dc.contributor.author | Ragnarsson, Charlotte | |
dc.contributor.author | Yang, Minjun | |
dc.contributor.author | Moura-Castro, Larissa Helena | |
dc.contributor.author | Aydın, Efe | |
dc.contributor.author | Gunnarsson, Rebeqa | |
dc.contributor.author | Olsson-Arvidsson, Linda | |
dc.contributor.author | Lilljebjörn, Henrik | |
dc.contributor.author | Fioretos, Thoas | |
dc.contributor.author | Duployez, Nicolas | |
dc.contributor.author | Žaliová, Markéta | |
dc.contributor.author | Zuna, Jan | |
dc.contributor.author | Castor, Anders | |
dc.contributor.author | Johansson, Bertil | |
dc.contributor.author | Paulsson, Kajsa | |
dc.date.accessioned | 2024-08-21T15:51:28Z | |
dc.date.available | 2024-08-21T15:51:28Z | |
dc.date.issued | 2024 | |
dc.identifier.uri | https://hdl.handle.net/20.500.14178/2584 | |
dc.description.abstract | Constitutional polymorphisms in ARID5B are associated with an increased risk of developing high hyperdiploid (HeH; 51-67 chromosomes) pediatric B-cell precursor acute lymphoblastic leukemia (BCP ALL). Here, we investigated constitutional and somatic ARID5B 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 ARID5B is located, a significantly higher proportion of risk allele duplication was seen for the SNPs rs7090445 (p = 0.009), rs7089424 (p = 0.005), rs7073837 (p = 0.03), and rs10740055 (p = 0.04). Somatic ARID5B deletions were seen in 16/1335 cases (1.2%), being more common in HeH than in other genetic subtypes (2.2% vs. 0.4%; p = 0.002). The expression of ARID5B in HeH cases with genomic deletions was reduced, consistent with a functional role in leukemogenesis. Whole-genome sequencing and RNA-sequencing in HeH revealed additional somatic events involving ARID5B, resulting in a total frequency of 3.6% of HeH cases displaying a somatic ARID5B aberration. Overall, our results show that both constitutional and somatic events in ARID5B are involved in the leukemogenesis of pediatric BCP ALL, particularly in the HeH subtype. | en |
dc.language.iso | en | |
dc.relation.url | https://doi.org/10.1002/gcc.23242 | |
dc.rights | Creative Commons Uveďte původ-Neužívejte dílo komerčně-Nezpracovávejte 4.0 International | cs |
dc.rights | Creative Commons Attribution-NonCommercial-NoDerivativeWorks 4.0 International | en |
dc.title | Constitutional and acquired genetic variants in ARID5B in pediatric B-cell precursor acute lymphoblastic leukemia | en |
dcterms.accessRights | openAccess | |
dcterms.license | https://creativecommons.org/licenses/by-nc-nd/4.0/legalcode | |
dc.date.updated | 2024-08-21T15:51:28Z | |
dc.subject.keyword | ARID5B variants | en |
dc.subject.keyword | B-cell precursor acute lymphoblastic leukemia | en |
dc.subject.keyword | constitutional | en |
dc.subject.keyword | high hyperdiploidy, pediatric | en |
dc.subject.keyword | somatic | en |
dc.identifier.eissn | 1098-2264 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/MSM//LX22NPO5102 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/FN/I-FN/I-FNM | |
dc.date.embargoStartDate | 2024-08-21 | |
dc.type.obd | 73 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | |
dc.identifier.doi | 10.1002/gcc.23242 | |
dc.identifier.utWos | 001220273500001 | |
dc.identifier.eidScopus | 2-s2.0-85192934050 | |
dc.identifier.obd | 648098 | |
dc.identifier.pubmed | 38738968 | |
dc.subject.rivPrimary | 30000::30200::30205 | |
dc.subject.rivSecondary | 30000::30200::30204 | |
dcterms.isPartOf.name | Genes, Chromosomes & Cancer | |
dcterms.isPartOf.issn | 1045-2257 | |
dcterms.isPartOf.journalYear | 2024 | |
dcterms.isPartOf.journalVolume | 63 | |
dcterms.isPartOf.journalIssue | 5 | |
uk.faculty.primaryId | 109 | |
uk.faculty.primaryName | 2. lékařská fakulta | cs |
uk.faculty.primaryName | Second Faculty of Medicine | en |
uk.faculty.secondaryId | 52 | |
uk.faculty.secondaryName | Fakultní nemocnice v Motole | cs |
uk.faculty.secondaryName | Motol University Hospital | en |
uk.department.primaryId | 109 | |
uk.department.primaryName | 2. lékařská fakulta | cs |
uk.department.primaryName | Second Faculty of Medicine | en |
uk.department.secondaryId | 1675 | |
uk.department.secondaryId | 100010692507 | |
uk.department.secondaryName | Klinika dětské hematologie a onkologie | cs |
uk.department.secondaryName | Klinika dětské hematologie a onkologie | en |
uk.department.secondaryName | Klinika dětské hematologie a onkologie 2. LF UK a FN Motol | cs |
uk.department.secondaryName | Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine and Motol University Hos | en |
dc.type.obdHierarchyCs | ČLÁNEK V ČASOPISU::článek v časopisu::původní článek | cs |
dc.type.obdHierarchyEn | JOURNAL ARTICLE::journal article::original article | en |
dc.type.obdHierarchyCode | 73::152::206 | en |
uk.displayTitle | Constitutional and acquired genetic variants in ARID5B in pediatric B-cell precursor acute lymphoblastic leukemia | en |