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目的:鉴定1例难治/复发急性B淋巴细胞白血病(acute B cell lymphoblastic leukemia, B-ALL)患者中具有病理意义的融合基因，并探讨其实验室及临床特点。方法:应用转录组测序分析可能存在的融合基因，并结合实验室检测和临床资料进行分析。结果:经鉴定患者携带n TCF3 exon 17-n ZNF384 exon 7型融合基因，对应的染色体易位为隐匿性，不易通过核型分析发现。肿瘤细胞伴髓系抗原CD13和CD33表达。患者虽经多种化疗方案和CD19、CD22为靶点的嵌合抗原受体T细胞免疫治疗，仍多次全面复发。患者最终通过异基因造血干细胞移植(allogenic hemopoietic stem cell transplantation，allo-HSCT)获得完全缓解，微小残留病检测持续阴性。n 结论:转录组测序可有效检测白血病中可能存在的具有重要临床意义的融合基因。n TCF3-ZNF384阳性的B-ALL具有独特的实验室和临床特征，可能对化疗和免疫治疗反应不佳，更容易复发，及时行allo-HSCT治疗可帮助这部分患者获得长期无病生存。n TCF3-ZNF384阳性的B-ALL在儿童患者中并不少见，但未被有效鉴定，应被重视和进一步研究。n “,”Objective:To detect fusion gene with pathological significance in a patient with refractory and relapsed acute B cell lymphoblastic leukemia (B-ALL) and to explore its laboratory and clinical characteristics.Methods:Transcriptome sequencing was used to detect potential fusion transcripts. Other laboratory results and clinical data of the patient were also analyzed.Results:The patient was found to harbor n TCF3 exon 17-n ZNF384 exon 7 in-frame fusion transcript. The minimal residual disease (MRD) has remained positive after multiple chemotherapy protocols including CD19-, CD22- targeted chimeric antigen receptor T cells immunotherapy. The patient eventually achieved complete remission and sustained MRD negativity after allogeneic hemopoietic stem cell transplantation (allo-HSCT).n Conclusion:Transcriptome sequencing can effectively detect potential fusion genes with clinical significance in leukemia. n TCF3-ZNF384 positive B-ALL has unique laboratory and clinical characteristics, may not well respond to chemotherapy and immunotherapy, and is more likely to relapse. Timely allo-HSCT treatment may help such patients to achieve long-term disease-free survival. n TCF3-ZNF384 positive B-ALL is not uncommon in pediatric patients but has not been effectively identified.n