1例急性粒单核细胞白血病M_(4C)的MICM分型
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摘要
目的报道1例急性粒单核细胞白血病M_(4C)的MICM分型,以提高对M_(4C)的认识。方法回顾性分析我院收治的1例M_(4C)的病历资料,并对其进行骨髓细胞形态学、细胞化学染色、骨髓活检、免疫表型、染色体核型、融合基因、二代测序等检查分析。结果患者骨髓细胞形态示:骨髓增生明显活跃,粒单核细胞占85.6%。细胞化学染色示:过氧化物酶(POX)染色部分弱阳性;特异性酯酶(AS-DCE)染色部分阳性;非特异性酯酶(α-NBE)染色部分阳性,且被氟化钠抑制;非特异性酯酶(AS-DAE)染色部分阳性,且部分被氟化钠抑制。骨髓活检示:骨髓增生极活跃,幼稚细胞弥漫性增生。免疫表型结果示:异常细胞群表达CD11B、CD64、CD56、cMPO、CD33、CD41、CD61、CD38和CD58,不表达CD13、CD34、CD117、CD7、CD123、HLA-DR、CD10、CD19、CD20、CD2、CD14、CD235、CD15、CD303、CD304、CD25、cCD79a、cCD3、cCD22、CD1a和TDT。染色体核型分析显示见克隆性异常t(9;11)(p22;q23),+mar。白血病43种融合基因筛查检出MLLT3-KMT2A融合基因阳性。二代测序检出NRAS、TET2基因突变阳性。诊断为AML(急性粒单核细胞白血病)M_(4C)伴t(9;11)(p22;q23);MLLT3-KMT2A。结论 M_(4C)既具有粒细胞系又具有单核细胞系的特征,细胞形态学表现复杂,其诊断必需结合MICM分型综合判断。
Objective To describe the MICM(morphology, immunology, cytogenetics and molecular biology) characteristics of a case of acute myelomonocytic leukemia M_(4 C). Methods The medical history data of the case of M_(4 C) admitted to our hospital was reviewed. The results of bone marrow cell morphology, cytochemical stains, bone marrow biopsy, immunophenotype, cytogenetics, molecular test and NGS(next-generation sequencing) of the case were analyzed. Results The bone marrow smear showed markedly active proliferation of bone marrow cells in which the myelomonocytic cells accounted for 85.6%. Cytochemical stains showed peroxidase(POX) stain partially and weakly positive; specific esterase AS-DCE partially positive; non-specific esterase α-NBE partially positive and smothered by sodium fluoride; non-specific esterase AS-DAE partially positive and smothered by sodium fluoride. Bone marrow biopsy showed hyperproliferative cells and diffused hyperplasia of blasts. Immunophenotype analysis showed that the abnormal cell population was positive for CD11 B, CD64, CD56, cMPO, CD33, CD41, CD61, CD38 and CD58, but negative for CD13, CD34, CD117, CD7, CD123, HLA-DR, CD10, CD19, CD20, CD2, CD14, CD235, CD15, CD303, CD304, CD25, cCD79 a, cCD3, cCD22, CD1 a and TDT. Cytogenetic analysis showed 47, XY, t(9;11)(p22;q23),+mar. The molecular test for leukemia showed MLLT3/KMT2 A gene rearrangement. NGS showed NRAS and TET2 mutation. The case was finally diagnosed as AML(acute myelomonocytic leukemia) M_(4 C) with t(9;11)(p22;q23), MLLT3-KMT2 A. Conclusion Leukemia M_(4 C) may show the characteristics of both granulocytes and monocytes with complex morphological features. The combined examination of MICM should be necessary for the diagnosis of M_(4 C) with great significance.
