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In B-cell acute lymphoblastic leukemia (B-ALL),\n                    <jats:italic>DUX4<\/jats:italic>\n                    rearrangements (\n                    <jats:italic>DUX4<\/jats:italic>\n                    -r) define a distinct genomic subtype affecting 5\u201310% of cases, which is more frequent among older children and teenagers. These rearrangements produce truncated DUX4 proteins with neomorphic transcriptional activity, resulting in aberrant gene expression programs and alternative splicing that disrupt normal B-cell precursor development. Patients with\n                    <jats:italic>DUX4<\/jats:italic>\n                    -r B-ALL often present with poor initial treatment responses, though they typically achieve excellent long-term survival rates with intensive chemotherapy regimens. The cryptic nature of\n                    <jats:italic>DUX4<\/jats:italic>\n                    rearrangements has historically posed significant challenges to accurate detection, but recent advancements in next-generation sequencing technologies, including RNA and long-read sequencing, and improved immunophenotyping strategies\u2014such as the use of CD371 as a surrogate marker\u2014are enhancing diagnostic accuracy. This review explores the genetic and biological features of\n                    <jats:italic>DUX4<\/jats:italic>\n                    and its rearrangements, shedding light on their role in leukemogenesis and associated clinical outcomes. Additionally, we highlight emerging technologies that enable the detection of\n                    <jats:italic>DUX4<\/jats:italic>\n                    -r and discuss their implications for clinical use and research. An improved understanding of\n                    <jats:italic>DUX4<\/jats:italic>\n                    biology and its oncogenic potential may pave the way for novel treatment strategies, ultimately improving outcomes for patients with\n                    <jats:italic>DUX4<\/jats:italic>\n                    -r B-ALL.\n                  <\/jats:p>","DOI":"10.1038\/s41375-025-02758-5","type":"journal-article","created":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T07:17:05Z","timestamp":1757661425000},"page":"2835-2847","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["DUX4-rearranged B-ALL: deciphering a biological and clinical conundrum"],"prefix":"10.1038","volume":"39","author":[{"given":"Jack","family":"Bakewell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9781-6107","authenticated-orcid":false,"given":"Anthony V.","family":"Moorman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5507-0060","authenticated-orcid":false,"given":"Sarra L.","family":"Ryan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,9,12]]},"reference":[{"key":"2758_CR1","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1038\/s41375-022-01806-8","volume":"37","author":"SL Ryan","year":"2023","unstructured":"Ryan SL, Peden JF, Kingsbury Z, Schwab CJ, James T, Polonen P, et al. Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia. Leukemia. 2023;37:518\u201328.","journal-title":"Leukemia"},{"key":"2758_CR2","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1038\/ng.3691","volume":"48","author":"J Zhang","year":"2016","unstructured":"Zhang J, McCastlain K, Yoshihara H, Xu B, Chang Y, Churchman ML, et al. Deregulation of DUX4 and ERG in acute lymphoblastic leukemia. Nat Genet. 2016;48:1481\u20139.","journal-title":"Nat Genet"},{"key":"2758_CR3","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/ng.3535","volume":"48","author":"T Yasuda","year":"2016","unstructured":"Yasuda T, Tsuzuki S, Kawazu M, Hayakawa F, Kojima S, Ueno T, et al. Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults. Nat Genet. 2016;48:569\u201374.","journal-title":"Nat Genet"},{"key":"2758_CR4","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1006\/geno.2002.6690","volume":"79","author":"M van Geel","year":"2002","unstructured":"van Geel M, Dickson MC, Beck AF, Bolland DJ, Frants RR, van der Maarel SM, et al. Genomic Analysis of Human Chromosome 10q and 4q Telomeres Suggests a Common Origin. Genomics. 2002;79:210\u20137.","journal-title":"Genomics"},{"key":"2758_CR5","doi-asserted-by":"crossref","unstructured":"Campolungo D, Salom\u00e9 M, Biferali B, Tascini AS, Gabellini D. DUX4-r exerts a neomorphic activity that depends on GTF2I in acute lymphoblastic leukemia. Sci Adv. 2023;9:eadi3771.","DOI":"10.1126\/sciadv.adi3771"},{"key":"2758_CR6","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/s41375-022-01799-4","volume":"37","author":"C Schwab","year":"2023","unstructured":"Schwab C, Cranston RE, Ryan SL, Butler E, Winterman E, Hawking Z, et al. Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial. Leukemia. 2023;37:529\u201338.","journal-title":"Leukemia"},{"key":"2758_CR7","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1182\/blood.2020010144","volume":"138","author":"E Paietta","year":"2021","unstructured":"Paietta E, Roberts KG, Wang V, Gu Z, Buck GAN, Pei D, et al. Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL. Blood. 2021;138:948\u201358.","journal-title":"Blood"},{"key":"2758_CR8","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1002\/cncr.34606","volume":"129","author":"CH Yu","year":"2023","unstructured":"Yu CH, Jou ST, Su YH, Coustan-Smith E, Wu G, Cheng CN, et al. Clinical impact of minimal residual disease and genetic subtypes on the prognosis of childhood acute lymphoblastic leukemia. 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