{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T22:14:20Z","timestamp":1782166460226,"version":"3.54.5"},"reference-count":28,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T00:00:00Z","timestamp":1715558400000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002794","name":"Cancerfonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002794","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006313","name":"Barncancerfonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006313","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp;amp; Cancer"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Constitutional polymorphisms in <jats:italic>ARID5B<\/jats:italic> are associated with an increased risk of developing high hyperdiploid (HeH; 51\u201367 chromosomes) pediatric B\u2010cell precursor acute lymphoblastic leukemia (BCP ALL). Here, we investigated constitutional and somatic <jats:italic>ARID5B<\/jats:italic> variants in 1335 BCP ALL cases from five different cohorts, with a particular focus on HeH cases. In 353 HeH ALL that were heterozygous for risk alleles and trisomic for chromosome 10, where <jats:italic>ARID5B<\/jats:italic> is located, a significantly higher proportion of risk allele duplication was seen for the SNPs rs7090445 (<jats:italic>p<\/jats:italic>\u2009=\u20090.009), rs7089424 (<jats:italic>p<\/jats:italic>\u2009=\u20090.005), rs7073837 (<jats:italic>p<\/jats:italic>\u2009=\u20090.03), and rs10740055 (<jats:italic>p<\/jats:italic>\u2009=\u20090.04). Somatic <jats:italic>ARID5B<\/jats:italic> deletions were seen in 16\/1335 cases (1.2%), being more common in HeH than in other genetic subtypes (2.2% vs. 0.4%; <jats:italic>p<\/jats:italic>\u2009=\u20090.002). The expression of <jats:italic>ARID5B<\/jats:italic> in HeH cases with genomic deletions was reduced, consistent with a functional role in leukemogenesis. Whole\u2010genome sequencing and RNA\u2010sequencing in HeH revealed additional somatic events involving <jats:italic>ARID5B<\/jats:italic>, resulting in a total frequency of 3.6% of HeH cases displaying a somatic <jats:italic>ARID5B<\/jats:italic> aberration. Overall, our results show that both constitutional and somatic events in <jats:italic>ARID5B<\/jats:italic> are involved in the leukemogenesis of pediatric BCP ALL, particularly in the HeH subtype.<\/jats:p>","DOI":"10.1002\/gcc.23242","type":"journal-article","created":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T13:39:26Z","timestamp":1715607566000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Constitutional and acquired genetic variants in <scp><i>ARID5B<\/i><\/scp> in pediatric B\u2010cell precursor acute lymphoblastic leukemia"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-7244-9521","authenticated-orcid":false,"given":"Charlotte","family":"Ragnarsson","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"},{"name":"Department of Paediatrics, Sk\u00e5ne University Hospital Lund University  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minjun","family":"Yang","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9063-5592","authenticated-orcid":false,"given":"Larissa Helena","family":"Moura\u2010Castro","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Efe","family":"Ayd\u0131n","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebeqa","family":"Gunnarsson","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Olsson\u2010Arvidsson","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"},{"name":"Department of Clinical Genetics, Pathology, and Molecular Diagnostics Office for Medical Services, Region Sk\u00e5ne  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8703-1173","authenticated-orcid":false,"given":"Henrik","family":"Lilljebj\u00f6rn","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thoas","family":"Fioretos","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"},{"name":"Department of Clinical Genetics, Pathology, and Molecular Diagnostics Office for Medical Services, Region Sk\u00e5ne  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Duployez","sequence":"additional","affiliation":[{"name":"Laboratory of Haematology, Centre Hospitalier Universitaire (CHU) Lille University of Lille, INSERM Unit\u00e9 1277 Canther  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1639-7124","authenticated-orcid":false,"given":"Marketa","family":"Zaliova","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haematology and Oncology, Second Faculty of Medicine Charles University\/University Hospital Motol  Prague Czech Republic"},{"name":"Childhood Leukaemia Investigation Prague (CLIP)  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Zuna","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haematology and Oncology, Second Faculty of Medicine Charles University\/University Hospital Motol  Prague Czech Republic"},{"name":"Childhood Leukaemia Investigation Prague (CLIP)  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anders","family":"Castor","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Sk\u00e5ne University Hospital Lund University  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertil","family":"Johansson","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"},{"name":"Department of Clinical Genetics, Pathology, and Molecular Diagnostics Office for Medical Services, Region Sk\u00e5ne  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7950-222X","authenticated-orcid":false,"given":"Kajsa","family":"Paulsson","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20040524"},{"key":"e_1_2_10_3_1","first-page":"315","article-title":"Recent advances in the ARID family: focusing on roles in human cancer","volume":"7","author":"Lin C","year":"2014","journal-title":"Onco Targets 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