 7
    • 33846965612 scopus 로고    scopus 로고
    • Diagnostic usefulness of the Janus kinase 2 mutation in non BCR/ABL myeloproliferative disorders
    • Bang SM, Ahn JY, Park J, Yoo SJ, Park SH, Nam EM, et aL Diagnostic usefulness of the Janus kinase 2 mutation in non BCR/ABL myeloproliferative disorders. Korean J Intern Med 2006;21:219-24.
    • (2006) Korean J Intern Med , vol.21 , pp. 219-224
    • Bang, S.M.1    Ahn, J.Y.2    Park, J.3    Yoo, S.J.4    Park, S.H.5    Nam, E.M.6
  • 8
    • 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, Swanton S, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005;365:1054-61.
    • (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    Swanton, S.6
  • 9
    • 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 Q Zhang L et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005;106:2162-8.
    • (2005) Blood , vol.106 , pp. 2162-2168
    • Jones, A.V.1    Kreil, S.2    Zoi, K.3    Waghorn, K.4    Zhang L, C.Q.5
  • 10
    • 77953925295 scopus 로고    scopus 로고
    • The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms
    • Jones AV, Campbell PJ, Beer PA, Schnittger S, Vannucchi AM, Zoi K, et al. The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms. Blood 2010;115:4517-23.
    • (2010) Blood , vol.115 , pp. 4517-4523
    • Jones, A.V.1    Campbell, P.J.2    Beer, P.A.3    Schnittger, S.4    Vannucchi, A.M.5    Zoi, K.6
  • 11
    • 0030742530 scopus 로고    scopus 로고
    • Proposal for revised diagnostic criteria of essential thrombocythemia and polycythemia vera by the Thrombocythemia Vera Study Group
    • Michiels JJ and Juvonen E. Proposal for revised diagnostic criteria of essential thrombocythemia and polycythemia vera by the Thrombocythemia Vera Study Group. Semin Thromb Hemost 1997;23:33947.
    • (1997) Semin Thromb Hemost , vol.23 , pp. 33947
    • Michiels, J.J.1    Juvonen, E.2
  • 12
    • 0033003556 scopus 로고    scopus 로고
    • The Italian consensus conference on diagnostic criteria for myelofibrosis with myeloid metaplasia
    • Barosi G, Ambrosetti A, Finelli Q Grossi A, Leoni P, Liberato NL, et aL The Italian Consensus Conference on Diagnostic Criteria for Myelofibrosis with Myeloid Metaplasia. BrJ Haematol 1999,104:730-7.
    • (1999) BrJ Haematol , vol.104 , pp. 730-737
    • Barosi, G.1    Ambrosetti, A.2    Grossi A, F.Q.3    Leoni, P.4    Liberato, N.L.5
  • 13
    • 0036786901 scopus 로고    scopus 로고
    • The World Health Organization (WHO) classification of the myeloid neoplasms
    • Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002; 100:2292-302.
    • (2002) Blood , vol.100 , pp. 2292-2302
    • Vardiman, J.W.1    Harris, N.L.2    Brunning, R.D.3
  • 14
    • 0036739792 scopus 로고    scopus 로고
    • Differential bone marrow aspirate DNA yields from commercial extraction kits
    • Aplenc R, Orudjev E, Swoyer J, Manke B, Rebbeck T. Differential bone marrow aspirate DNA yields from commercial extraction kits. Leukemia 2002;16:1865-6.
    • (2002) Leukemia , vol.16 , pp. 1865-1866
    • Aplenc, R.1    Orudjev, E.2    Swoyer, J.3    Manke, B.4    Rebbeck, T.5
  • 15
    • 0032577230 scopus 로고    scopus 로고
    • Cloning and characterization of human Jak-2 kinase: High mRNA expression in immune cells and muscle tissue
    • DOI 10.1006/bbrc.1998.8685
    • Saltzman A. Stone M. Franks C. Searfoss G. Munro R. Jaye M. Ivashchenko Y. Cloning and characterization of human Jak-2 kinase: High mRNA expression in immune cells and muscle tissue Biochemical and Biophysical Research Communications 1998 246 3 627-633 DOI 10.1006/bbrc.1998.8685 15. Saltzman A, Stone M, Franks C, Searfoss G, Munro R, Jaye M, et al. doning and characterization of human Jak-2 kinase: high mRNA expression in immune cells and muscle tissue. Biochem Biophys Res Commun 1998;246:627-33. (Pubitemid 28420909)
    • (1998) Biochemical and Biophysical Research Communications , vol.246 , Issue.3 , pp. 627-633
    • Saltzman, A.1    Stone, M.2    Franks, C.3    Searfoss, G.4    Munro, R.5    Jaye, M.6    Ivashchenko, Y.7
  • 16
    • 33644546402 scopus 로고    scopus 로고
    • JAK2 V617F tyrosine kinase mutation in cell lines derived from myeloproliferative disorders
    • Quentmeier H, MacLeod RA, Zaborski M, Drexler HG. JAK2 V617F tyrosine kinase mutation in cell lines derived from myeloproliferative disorders. Leukemia 2006;20:471-6.
