中性粒细胞异常增殖相关的BCR/ABL~-慢性白血病的临床特征
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摘要
目的:探讨与中性粒细胞异常增殖相关的BCR/ABL-慢性白血病的临床特征。方法:报告3例不同类型与中性粒细胞异常增殖相关的BCR/ABL-慢性白血病并结合文献进行讨论。结果:3例均为老年男性,表现为以中性粒细胞为主的白细胞异常增多、BCR/ABL融合基因阴性。例1诊断为慢性中性粒细胞白血病(CNL),脾大,外周血以成熟中性粒细胞增高为特征,胞浆内中毒颗粒易见,无明显病态造血,中性粒细胞碱性磷酸酶(NAP)染色强阳性,骨髓粒系增生明显活跃。例2诊断为不典型慢性髓细胞白血病(a CML),血涂片示不成熟粒细胞比例增高伴粒系病态造血,尤其核染色质异常浓聚更为明显,骨髓象表现为髓系增生和病态造血,原始细胞轻度增多。例3诊断为慢性粒单核细胞白血病(CMML),外周血成熟单核细胞数量和比例异常偏高,粒系病态如核分叶过多、环状核和假性Pelger-Huet畸形等易见,骨髓髓系增生明显活跃伴病态造血,无原始细胞增多。结论:中性粒细胞异常增殖相关的BCR/ABL-慢性白血病较为少见,易于误诊,细胞形态学特征是诊断BCR/ABL-慢性白血病的基础。临床表现、多种实验室检查结果尤其是分子生物学等有助于正确诊断这类疾病。
Objective: To explore the clinical features of BCR/ABL-chronic leukemia associated with abnormal neutrophilia.Methods: Three cases of different kinds of BCR / ABL-chronic leukemia associated with abnormal neutrophilia were reported and the related articles were reviewed.Results: Three patients were male elder and characterized by sustained neutrophilic leukocytosis,which were absence of BCR / ABL fusion transcripts.Case 1 was diagnosed as chronic neutrophilic leukemia(CNL) with splenomegaly.The characters of mature neutrophilic leukocytosis with no dysplastic features,toxic granulation of the neutrophils and strong positive of NAP-stain were noted in the peripheral blood(PB).Bone marrow(BM) biopsy revealed hypercellular marrow due marked granulocytic hyperplasia.Atypical chronic myeloid leukemia(aCML) was made in case 2 by the following characteristics: PB smear showing left-shifted myeloid hyperplasia with marked granulocytic dysplasia including peculiar abnormal chromatin clumping,BM evaluation demonstrating myeloid hyperplasia and dysplasia with slightly blasts increase.We diagnosed case 3 as chronic myelomonocytic leukemia(CMML) whose presentation showed mature monocytosis with granulocytic dysplasia such as peculiar abnormal nuclear hypersegmentation,ring nucleus,and pseudo Pelger-Huet abnormity in the peripheral blood.BM biopsy revealed a hypercellularity with markedly increased myeloid and dysplasia without an expansion of blasts.Conclusion: CNL,a CML and CMML were considered extremely rare and may lead to be misdiagnosed.Making diagnosis is mainly based on the cellular characters of morphology for the BCR / ABL-chronic leukemia.The various combinations of clinical manifestation and multiple laboratory data including molecular genetics may likely contribute to right diagnosis.
Objective: To explore the clinical features of BCR/ABL-chronic leukemia associated with abnormal neutrophilia.Methods: Three cases of different kinds of BCR / ABL-chronic leukemia associated with abnormal neutrophilia were reported and the related articles were reviewed.Results: Three patients were male elder and characterized by sustained neutrophilic leukocytosis,which were absence of BCR / ABL fusion transcripts.Case 1 was diagnosed as chronic neutrophilic leukemia(CNL) with splenomegaly.The characters of mature neutrophilic leukocytosis with no dysplastic features,toxic granulation of the neutrophils and strong positive of NAP-stain were noted in the peripheral blood(PB).Bone marrow(BM) biopsy revealed hypercellular marrow due marked granulocytic hyperplasia.Atypical chronic myeloid leukemia(aCML) was made in case 2 by the following characteristics: PB smear showing left-shifted myeloid hyperplasia with marked granulocytic dysplasia including peculiar abnormal chromatin clumping,BM evaluation demonstrating myeloid hyperplasia and dysplasia with slightly blasts increase.We diagnosed case 3 as chronic myelomonocytic leukemia(CMML) whose presentation showed mature monocytosis with granulocytic dysplasia such as peculiar abnormal nuclear hypersegmentation,ring nucleus,and pseudo Pelger-Huet abnormity in the peripheral blood.BM biopsy revealed a hypercellularity with markedly increased myeloid and dysplasia without an expansion of blasts.Conclusion: CNL,a CML and CMML were considered extremely rare and may lead to be misdiagnosed.Making diagnosis is mainly based on the cellular characters of morphology for the BCR / ABL-chronic leukemia.The various combinations of clinical manifestation and multiple laboratory data including molecular genetics may likely contribute to right diagnosis.
