慢性中性粒细胞白血病

doi:10.3969/j.issn.1006-7795.2014.05.010

摘要/Abstract

摘要：

目的慢性中性粒细胞性白血病是一种非常罕见的骨髓增生性肿瘤，既往诊断标准无特异性，治疗效果差，预后不良。新近发现 CSF3R和SETBP1 基因突变，为本病的诊断和预后判断提供了特异的敏感的分子生物学标记，同时，也为开辟新的治疗途径奠定了基础。

关键词: 慢性中性粒细胞白血病, 基因突变, 骨髓增生性肿瘤, CSF3R, SETBP1

Abstract:

Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm characterized by a proliferation mainly of mature neutrophils. The previous diagnostic criteria were not specific, the treatment was not effective and prognosis was poor. Recently, mutations in genes CSF3R and SETBP1 were identified which is expected to provide specific molecular markers for diagnosis and judgment of prognosis for CNL. And also, these novel molecular markers will likely facilitate therapeutic decision making, and further characterization of such mutations is anticipated.

Key words: chronic neutrophilic leukemia(CNL), oncogenic mutations, myeloproliferative neoplasm(MPN), CSF3R, SETBP1

中图分类号:

R733.72

吴学宾. 慢性中性粒细胞白血病[J]. 首都医科大学学报, 2014, 35(5): 577-580.

Wu Xuebin. Chronic neutrophilic leukemia[J]. Journal of Capital Medical University, 2014, 35(5): 577-580.