    • (2006) Leukemia , vol.20 , pp. 471-476
    • Quentmeier, H.1    MacLeod, R.A.2    Zaborski, M.3    Drexler, H.G.4
  • 17
    • 0030272581 scopus 로고    scopus 로고
    • Roles of the JAK STAT system in signal transduction via cytokine receptors
    • DOI 10.1016/S0959-437X(96)80088-8
    • Watanabe S. Arai K.-I. Roles of the JAK STAT system in signal transduction via cytokine receptors Current Opinion in Genetics and Development 1996 6 5 587-596 DOI 10.1016/S0959-437X(96)80088-8 17. Watanabe S and Arai K. Roles of the JAK-STAT system in signal transduction via cytokine receptors. Curr Opin Genet Dev 1996;6: 587-96. (Pubitemid 26372155)
    • (1996) Current Opinion in Genetics and Development , vol.6 , Issue.5 , pp. 587-596
    • Watanabe, S.1    Arai, K.-I.2
  • 18
    • 0034012330 scopus 로고    scopus 로고
    • Regulation of the Jak2 tyrosine kinase by its pseudokinase domain
    • DOI 10.1128/MCB.20.10.3387-3395.2000
    • Saharinen P. Takaluoma K. Silvennoinen O. Regulation of the Jak2 tyrosine kinase by its pseudokinase domain Molecular and Cellular Biology 2000 20 10 3387-3395 DOI 10.1128/MCB.20.10.3387-3395.2000 18. Saharinen P, Takaluoma K, Silvennoinen O. Regulation of the Jak2 tyrosine kinase by its pseudokinase domain. Mol Cell Biol 2000;20: 3387-95. (Pubitemid 30243884)
    • (2000) Molecular and Cellular Biology , vol.20 , Issue.10 , pp. 3387-3395
    • Saharinen, P.1    Takaluoma, K.2    Silvennoinen, O.3
  • 19
    • 37049013530 scopus 로고    scopus 로고
    • The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels
    • Percy MJ, Scott LM, Erber WN, Harrison CN, Reilly JT, Jones FG, et al. The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels. Haematologica 2007;92:1607-14.
    • (2007) Haematologica , vol.92 , pp. 1607-1614
    • Percy, M.J.1    Scott, L.M.2    Erber, W.N.3    Harrison, C.N.4    Reilly, J.T.5    Jones, F.G.6
  • 20
    • 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, Huntly BJ, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005;7:387-97.
    • (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    Huntly, B.J.6
  • 21
    • 34249876924 scopus 로고    scopus 로고
    • Correlations of JAK2-V617F mutation with clinical and laboratory findings in patients with myeloproliferative disorders
    • Speletas M, Katodritou E, Daiou C, Mandala E, Papadakis E, Kioumi A, et al. Correlations of JAK2-V617F mutation with clinical and laboratory findings in patients with myeloproliferative disorders. Leuk Res 2007;31:1053-62.
    • (2007) Leuk Res , vol.31 , pp. 1053-1062
    • Speletas, M.1    Katodritou, E.2    Daiou, C.3    Mandala, E.4    Papadakis, E.5    Kioumi, A.6
  • 22
    • 34548240698 scopus 로고    scopus 로고
    • Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders
    • Levine RL, Pardanani A, Tefferi A, Gilliland DG. Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders. Nat Rev Cancer 2007;7:673-83.
    • (2007) Nat Rev Cancer , vol.7 , pp. 673-683
    • Levine, R.L.1    Pardanani, A.2    Tefferi, A.3    Gilliland, D.G.4
  • 23
    • 33750090421 scopus 로고    scopus 로고
    • Frequent detection of the JAK2 V617F mutation in bone marrow core biopsy specimens from chronic myeloproliferative disorders using the TaqMan polymerase chain reaction single nucleotide polymorphism genotyping assay: A retrospective study with pathologic correlations
    • Bousquet M, Le Guellec S, Quelen C, Rigal-Huguet F, Delsol G, Brousset P. Frequent detection of the JAK2 V617F mutation in bone marrow core biopsy specimens from chronic myeloproliferative disorders using the TaqMan polymerase chain reaction single nucleotide polymorphism genotyping assay: a retrospective study with pathologic correlations. Hum Pathol 2006;37:1458-64.
    • (2006) Hum Pathol , vol.37 , pp. 1458-1464
    • Bousquet, M.1    Le Guellec, S.2    Quelen, C.3    Rigal-Huguet, F.4    Delsol, G.5    Brousset, P.6
  • 24
    • 33745990527 scopus 로고    scopus 로고
    • Detection of the activating JAK2 V617F mutation in paraffinembedded trephine bone marrow biopsies of patients with chronic myeoproliferative diseases
    • Horn T, Kremer M, Dechow T, Pfeifer WM, Geist B, Perker M, et al. Detection of the activating JAK2 V617F mutation in paraffinembedded trephine bone marrow biopsies of patients with chronic myeoproliferative diseases. J MoI Diagn 2006;8:299-304.
