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JAK2基因突变在恶性血液病中的作用

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摘要 近年来,人们在多种恶性血液病中发现了JAK2基因突变(V617F)的存在。JAK2V617F在骨髓增殖性疾病及难治性贫血伴环形铁粒幼细胞伴显著血小板增多中较为多见,在急性髓系白血病的部分亚型中亦有不同的发生率。其致病机制至今尚未完全阐明,推测与突变引起JAK—STAT信号通路的持续性活化,继而导致对多种细胞因子的高敏感性相关。JAK2基因突变的临床意义逐渐展露,其有助于骨髓增殖性疾病的诊断和靶向治疗,并且可能对急性髓系白血病的预后判断及临床治疗产生重要意义。本文就近年来有关,JAK2V617F在多种恶性血液病中的相关研究进展作一综述。
出处 《国际输血及血液学杂志》 CAS 2010年第2期143-146,共4页 International Journal of Blood Transfusion and Hematology
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参考文献25

  • 1James C,Ugo V,Le Couédic JP,et al.A unique clonal JAK2 mutation leading to constitutive signaling causes polycythemia vera.Nature,2005,434(7037):1144-1148.
  • 2Rawlings JS,Rosler KM,Harrison DA.The JAK/STAT signaling pat hway.J Cell Sci,2004,117 (8):1281-1283.
  • 3Baxter EJ,Scott LM,Campbell PJ,et al.Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.Lancet,2005,365 (9464):1054-1061.
  • 4Levine RL,Wadleigh M,Cools J,et al.Activating mutation in the tyrosine kinase JAK2 in polycythemia vera,essential thrombocythemia,and myeloid metaplasia with myelofibrosis.Cancer Cell,2005,744):387-397.
  • 5Kralovics R,Passamonti F,Buser AS,et al.A gain-of-function mutation of JAK2 in myeloproliferative disorders.N Engl J Med,2005,352(17):1779-1790.
  • 6Saharinen P,Vihinen M,Silvennnoinen O.Autoinhibition of Jak2 tyrosine kinase is dependent on specific regions in its pseudokinase domain.Mol Biol Ce11,2003,14(4):1448-1459.
  • 7Schade AE,Wlodarski MW,Maciejewaki JP.Pathophysiology defined by altered signal transduction pathways:the role of JAK-STAT and PI3K signaling in leukemic large granular lymphocytes.Cell Cycle,2006,5(22):2571-2574.
  • 8Nagy ZS,Rui H,Stepkowski SM,et al.A preferential role for STATS,not constitutively active STAT3,in promoting survival of a human lymphoid tumor.J Immunol,2006,177 48):5032-5040.
  • 9Goerttler PS,Kreutz C,Donauer J,et al.Gene expression profiling in polycythaemia vera:overexpresaion of transcription factor NF-E2.Br J Haematol,2005,12941):138-150.
  • 10Kralovics R,Teo SS,Buser AS,et al.Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2.Blood,2005,106(10):3374-3376.

二级参考文献13

  • 1时昊,朱锋,张红,肖爱琴,张志瑢,王克强.急性非淋巴细胞白血病中CD117表达与化疗疗效的关系[J].中国癌症杂志,2006,16(3):165-168. 被引量:4
  • 2Care RS, Valk PJ, Goodeve AC, et al. Incidence and prognosis of c-kit and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias. Br J Haematol, 2003, 121:775-777.
  • 3Thiede C, Steudel C, Mohr B, et al. Analysis of FL33-activating mutation in 979 patients with acute myelogenous leukemia : association with FAB subtypes and identification of a sugroups with poor prognosis. Blood, 2002, 99:4326-4335.
  • 4Meshinehi S, Stirewalt DL, Alonzo TA, et al. Activating mutations of RTK/ras signal transduction pathway in pediatric acute myeloid leukemia. Blood, 2003, 102:1474-1479.
  • 5Wang YY, Zhou GB, Yin T, et al. AML1-ETO and c-kit mutation over-expression in t(8;21) leukemia: Implication in stepwise leukemogenesis and response to Gleevec. Proc Natl Acad Sci U S A, 2005, 102: 1104-1109.
  • 6Paschka P, Marcucci G, Ruppert AS, et al. Adverse prognostic significance of KIT mutations in adult acute myeloid leukemia with inv( 16 ) and t (8;21 ) : a Cancer and Leukemia Group B Study. J Clin Oncol, 2006, 24:3904-3911.
  • 7Cairoli R, Beghini A, Grillo G, et al. Prognostic impact of c-kit mutations in core binding factor leukemias: an Italian retrospective study. Blood, 2006, 107:3463-3468.
  • 8Lee JW, Kim YG, Soung YH, et al. The JAK2 V617F mutation in de novo acute myelogenous leukemias. Oncogene, 2006, 25: 1434-1436.
  • 9Kelly LM, Gilliland DG. Genetics of myeloid leukemias. Annu Rev Genomics Hum Genet, 2002, 3 : 179-198.
  • 10Liang DC, Shih LY, Huang CF, et al. Different cooperating mutation patterns of receptor tyrosine kinase/Ras/JAK2 between de novo AML1-ETO and CBF-MYHll acute myloid leukemia. Blood, 2007, 110 : 3487a.

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