| Summary: | <i>DUX4</i>-rearrangement (<i>DUX4r</i>) is a recently discovered recurrent genomic lesion reported in 4–7% of childhood B cell acute lymphoblastic leukaemia (B-ALL) cases. This subtype has favourable outcomes, especially in children and adolescents treated with intensive chemotherapy. The fusion most commonly links the hypervariable <i>IGH</i> gene to <i>DUX4</i> a gene located within the D4Z4 macrosatellite repeat on chromosome 4, with a homologous polymorphic repeat on chromosome 10. <i>DUX4r</i> is cryptic to most standard diagnostic techniques, and difficult to identify even with next generation sequencing assays. This review summarises the clinical features and molecular genetics of <i>DUX4</i>r B-ALL and proposes prospective new diagnostic methods.
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