Objective To describe the MICM(morphology, immunology, cytogenetics and molecular biology) characteristics of a case of acute myelomonocytic leukemia M_(4 C). Methods The medical history data of the case of M_(4 C) admitted to our hospital was reviewed. The results of bone marrow cell morphology, cytochemical stains, bone marrow biopsy, immunophenotype, cytogenetics, molecular test and NGS(next-generation sequencing) of the case were analyzed. Results The bone marrow smear showed markedly active proliferation of bone marrow cells in which the myelomonocytic cells accounted for 85.6%. Cytochemical stains showed peroxidase(POX) stain partially and weakly positive; specific esterase AS-DCE partially positive; non-specific esterase α-NBE partially positive and smothered by sodium fluoride; non-specific esterase AS-DAE partially positive and smothered by sodium fluoride. Bone marrow biopsy showed hyperproliferative cells and diffused hyperplasia of blasts. Immunophenotype analysis showed that the abnormal cell population was positive for CD11 B, CD64, CD56, cMPO, CD33, CD41, CD61, CD38 and CD58, but negative for CD13, CD34, CD117, CD7, CD123, HLA-DR, CD10, CD19, CD20, CD2, CD14, CD235, CD15, CD303, CD304, CD25, cCD79 a, cCD3, cCD22, CD1 a and TDT. Cytogenetic analysis showed 47, XY, t(9;11)(p22;q23),+mar. The molecular test for leukemia showed MLLT3/KMT2 A gene rearrangement. NGS showed NRAS and TET2 mutation. The case was finally diagnosed as AML(acute myelomonocytic leukemia) M_(4 C) with t(9;11)(p22;q23), MLLT3-KMT2 A. Conclusion Leukemia M_(4 C) may show the characteristics of both granulocytes and monocytes with complex morphological features. The combined examination of MICM should be necessary for the diagnosis of M_(4 C) with great significance.
引文
[1]沈悌,赵永强.血液病诊断及疗效标准 [M].第4版.北京:科学出版社,2018:97.
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[4]陈万新,晏想成,程范军,等.一例急性M4C型非淋巴细胞白血病的MIC分型[J].中华儿科杂志,1995,33(2):119.
[5]沈爱玲,陈兵,汪洪毅.急性粒-单核细胞白血病(M4)分型中细胞化学的应用[J].青岛医药卫生,2000,32(4):297-298.
[6]陈芳,胡延平,王孝会,等.急性早幼粒细胞白血病免疫表型特点[J].中国实验血液学杂志,2016,24 (2):321-325.
[7]Iriyama N,Hatta Y,Takeuchi J,et al.CD56 expression is an independent prognostic factor for relapse in acute myeloid leukemia with t(8;21) [J].Leuk Res,2013,37 (9):1021-1026.
[8]Chang H,Brandwein J,Yi QL,et al.Extramedullary infiltrates of AML are associated with CD56 expression,11q23 abnormalities and inferior clinical outcome [J].Leuk Res,2004,28 (10):1007-1011.
[9]Winters AC,Bernt KM.MLL-rearranged leukemias-An update on science and clinical approaches [J].Front Pediatr,2017,5 (9):4.
[10]Mohamed AM,Balsat M,Koering C,et al.TET2 exon 2 skipping is an independent favorable prognostic factor for cytogenetically normal acute myelogenous leukemia (AML) TET2 exon 2 skipping in AML [J].Leuk Res,2017,56:21-28.
[2]Bennett JM,Catovsky D,Daniel MT,et al.Proposal revised criteria for the classification of acute myeloid leukemia.A report of the French-American-British Cooperative Group [J].Ann Intern Med,1985,103(4):620-625.
[3]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.
[4]陈万新,晏想成,程范军,等.一例急性M4C型非淋巴细胞白血病的MIC分型[J].中华儿科杂志,1995,33(2):119.
[5]沈爱玲,陈兵,汪洪毅.急性粒-单核细胞白血病(M4)分型中细胞化学的应用[J].青岛医药卫生,2000,32(4):297-298.
[6]陈芳,胡延平,王孝会,等.急性早幼粒细胞白血病免疫表型特点[J].中国实验血液学杂志,2016,24 (2):321-325.
[7]Iriyama N,Hatta Y,Takeuchi J,et al.CD56 expression is an independent prognostic factor for relapse in acute myeloid leukemia with t(8;21) [J].Leuk Res,2013,37 (9):1021-1026.
[8]Chang H,Brandwein J,Yi QL,et al.Extramedullary infiltrates of AML are associated with CD56 expression,11q23 abnormalities and inferior clinical outcome [J].Leuk Res,2004,28 (10):1007-1011.
[9]Winters AC,Bernt KM.MLL-rearranged leukemias-An update on science and clinical approaches [J].Front Pediatr,2017,5 (9):4.
[10]Mohamed AM,Balsat M,Koering C,et al.TET2 exon 2 skipping is an independent favorable prognostic factor for cytogenetically normal acute myelogenous leukemia (AML) TET2 exon 2 skipping in AML [J].Leuk Res,2017,56:21-28.