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JAK2基因突变的发现改变了骨髓增殖性肿瘤的诊断标准 被引量：3

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摘要 从2005年报道JAK2 V617F突变发生于慢性骨髓增殖性疾病（myeloproliferative disorder，MPD）^[1-3]以来，这个基因突变的发现改变了MPD的分类和诊断。以往MPD包含慢性粒细胞白血病（CML），真性红细胞增多症（PV），原发性血小板增多症（ET），和原发性骨髓纤维化（PMF），慢性中性粒细胞白血病（CNL），
作者 朱平
机构地区 北京大学第一医院
出处 《中华医学杂志》 CAS CSCD 北大核心 2008年第25期1729-1731,共3页 National Medical Journal of China
关键词 慢性骨髓增殖性疾病 基因突变 JAK2 诊断 慢性中性粒细胞白血病 原发性血小板增多症 慢性粒细胞白血病 真性红细胞增多症
分类号 R686 [医药卫生—骨科学]
  • 相关文献

参考文献18

  • 1James C, Ugo V, Le Couedic JP, et al. A unique elonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature, 2005,434 : 1144-1148. 被引量：1
  • 2Zhao R, Xing S, Li Z, et al. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem, 2005, 280:22788- 22792. 被引量：1
  • 3Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet, 2005, 365:1054-1061. 被引量：1
  • 4Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms : The 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia, 2008, 22:4-22. 被引量：1
  • 5朱平.骨髓增殖性疾病JAK2基因突变的临床意义[J].中华医学杂志,2006,86(32):2243-2245. 被引量：14
  • 6Murugesan G, Aboudola S, Szpurka H, et al. Identification of the JAK2 V617F mutation in chronic myeloproliferative disorders using FRET probes and melting curve analysis. Am J Clin Pathol, 2006, 125:625-633. 被引量：1
  • 7Vannucchi AM, Pancrazzi A, Bogani C, et al. A quantitative assay for JAK2 (V617F) mutation in myeloproliferative disorders by ARMS-PCR and capillary electrophoresis. Leukemia, 2006, 20 : 1055-1060. 被引量：1
  • 8McClure R, Mai M, Lasho T. Validation of two clinically useful assays for evaluation of JAK2 V617F mutation in chronic myeloproliferative disorders. Leukemia, 2006,20 : 168-171. 被引量：1
  • 9Lippert E, Bolssinot M, Kralovics R, et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood, 2006,108:1865- 1867. 被引量：1
  • 10Finazzi G, Rambaldi A, Guerini V,et al. Risk of thrombosis in patients with essential thrombocythemia and polycythemla vera according to JAK2 V617F mutation status. Haematologica, 2007, 92:135-136. 被引量：1

二级参考文献21

  • 1James C,Ugo V,Casadevall N,et al.A JAK2 mutation in myeloproliferative disorders:pathogenesis and therapeutic and scientific prospects.Trends Mol Med,2005,11:546-554. 被引量：1
  • 2Goerttler PS,Steimle C,Marz E,et al.The Jak2V617F mutation,PRV-1 overexpression,and EEC formation define a similar cohort of MPD patients.Blood,2005,106:2862 -2864. 被引量：1
  • 3Kralovics R,Passamonti F,Buser AS,et al.A gain-of-function mutation of JAK2 in myeloproliferative disorders.N Engl J Med,2005,352:1779-1790. 被引量：1
  • 4Nelson ME,Steensma DP.JAK2 V617F in myeloid disorders:what do we know now,and where are we headed? Leuk Lymphoma,2006,47:177-194. 被引量：1
  • 5Prchal JT.Polycythemia vera and other primary polycythemias.Curr Opin Hematol,2005,12:112-116. 被引量：1
  • 6Jones AV,Kreil S,Zoi K,et al.Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.Blood,2005,106:2162-2168. 被引量：1
  • 7Goerttler PS,Steimle C.The Jak2V617F mutation,PRV-1 overexpression,and EEC formation define a similar cohort of MPD patients.Blood,2005,106:2862-2864. 被引量：1
  • 8Kralovics 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,2005,106:3374-3376. 被引量：1
  • 9Steensma DP,Dewald GW,Lasho TL,et al.The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical " myeloproliferative disorders and myelodysplastic syndromes.Blood,2005,106:1207-1209. 被引量：1
  • 10Jelinek J,Oki Y,Gharibyan V,et al.JAK2 mutation 1849G ＞T is rare in acute leukemias but can be found in CMML,Philadelphia chromosome-negative CML,and megakaryocytic leukemia.Blood,2005,106:3370-3373. 被引量：1

共引文献13

同被引文献45

  • 1朱平.骨髓增殖性疾病JAK2基因突变的临床意义[J].中华医学杂志,2006,86(32):2243-2245. 被引量：14
  • 2Stamatakos M,Douzinas E,Stefanaki C,et al.Ischemic colitis:surging waves of update.Tohoku J Exp Med,2009,218:83-92. 被引量：1
  • 3Harberer J,Trivedi NN,Kohlwes J,et al.Clinical problem solving.A gut feeling.N Engl J Med,2003,349:73-78. 被引量：1
  • 4Kumar,S,Sarr MG,Kamath PS.Mesenteric venous thrombosis.N Engl J Med,2001,345:1683-1688. 被引量：1
  • 5Tefferi A,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. 被引量：1
  • 6Finazzi G,Barbui T.Evidence and expertise in the management of polycythemia vera and essential thrombocythemia.Leukemia,2008,22:1494-1502. 被引量：1
  • 7Lasho TL, Pardanani A, McClure RF, et al. Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time. Br J Haematol,2006 ; 135 ( 5 ) :683 - 687. 被引量：1
  • 8Wilkins BS, Erber WN, Bareford D, et al. Bone marrow pathology in essential thrombocythemia: interobserver reliability and utility for identifying disease subtypes. Blood, 2008 ; 111 ( 1 ) : 60 - 70. 被引量：1
  • 9Wolf D, Rudzki J, Gastl G. Current treatment concepts of Philadelphia-negative MPN. Curr Cancer Drug Targets, 2011 ; 11 (1) :44 -55. 被引量：1
  • 10Harrison CN, Bareford D, Butt N, et al. Guideline for investigation and management of adults and children presenting with a thrombocytosis. Br J Haematol, 2010 ; 149 ( 3 ) :352 - 375. 被引量：1

引证文献3

二级引证文献9

中华医学杂志
2008年 第25期

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