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JAK2 V617F突变阳性原发性血小板增多症转化为JAK2 V617F突变阴性急性髓系白血病一例报告并文献复习 被引量：4

Essential thrombocythemia with JAK2 V617F mutation transformed into acute myeloid leukemia without JAK2 V617F mutation： case report and literature review
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摘要 原发性血小板增多症（ET）是一种少见的获得性慢性骨髓增殖性肿瘤（MPN）.研究发现,40％～60％的ET患者存在JAK2 V617F基因突变[1-3].ET以血小板持续增高为特征,临床上主要表现为出血和血栓症状.部分ET患者进展为真性红细胞增多症（PV）及骨髓纤维化（MF）,但仅有0.6％～6.1％的患者发生白血病转化[4].现报告1例JAK2 V617F突变阳性ET转化为JAK2 V617F突变阴性急性髓系白血病（AML）患者资料并复习相关文献,对ET发生白血病转化的机制、预后进行探讨.
作者 禹文君 陈丽娟 李建勇 朱华渊
机构地区 南京医科大学第一附属医院、江苏省人民医院血液科
出处 《中华血液学杂志》 CAS CSCD 北大核心 2014年第12期1122-1123,共2页 Chinese Journal of Hematology
基金 国家自然科学青年基金（81400119）
关键词 原发性血小板增多症 急性髓系白血病 V617F 白血病转化 JAK2 基因突变 文献复习 阳性
分类号 R733.7 [医药卫生—肿瘤]
  • 相关文献

参考文献18

  • 1Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders [J], Lancet, 2005, 365(9464):1054-1061.
  • 2Lippert E, Boissinot M, Kralovics R, et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polyeythemia vera [J]. Blood, 2006, 108(6):1865-1867.
  • 3费海荣,张日,陈苏宁,潘金兰,岑建农,薛永权.骨髓增殖性疾病137例患者JAK2基因突变的研究[J].中华内科杂志,2007,46(4):271-273. 被引量：15
  • 4Andersson PO, Ridell B, Wadenvik H, et al. Leukemic transformation of essential thrombocythemia without previouscytoreductive treatment [ J ]. Ann Hematol, 2000,79( 1 ) :40-42.
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二级参考文献9

  • 1Furitsu T, Tsujimura T, Tono T, et al.Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of ckit product. J Clin Invest, 1993,92 : 1736-1744.
  • 2Kralovics R, Passamonti F, Buser AS, et al. A gainoof-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med,2005,352 : 1779-1790.
  • 3Vainehenker W, Constantinescu SN. A unique activating mutation in JAK2 (V617F) is at the origin of polycythemia vera and allows a new classification of myeloproliferative diseases. Hematology Am Soc Hematol Educ Program,2005:195-200.
  • 4Strehl S, Konig M,Mann G, et al. Multiplex reverse transeriptase-polymerase chain reaction screening in childhood acute myeloblastic leukemia. Blood, 2001,97:805-808.
  • 5Campbell PJ, Scott LM, Baxter E J, et al. Methods for the detection of the JAK2V617F mutation in human myeloproliferative disorders. Methods Mol Med,2006:253-264.
  • 6Cools J, DeAngelo D J, Gotlib J, et al. A lyrosine kinase created by fusion of the PDGFRA and FIPI LI genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med, 2003,348 : 1201-1214.
  • 7Baxter E J, Scott LM, Campbell PJ, el al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.Lancet, 2005,365:1054-1061.
  • 8James C, Ugn V, Le Couedie JP, el al. A unique elonal JAK2 mutation leading to constitutive signalling causes polyeythaemia vera. Nature, 2005,434 : 1144-1148.
  • 9Levine R, 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, 2005,7 : 387-397.

共引文献14

同被引文献37

  • 1陈况,黄细莲,钱申贤.原发性血小板增多症转变为急性髓系白血病一例[J].中华内科杂志,2006,45(8):700-700. 被引量：6
  • 2陆米则,李建勇,段丽敏,潘金兰,仇海荣,沈云峰,薛永权.原发性血小板增多症的细胞遗传学特征[J].实用临床医药杂志,2006,10(5):25-27. 被引量：3
  • 3ANDERSSON PO, RIDELL B, WADENVIK H, et al. Leukemic transformation of essential thrombocythemia without previous cytoreductive treatment[J]. Ann Hematol, 2000, 79 (l) : 40-42.
  • 4BENCH AJ, NACHEVA EP, CHAMPION KM, et al. Molecular genetics cytogenetics of myeloproliferative disorders[J]. Baillieres Clin Haematol, 1998, 11(4). 819-848.
  • 5Report on essential thrombocythemia[J]. Cancer Genet Cytogenet, 1981, 4 (2): 138-142.
  • 6PANANI AD. Cytogenetic and molecular aspects of Philadelphia negative chronic myeloproliferative disorders: clinical implications[J]. Cancer Lett, 2007, 255 (1) : 12-25.
  • 7SESSAREGO M, DEFFERRARI R, DEJANA AM, et al. Cytogenetic analysis in essentialthrombocythemia at diagnosis and at transformation. A 12-year study[J]. Cancer Genet Cytogenet, 1989, 43 (1) : 57-65.
  • 8GANGAT N, TEFFERI A, THANARAJASINGAM G, et al. Cytogenetic abnormalities in essential thrombocythemia: prevalence and prognostic significance[J]. Eur J Haematol, 2009, 83 ( 1 ) : 17-21.
  • 9JAMES C, UGO V, LE COUEDIC JP, et al. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera[J]. Nature, 2005, 434 (7037) : 1144-1148.
  • 10LEVINE RL, WADLEIGtt M, COOLS J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasis with myelofibrosis[J]. Cancer Cell, 2005, 7 (4) 387-397.

引证文献4

二级引证文献8

中华血液学杂志
2014年 第12期

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