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伴JAK2 V617F阳性慢性中性粒细胞白血病一例

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摘要 患者男，54岁，因“左上腹包块10余天”入院。10余天前无意发现左上腹包块，伴左上腹坠胀感、乏力、消瘦、多汗，无腹痛及大便性状改变，无黄疸、低热，无出血及骨骼疼痛表现，为进一步诊治收入我科。
作者 肖仕珊 朱红倩 宋军 李斓 郭鹏翔 袁斌
机构地区 贵州省人民医院血液科
出处 《中华内科杂志》 CAS CSCD 北大核心 2012年第4期318-319,共2页 Chinese Journal of Internal Medicine
基金 贵州省科学技术基金项目（黔科合J字[2008]2297号）
关键词 慢性中性粒细胞白血病 V617F JAK2 阳性 上腹包块 大便性状 骨骼疼痛 医院体检
分类号 R733.72 [医药卫生—肿瘤]
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参考文献5

  • 1Tefferi A,Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms:the 2008 World Health Organization criteria and point-of-care diagnostic algorithms[J].Leukemia:Official Journal of the Leukemia Society of America,Leukemia Research Fund,U.K,2008,(1):14-22.doi:10.1038/sj.leu.2404955.
  • 2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
  • 3Lea NC,Lim Z,Westwood NB. Presence of JAK2 V617F tyrosine kinase mutation as a myeloid-lineage-specific mutation in chronic neutrophilic leukaemia[J].Leukemia:Official Journal of the Leukemia Society of America,Leukemia Research Fund,U.K,2006.1324-1326.
  • 4Kako S,Kanda Y,Sato T. Early relapse of JAK2 V617F-positive chronic neutrophilic leukeniia with central nervous system infiltration after unrelated bone marrow transplantation[J].American Journal of Hematology,2007.386-390.
  • 5Goto H,Hara T,Tsurumi H. Chronic neutrophilic leukemia with congenital Robertsonian translocation successfully treated with allogeneic bone marrow transplantation in a young man[J].Internal Medicine,2009.563-567.

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

中华内科杂志
2012年 第4期

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