综述

JAK2基因突变在急性髓细胞白血病中的研究进展

展开
  • 中国人民解放军联勤保障部队第九四医院(原兰州军区兰州总医院)全军血液病中心,甘肃 兰州 730050

收稿日期: 2019-06-13

  网络出版日期: 2020-04-25

基金资助

甘肃省自然科学基金(145RJZA151)

本文引用格式

徐娜娜, 吴涛, 寇明坤, 白海 . JAK2基因突变在急性髓细胞白血病中的研究进展[J]. 诊断学理论与实践, 2020 , 19(02) : 195 -198 . DOI: 10.16150/j.1671-2870.2020.02.019

参考文献

[1] Abdel-Wahab O, Manshouri T, Patel J, et al. Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias[J]. Cancer Res, 2010, 70(2):447-452.
[2] Wang S, Yan J, Zhou G, et al. Myeloproliferative neoplasm or reactive process? A rare case of acute myeloid leukemia and transient posttreatment megakaryocytic hyperplasia with JAK-2 mutation[J]. Case Rep Hematol, 2016, 2016:6054017.
[3] Seavey MM, Dobrzanski P. The many faces of Janus kinase[J]. Biochem Pharmacol, 2012, 83(9):1136-1145.
[4] Saharinen P, Vihinen M, Silvennoinen O. Autoinhibition of Jak2 tyrosine kinase is dependent on specific regions in its pseudokinase domain[J]. Mol Biol Cell, 2003, 14(4):1448-1459.
[5] Lee HJ, Daver N, Kantarjian HM, et al. The role of JAK pathway dysregulation in the pathogenesis and treatment of acute myeloid leukemia[J]. Clin Cancer Res, 2013, 19(2):327-335.
[6] Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders[J]. N Engl J Med, 2005, 352(17):1779-1790.
[7] 成志勇, 黄月华, 梁文同, 等. 骨髓增殖性肿瘤中JAK2 V617F突变与Ⅰ型细胞因子受体相关性研究[J]. 中国全科杂志, 2012, 15(9):1019-1022.
[8] 陈秀花, 王宏伟, 覃艳红, 等. JAK2 V617F阴性真性红细胞增多症患者JAK2 exon 12的突变研究[J]. 中华内科杂志, 2010, 49(9):797-798.
[9] Lundberg P, Takizawa H, Kubovcakova L, et al. Myeloproliferative neoplasms can be initiated from a single hematopoietic stem cell expressing JAK2-V617F[J]. J Exp Med, 2014, 211(11):2213-2230.
[10] Medinger M, Skoda R, Gratwohl A, et al. Angiogenesis and vascular endothelial growth factor-/receptor expression in myeloproliferative neoplasms: correlation with clinical parameters and JAK2-V617F mutational status[J]. Br J Haematol, 2009, 146(2):150-157.
[11] Nunes DP, Lima LT, Chauffaille Mde L, et al. CALR mutations screening in wild type JAK2(V617F) and MPL(W515K/L) Brazilian myeloproliferative neoplasm patients[J]. Blood Cells Mol Dis, 2015, 55(3):236-240.
[12] Theocharides A, Boissinot M, Girodon F, et al. Leukemic blasts in transformed JAK2-V617F-positive myeloproli-ferative disorders are frequently negative for the JAK2-V617F mutation[J]. Blood, 2007, 110(1):375-379.
[13] Aynardi J, Manur R, Hess PR, et al. JAK2 V617F-positive acute myeloid leukaemia (AML): a comparison between de novo AML and secondary AML transformed from an underlying myeloproliferative neoplasm. A study from the Bone Marrow Pathology Group[J]. Br J Haematol, 2018, 182(1):78-85.
[14] Scott LM, Rebel VI. JAK2 and genomic instability in the myeloproliferative neoplasms: a case of the chicken or the egg?[J]. Am J Hematol, 2012, 87(11):1028-1036.
[15] Benton CB, Boddu PC, DiNardo CD, et al. Janus kinase 2 variants associated with the transformation of myeloproliferative neoplasms into acute myeloid leukemia[J]. Cancer, 2019, 125(11):1855-1866.
[16] Marty C, Saint-Martin C, Pecquet C, et al. Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors[J]. Blood, 2014, 123(9):1372-1383.
[17] Plo I, Nakatake M, Malivert L, et al. JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative di-sorders[J]. Blood, 2008, 112(4):1402-1412.
[18] 宗香萍, 汤林, 岑建农, 等. 异基因造血干细胞移植治疗原发性血小板增多症转化的急性髓系白血病三例报告并文献复习[J]. 中华血液学杂志, 2017, 38(10):883-886.
[19] Vicente C, Vázquez I, Marcotegui N, et al. JAK2-V617F activating mutation in acute myeloid leukemia: prognostic impact and association with other molecular markers[J]. Leukemia, 2007, 21(11):2386-2390.
[20] 沈益民, 晁红颖, 张日, 等. 80例急性髓性白血病M2型患者JAK2 V617F基因突变的检测及临床意义[J]. 中华肿瘤杂志, 2009, 31(5):366-370.
[21] 禹文君, 陈丽娟, 李建勇, 等. 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[J]. 中华血液学杂志, 2014, 35(12):1122-1123.
[22] Celgene Corporation. INREBIC® (fedratinib) capsules, for oral use: US prescribing information[R/OL]. 2019-08-16[2020-01-13]. http://www.fda.gov/.
[23] Celgene Corporation. U.S. FDA approves INREBIC® (fedratinib) as frst new treatment in nearly a decade for patients with myelofbrosis[R/OL]. 2019-08-16[2020-01-13]. http://ir.celgene.com.
[24] Sun J, Du Y, Zhang X, et al. Discovery and evaluation of Atopaxar hydrobromide, a novel JAK1 and JAK2 inhibitor, selectively induces apoptosis of cancer cells with constitutively activated STAT3[J/OL]. Invest New Drugs, 2019-10-14[2020-01-13]https://www.ncbi.nlm.nih.gov/pubmed/31612426.
[25] Takagi S, Masuoka K, Uchida N, et al. Allogeneic hematopoietic cell transplantation for leukemic transformation preceded by philadelphia chromosome-negative myeloproliferative neoplasms: A nationwide survey by the Adult Acute Myeloid Leukemia Working Group of the Japan Society for Hematopoietic Cell Transplantation[J]. Biol Blood Marrow Transplant, 2016, 22(12):2208-2213.
文章导航

/