    • (2006) J MoI Diagn , vol.8 , pp. 299-304
    • Horn, T.1    Kremer, M.2    Dechow, T.3    Pfeifer, W.M.4    Geist, B.5    Perker, M.6
  • 25
    • 33746026365 scopus 로고    scopus 로고
    • Detection of the JAK2 V617F mutation by LightCycler PCR and probe dissociation analysis
    • Lay M, Mariappan R, Gotlib J, Dietz L, Sebastian S, Schrijver I, et al. Detection of the JAK2 V617F mutation by LightCycler PCR and probe dissociation analysis. J Mol Diagn 2006;8:330-4.
    • (2006) J Mol Diagn , vol.8 , pp. 330-334
    • Lay, M.1    Mariappan, R.2    Gotlib, J.3    Dietz, L.4    Schrijver I, S.S.5
  • 26
    • 37049039725 scopus 로고    scopus 로고
    • JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation in primary myelofibrosis
    • Barosi G, Bergamaschi G, Marchetti M, Vannucchi AM, GuglielmelIi P, Antonioli E, et al. JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation in primary myelofibrosis. Blood 2007;110:4030-6.
    • (2007) Blood , vol.110 , pp. 4030-4036
    • Barosi, G.1    Bergamaschi, G.2    Marchetti, M.3    Vannucchi, A.M.4    Guglielmelii, P.5    Antonioli, E.6
  • 27
    • 34250654512 scopus 로고    scopus 로고
    • A simple, rapid, and sensitive method for the detection of the JAK2 V617F mutation
    • Tan AY, Westerman DA, Dobrovic A. A simple, rapid, and sensitive method for the detection of the JAK2 V617F mutation. Am J Clin Pathol 2007;127:977-81.
    • (2007) Am J Clin Pathol , vol.127 , pp. 977-981
    • Tan, A.Y.1    Westerman, D.A.2    Dobrovic, A.3
  • 28
    • 38949160429 scopus 로고    scopus 로고
    • Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders
    • Pietra D, Li S, Brisci A, Passamonti F, Rumi E, Theocharides A, et al. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood 2008;111:1686-9.
    • (2008) Blood , vol.111 , pp. 1686-1689
    • Pietra, D.1    Li, S.2    Brisci, A.3    Passamonti, F.4    Rumi, E.5    Theocharides, A.6
  • 29
    • 62949227518 scopus 로고    scopus 로고
    • Detection of JAK2 exon 12 mutations in 15 patients with JAK2 V617F negative polycythemia vera
    • Schnittger S, Bacher U, Haferlach C, Geer T, Muller P, Mittermuller J, et al. Detection of JAK2 exon 12 mutations in 15 patients with JAK2 V617F negative polycythemia vera. Haematologica 2009;94:414-8.
    • (2009) Haematologica , vol.94 , pp. 414-418
    • Schnittger, S.1    Bacher, U.2    Haferlach, C.3    Geer, T.4    Muller, P.5    Mittermuller, J.6
  • 31
    • 42349112583 scopus 로고    scopus 로고
    • Two novel JAK2 exon 12 mutations in J/LK2V617F-negative polycythaemia vera patients
    • Butcher CM, Hahn U, To LB, Gecz J, Wilkins EJ, Scott HS, et al. Two novel JAK2 exon 12 mutations in J/LK2V617F-negative polycythaemia vera patients. Leukemia 2008;22:870-3.
    • (2008) Leukemia , vol.22 , pp. 870-873
    • Butcher, C.M.1    Hahn, U.2    To, L.B.3    Gecz, J.4    Wilkins, E.J.5    Scott, H.S.6
  • 32
    • 34547118479 scopus 로고    scopus 로고
    • Updated on Mar 2010
    • NCBI Single Nucleotide Polymorphism, http://www.ncbi.nlm.nih.gov/ projects/SNP/snp-ref.cgi?rs=56241661 (Updated on Mar 2010).
    • NCBI Single Nucleotide Polymorphism
  • 33
    • 74249121458 scopus 로고    scopus 로고
    • The JAK2 46/1 haplotype confers susceptibility to essential thrombocythemia regardless of JAK2V617F mutational status-clinical correlates in a study of 226 consecutive patients
    • Pardanani A, Lasho TL, Finke CM, Gangat N, Wolanskyj AP, Hanson CA, et al. The JAK2 46/1 haplotype confers susceptibility to essential thrombocythemia regardless of JAK2V617F mutational status-clinical correlates in a study of 226 consecutive patients. Leukemia 2010;24:1104.
    • (2010) Leukemia , vol.24 , pp. 1104
    • Pardanani, A.1    Lasho, T.L.2    Finke, C.M.3    Gangat, N.4    Wolanskyj, A.P.5    Hanson, C.A.6


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