伴EP300-ZNF384融合基因阳性的急性B淋巴细胞白血病临床特点分析

Analysis of Clinical Characteristics of Acute B Lymphoblastic Leukemia with EP300-ZNF384 Fusion Gene Positive

目的:探讨与分析对EP300-ZNF384融合基因阳性的急性B淋巴细胞白血病(B-ALL)患者的临床及实验室特征,以期提高对此少见类型疾病的认识。方法:收集并回顾性分析本院自2017年2月至2018年2月收治的37例B-ALL的临床资料,对检出EP300-ZNF384融合基因阳性3例患者的临床、实验室特征及治疗情况进行深入分析。结果:8.1%的B-ALL患者检测出EP300-ZNF384融合基因。3例患者R显带核型分析均为正常核型,在免疫分型上均表达有CD13或CD33等髓系标志。3例患者均对于传统化疗敏感。结论:EP300-ZNF384阳性的B-ALL可能是一类具有独特临床特点与实验室检测特征的B-ALL亚型,可能对当前化疗方案敏感,可能预后良好。

Objective:To investigate the clinical manifestations and laboratory features of B-ALL patients with EP300-ZNF384 fusion gene positive,so as to improve the understanding of this subtype disease.Methods:The clinical data of 3 B-ALL patients with EP300-ZNF384 fusion gene positive admitted in Department of Hematology,the first medical center of Chinese PLA general hospital from February 2017 to February 2018 were collected and analyzed retrospectively.The clinical and laboratory characteristics as well as the therapentic outcome in B-ALL patients with EP300-ZNF384 fusion gene positive were analyzed.Results:The fusion gene of EP300-ZNF384 was detected in 8.1%(3/37)of B-ALL patients.All cases showed the normal karyotype and aberrant CD13 and/or CD33 expression for immunophenotype.3 patients were sensitive to traditional chemotherapy.Conclusion:The B-ALL with EEP300-ZNF384 fusion gene positive may be a subgroup of B-ALL with a uniqe clinical characteristis and laboatorial features.EP300-ZNF384 positive patients show a good response to conventional chemotherapy,suggesting a favorable prognosis.