引文
[1]Li B,Gale RP,Xiao Z.Molecular genetics of chronic neutrophilic leukemia,chronic myelomonocytic leukemia and atypical chronic myeloid leukemia[J].J Hemat Oncol,2014,7:93-99.
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[3]Vardiman J,Hyjek E.World Health Organization Classification,evaluation,and genetics of the myeloproliferative neoplasm variants[J].Hematology Am Soc Hematol Educ Program,2011,2011:250-256.
[4]Arber DA,Orazi A,Hasserjian R,et al.The 2016 revision to the World Health Organization Classification of myeloid neoplasms and acute leukemia[J].Blood,2016,127(20):2391-2405.
[5]Cui Y,Li B,Gale RP,et al.CSF3R,SETBP1 and CALR mutations in chronic neutrophilic leukemia[J].J Hematol Oncol,2014,7:77-79.
[6]Elliott MA,Tefferi A.Chronic neutrophilic leukemia 2016:Update on diagnosis,molecular genetics,prognosis,and management[J].Am J Hematol,2016,91(3):342-349.
[7]Wang A,Hasserjian RP,Fox PS,et al.Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic/myeloproliferative neoplasms[J].Blood,2014,123(17):2645-2651.
[8]Gotlib J,Maxson JE,George TI,et al.The new genetics of chronic neutrophilic leukemia and atypical CML:Implications for diagnosis and treatment[J].Blood,2013,122(10):1707-1711.
[9]Fend F,Horn T,Koch I,et al.Atypical chronic myeloid leukemia as defined in the WHO classification is a JAK2 V617F negative neoplasm[J].Leuk Res,2008,32(12):1931-1935.
[10]Mughal TI,Cross NCP,Padron E,et al.An International MDS/MPN Working Group's perspective and recommendations on molecular pathogenesis,diagnosis and clinical characterization of myelodysplastic/myeloproliferative neoplasms[J].Haematologica,2015,100(9):1117-1130.
[11]Rollison DE,Howlader N,Smith MT,et al.Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States,2001-2004,using data from the NAACCR and SEER programs[J].Blood,2008,112(1):45-52.
[12]Patnaik MM,Tefferi A.Chronic myelomonocytic leukemia:Focus on clinical practice[J].Mayo Clin Proc,2016,91(2):259-272.
[13]Patnaik MM,Teffer A.Chronic myelomonocytic leukemia:2016update on diagnosis,risk stratification,and management[J].Am J Hemat,2016,91(6):362-642.
[2]Elliott MA,Tefferi A.The molecular genetics of chronic neutrophilic leukemia:Defining a new era in diagnosis and therapy[J].Curr Opin Hematol,2014,21(2):148-154.
[3]Vardiman J,Hyjek E.World Health Organization Classification,evaluation,and genetics of the myeloproliferative neoplasm variants[J].Hematology Am Soc Hematol Educ Program,2011,2011:250-256.
[4]Arber DA,Orazi A,Hasserjian R,et al.The 2016 revision to the World Health Organization Classification of myeloid neoplasms and acute leukemia[J].Blood,2016,127(20):2391-2405.
[5]Cui Y,Li B,Gale RP,et al.CSF3R,SETBP1 and CALR mutations in chronic neutrophilic leukemia[J].J Hematol Oncol,2014,7:77-79.
[6]Elliott MA,Tefferi A.Chronic neutrophilic leukemia 2016:Update on diagnosis,molecular genetics,prognosis,and management[J].Am J Hematol,2016,91(3):342-349.
[7]Wang A,Hasserjian RP,Fox PS,et al.Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic/myeloproliferative neoplasms[J].Blood,2014,123(17):2645-2651.
[8]Gotlib J,Maxson JE,George TI,et al.The new genetics of chronic neutrophilic leukemia and atypical CML:Implications for diagnosis and treatment[J].Blood,2013,122(10):1707-1711.
[9]Fend F,Horn T,Koch I,et al.Atypical chronic myeloid leukemia as defined in the WHO classification is a JAK2 V617F negative neoplasm[J].Leuk Res,2008,32(12):1931-1935.
[10]Mughal TI,Cross NCP,Padron E,et al.An International MDS/MPN Working Group's perspective and recommendations on molecular pathogenesis,diagnosis and clinical characterization of myelodysplastic/myeloproliferative neoplasms[J].Haematologica,2015,100(9):1117-1130.
[11]Rollison DE,Howlader N,Smith MT,et al.Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States,2001-2004,using data from the NAACCR and SEER programs[J].Blood,2008,112(1):45-52.
[12]Patnaik MM,Tefferi A.Chronic myelomonocytic leukemia:Focus on clinical practice[J].Mayo Clin Proc,2016,91(2):259-272.
[13]Patnaik MM,Teffer A.Chronic myelomonocytic leukemia:2016update on diagnosis,risk stratification,and management[J].Am J Hemat,2016,91(6):362-642.