参考文献

[1] Elliott M A, Tefferi A. The molecular genetics of chronic neutrophilic leukaemia: defining a new era in diagnosis and therapy[J]. Curr Opin Hematol,2014, 21(2):148 154.
[2] Vardiman J, Hyjek E. World Health Organization classification, evaluation, and genetics of the myeloproliferative neoplasm variants[J]. Hematology Am Soc Hematol Educ Program,2011:250-256.
[3] Neureiter D,Kemmerling R,Ocker M,et al. Differential diagnostic challenge of chronic neutrophilic leukemia in a patient with prolonged leukocytosis[J]. J Hematopathol,2008, 1(1):23 27
[4] Gotlib J, Maxson J E, George T I, et al. The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment[J]. Blood,2013,122(10):1707-1711.
[5] Bain B J, Vardiman J, Thiele J. WHO classification of tumours of haematopoietic and lymphoid tissue: chronic neutrophilic leukaemia. Swerdlow S, Campo E, Harris NL, editors[R]. Geneva: WHO, 2008:38 39.
[6] Elliott M A. WHO-defined chronic neutrophilic leukemia: a long-term analysis of 12 cases and a critical review of the literature[J]. Leukemia,2005,19(2): 313 317.
[7] Tefferi A, Elliott M A, Pardanani A. Atypical myeloproliferative disorders: diagnosis and management[J]. Mayo Clin Proc, 2006,81(5):553-563.
[8] James C, Ugo V, Casadevall N, et al. A JAK2 mutation in myeloproliferative disorders: pathogenesis and therapeutic and scientific prospects[J]. Trends Mol Med,2005,11(12):546-554.
[9] Campbell L J. Cytogenetics of myeloproliferative neoplasms[J]. Methods Mol Biol,2011,730:89-98.
[10] Vardiman J W, Thiele J, Arber D A, et al. The 2008 revision of theWorld Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes[J]. Blood,2009,114(5):937-951.
[11] Jatiani S S, Baker S J, Silverman L R, et al. Jak/STAT pathways in cytokine signaling and myeloproliferative disorders: approaches for targeted therapies[J]. Genes Cancer,2010, 1(10):979 993.
[12] Kralovics R, Passamonti F, Buser A S, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders[J]. N Engl J Med,2005,352(17):1779 1790.
[13] Jones A V, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders[J]. Blood,2005, 106(6):2162 2168.
[14] Levine R L, Loriaux M, Huntly B J, et al. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia[J]. Blood,2005, 106(10):3377 3379.
[15] Tefferi A, Gilliland G D. Oncogenes in myeloproliferative disorders[J]. Cell Cycle,2007,6(5): 550-566.
[16] Hellmann A. Myeloproliferative syndromes: diagnosis and therapeutic options[J]. Pol Arch Med Wewn,2008,118 (12): 756-760.
[17] Erber W, Reilly J T. Chronic neutrophilic leukemia with plasma cell dyscrasia: friends or relatives? [J].Leukemia Lymphoma, 2014, 55(2): 240 242.
[18] Liongue C, CurtisWard A. Granulocyte colony-stimulating factor receptor mutations in myeloid malignancy[J]. Frontiers Oncol Pedia,2014,4(93):1-7.
[19] Pardanani A, Lasho T L, Laborde R R, et al. CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia[J]. Leukemia,2013,27(9): 1870 1873.
[20] Maxson J E, Gotlib J, Pollyea D A, et al. Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML[J]. N Engl J Med,2013,368(19): 1781 1790.
[21] Makishima H,Yoshida K,Nguyen N, et al. Somatic SETBP1 mutations in myeloid malignancies[J]. Nat Genet,2013, 45(8): 942 946.
[22] Senín A, Arenillas L, Martínez-Avilés L, et al. Molecular characterization of atypical chronic myeloid leukemia and chronic neutrophilic leukemia[J]. Med Clin (Barc), 2014.
[23] Meggendorfer M, Bacher U, Alpermann T, et al. SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations[J]. Leukemia,2013,27(9):1852-1860.
[24] Piazza R, Valletta S, Winkelmann N, et al. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia[J]. Nat Genet,2013, 45(1): 18 24.
[25] Menezes J, Makishima H, Gomez I, et al. CSF3R T618I co-occurs with mutations of splicing and epigenetic genes and with a new PIM3 truncated fusion gene in chronic neutrophilic leukemia[J]. Blood Cancer J,2013,3: e158.
[26] Touw P I, Beekman R. Severe congenital neutropenia and chronic neutrophilic leukemia: an intriguing molecular connection unveiled by oncogenic mutations in CSF3R[J].Haematologica,2013,98(10):1490-1492.
[27] Böhm J, Schaefer HE, Chronic neutrophilic leukaemia: 14 new cases of an uncommon myeloproliferative disease[J]. J Clin Pathol,2002,55(11):862 864.
[28] Hellmann A. Myeloproliferative syndromes: diagnosis and therapeutic options[J]. Pol Arch Med Wewn,2008,118 (12): 756-760.
[29] Fleischman A, Maxson J E, Luty S B, et al. The CSF3R T618I mutation causes a lethal neutrophilic neoplasia in mice that is responsive to therapeutic JAK inhibition[J]. Blood,2013,122(22):3628-3631.
[30] Kako S, Kanda Y, Sato T, et al. Early relapse of JAK2 V617F-positive chronic neutrophilic leukemia with central nervous system infiltration after unrelated bone marrow transplantation[J]. Am J Hematol,2007,82(5):386 390
[31] Goto H, Hara T, Tsurumi H, et al. Chronic neutrophilic leukemia with congenital robertsonian translocation successfully treated with allogeneic bone marrow transplantation in a young man[J]. Inter Med,2009,48: 563-567.
[32] Zhang X Y, Pan J G, Guo J X. Presence of the JAK2 V617F mutation in a patient with chronic neutrophilic leukemia and effective response to interferon Alfa-2b[J]. Acta Haematol,2013,130(1):44 46.
[33] Jain N, Khoury J D, Pemmaraju N, et al. Imatinib therapy in a patient with suspected chronic neutrophilic leukemia and FIP1L1-PDGFRA rearrangement[J]. Blood, 2013,122(19):3387-3388.
[34] Imashuku S, Kudo N, Kubo K, et al. Rituximab for managing acquired hemophilia A in a case of chronic neutrophilic leukemia with the JAK2 kinase V617F mutation[J]. J Blood Med, 2012, 3(7):157 161.