{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:10:03Z","timestamp":1756289403364,"version":"3.44.0"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T00:00:00Z","timestamp":1753660800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["eJHaem"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p><jats:italic>DUX4<\/jats:italic> is rearranged and overexpressed in a subgroup of acute lymphoblastic leukemia (ALL) with B\u2010precursor phenotype, with a favorable outcome. Even though characteristic gene expression signature as well as surface expression of CD2\/CD371 could be a hallmark of <jats:italic>DUX4<\/jats:italic>\u2010rearranged ALL, actual detection of <jats:italic>DUX4<\/jats:italic> rearrangement is, however, largely dependent on whole transcriptome analysis due to the highly repetitive nature of <jats:italic>DUX4<\/jats:italic> gene loci and insertion as the main mechanism of fusion gene formation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Polymerase chain reactions (PCRs) with several combinations of multiplex primers located on <jats:italic>DUX4<\/jats:italic> and <jats:italic>IGH<\/jats:italic> gene loci were used for the detection of <jats:italic>DUX4::IGH<\/jats:italic>, which represents more than 90% of <jats:italic>DUX4<\/jats:italic> fusion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>DUX4::IGH<\/jats:italic> fusion was successfully detected in three out of 50 ALL cases analyzed by standard PCR, and these positive cases showed variable insertion of <jats:italic>DUX4<\/jats:italic> into the <jats:italic>IGH<\/jats:italic> locus. In all patients, sequences of unknown origin were observed at the junction of <jats:italic>DUX4<\/jats:italic> and <jats:italic>IGH<\/jats:italic> sequences, indicating the role of the V(D)J recombination mechanism in fusion gene formation. Although <jats:italic>DUX4<\/jats:italic> is tandemly repeated at its locus, only a single copy of the <jats:italic>DUX4<\/jats:italic> sequence was detected at the <jats:italic>IGH<\/jats:italic> locus in two of the three <jats:italic>DUX4<\/jats:italic>\u2010rearranged ALL cases. As previously reported, both CD2 and CD371 were positive in all cases with <jats:italic>DUX4<\/jats:italic>::<jats:italic>IGH<\/jats:italic> fusion, suggesting that the combination of CD2 and CD371 could be a more reliable marker for detecting the presence of this fusion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Identification of <jats:italic>DUX4<\/jats:italic>::<jats:italic>IGH<\/jats:italic> fusion in ALL could be possible more easily by a simple multiplex PCR strategy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jha2.70099","type":"journal-article","created":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T05:50:17Z","timestamp":1753768217000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rapid Identification of <i>DUX4::IGH<\/i> Fusion in Acute Lymphoblastic Leukemia"],"prefix":"10.1002","volume":"6","author":[{"given":"Kyoko","family":"Moritani","sequence":"first","affiliation":[{"name":"Department of Pediatrics Ehime University Graduate School of Medicine  Toon Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6998-279X","authenticated-orcid":false,"given":"Minenori","family":"Eguchi\u2010Ishimae","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ehime University Graduate School of Medicine  Toon Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari","family":"Tezuka\u2010Kagajo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ehime University Graduate School of Medicine  Toon Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Machiko","family":"Miyamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ehime University Graduate School of Medicine  Toon 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