伴有t(6;9)(p23;q34)/DEK-NUP214融合基因阳性的急性髓系白血病患者的特征分析

Characteristics of patients with acute myeloid leukemia accompanied with t(6;9)(p23;q34)/DEK-NUP214

目的探讨伴有t(6;9)(p23;q34)/DEK-NUP214融合基因阳性的急性髓系白血病(AML)患者的特征。方法应用流式细胞术对8例初诊AML患者进行免疫分型;8例初诊AML患者的骨髓细胞培养24 h后按常规制备染色体,利用G显带技术进行染色体核型分析;采用实时荧光定量PCR的方法扩增DEK-NUP214融合基因。结果8例患者均异常表达AML抗原谱(主要包括HLA-DR、cMPO、CD33、CD13、CD34、CD11b、CD117);8例AML患者均形成DEK-NUP214融合基因,6例伴t(6;9)(p23;q34)易位,4例进行基因突变检测患者中,2例检出FLT3-ITD突变阳性;在中国人民解放军空军军医大学第一附属医院/西京医院住院治疗的5例患者中,1例未化疗即死亡,2例患者第1疗程用IDA标准剂量化疗,1例无效死亡,1例死于感染;2例行地西他滨联合CAG方案化疗,1例缓解后行异基因造血干细胞移植术,术后1.5年死于肺部感染,1例缓解后很快复发死亡。结论伴有t(6;9)(p23;q34)/DEK-NUP214融合基因阳性的AML是一类独特的、预后极差的急性白血病,检测DEK-NUP214融合基因有助于这类疾病的诊断、危险度分层、疗效观察和预后判断。

Objective To explore the characteristics of acute myeloid leukemia(AML)with t(6;9)(p23;q34)/DEK-NUP214 fusion gene.Methods Immunophenotyping analysis was performed by flow cytometry in 8 initial diagnosis patients,and the chromosome of 8 AML patients were prepared after 24 h short-term culturing of their bone marrow cells.The chromosome karyotype was analyzed by the G band technique.DEK-NUP214 fusion gene was amplified by real-time fluorescence quantitative PCR.Results Eight AML patients all demonstrated abnormal expression of myeloid cell antigenic spectrum(HLA-DR,cMPO,CD33,CD13,CD34,CD11b,CD117).Eight cases were all accompanied DEK-NUP214 fusion gene,six cases with t(6;9)(p23;q34).FLT3-ITD mutation was detected only in two patients among four tested patients.Among the five patients treated in the First Affiliated Hospital of the PLA Air Force Military Medical University/Xijing Hospital,one died before chemotherapy.In the remaining four patients,two patients were administered IDA standard dose chemotherapy in the first course of treatment,resulting one died from ineffectiveness,and one died from infection.The other two patients were administered Decitabine and CAG chemotherapy,one patient underwent allogeneic hematopoietic stem cell transplantation after remission,and died of lung infection after one and a half year,and the other one patient relapsed in a short time and died.Conclusion AML with t(6;9)(p23;q34)/DEK-NUP214 is an unique disease associated with poor prognosis.The detection of DEK-NUP214 fusion could improve the diagnosis,risk stratification,efficacy observation and prognosis judgment of this disease.