[Clinical characteristics of DUX4-IGH fusion B-cell acute lymphoblastic leukemia in children]

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.

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.

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.

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.