目的 总结DUX4-IGH融合儿童B系急性淋巴细胞白血病（B-cell acute lymphoblastic leukemia, B-ALL）的临床特征，为该亚组白血病的诊断及治疗提供依据。 方法 收集2020年9月—2024年4月期间广州医科大学附属妇女儿童医疗中心DUX4-IGH融合的B-ALL患儿的临床资料，回顾性分析该亚组患儿的临床特点、实验室特征及治疗效果。 结果 共纳入315例B-ALL患儿，通过转录组测序共检出17例DUX4-IGH融合病例（5.4%）。其中位年龄为5岁6个月（范围：2岁10个月至12岁）。染色体核型多为正常核型。根据患儿年龄、WBC计数、有无中枢受累，初诊时15例（88.2%）患儿评为低危。根据治疗反应，最终危险度为低危者7例，中危者10例。中位随访时间为38个月（范围：34~43个月），最长随访时间达55个月，此17例患者MRD持续阴性，无事件生存。 结论 DUX4-IGH融合在儿童B-ALL中常见，转录组测序能较灵敏地识别DUX4-IGH融合，对B-ALL的精准分型及预后评估具有重要价值。DUX4-IGH融合诱导治疗早期反应欠佳，但整体预后良好。

Objective To study the clinical characteristics of DUX4-IGH fusion B-cell acute lymphoblastic leukemia (B-ALL) in children in order to inform the diagnosis and treatment of this subtype. Methods Clinical data of children with DUX4-IGH fusion B-ALL treated at Women and Children's Medical Center, Guangzhou Medical University from September 2020 to April 2024 were collected. DUX4-IGH fusion was identified by transcriptome sequencing, and clinical features, laboratory findings, and treatment outcomes were retrospectively analyzed. Results Among 315 children with B-ALL, 17 DUX4-IGH fusion cases were detected by transcriptome sequencing, accounting for 5.4%. The median age was 5.5 years (range: 2 years and 10 months to 12 years). Chromosome karyotypes were mostly normal. Based on age, white blood cell count, and central nervous system involvement, 15 patients (88.2%) were classified as low risk at initial diagnosis. After evaluation of treatment response, 7 patients were low risk and 10 were intermediate risk. The median follow-up was 38 months (range: 34 to 43 months), and the longest follow-up was 55 months. Minimal residual disease remained persistently negative in all 17 patients, and all patients remained event-free during follow-up. Conclusions DUX4-IGH fusion is relatively common in pediatric B-ALL. Transcriptome sequencing enables sensitive detection of this fusion, aiding precise subtyping and prognostic assessment. Early induction response is suboptimal, but the overall prognosis is favorable.