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Constitutional and acquired genetic variants in ARID5B in pediatric B-cell precursor acute lymphoblastic leukemia

dc.contributor.authorRagnarsson, Charlotte
dc.contributor.authorYang, Minjun
dc.contributor.authorMoura-Castro, Larissa Helena
dc.contributor.authorAydın, Efe
dc.contributor.authorGunnarsson, Rebeqa
dc.contributor.authorOlsson-Arvidsson, Linda
dc.contributor.authorLilljebjörn, Henrik
dc.contributor.authorFioretos, Thoas
dc.contributor.authorDuployez, Nicolas
dc.contributor.authorŽaliová, Markéta
dc.contributor.authorZuna, Jan
dc.contributor.authorCastor, Anders
dc.contributor.authorJohansson, Bertil
dc.contributor.authorPaulsson, Kajsa
dc.date.accessioned2024-08-21T15:51:28Z
dc.date.available2024-08-21T15:51:28Z
dc.date.issued2024
dc.identifier.urihttps://hdl.handle.net/20.500.14178/2584
dc.description.abstractConstitutional 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.isoen
dc.relation.urlhttps://doi.org/10.1002/gcc.23242
dc.rightsCreative Commons Uveďte původ-Neužívejte dílo komerčně-Nezpracovávejte 4.0 Internationalcs
dc.rightsCreative Commons Attribution-NonCommercial-NoDerivativeWorks 4.0 Internationalen
dc.titleConstitutional and acquired genetic variants in ARID5B in pediatric B-cell precursor acute lymphoblastic leukemiaen
dcterms.accessRightsopenAccess
dcterms.licensehttps://creativecommons.org/licenses/by-nc-nd/4.0/legalcode
dc.date.updated2024-08-21T15:51:28Z
dc.subject.keywordARID5B variantsen
dc.subject.keywordB-cell precursor acute lymphoblastic leukemiaen
dc.subject.keywordconstitutionalen
dc.subject.keywordhigh hyperdiploidy, pediatricen
dc.subject.keywordsomaticen
dc.identifier.eissn1098-2264
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/MSM//LX22NPO5102
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/FN/I-FN/I-FNM
dc.date.embargoStartDate2024-08-21
dc.type.obd73
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.identifier.doi10.1002/gcc.23242
dc.identifier.utWos001220273500001
dc.identifier.eidScopus2-s2.0-85192934050
dc.identifier.obd648098
dc.identifier.pubmed38738968
dc.subject.rivPrimary30000::30200::30205
dc.subject.rivSecondary30000::30200::30204
dcterms.isPartOf.nameGenes, Chromosomes & Cancer
dcterms.isPartOf.issn1045-2257
dcterms.isPartOf.journalYear2024
dcterms.isPartOf.journalVolume63
dcterms.isPartOf.journalIssue5
uk.faculty.primaryId109
uk.faculty.primaryName2. lékařská fakultacs
uk.faculty.primaryNameSecond Faculty of Medicineen
uk.faculty.secondaryId52
uk.faculty.secondaryNameFakultní nemocnice v Motolecs
uk.faculty.secondaryNameMotol University Hospitalen
uk.department.primaryId109
uk.department.primaryName2. lékařská fakultacs
uk.department.primaryNameSecond Faculty of Medicineen
uk.department.secondaryId1675
uk.department.secondaryId100010692507
uk.department.secondaryNameKlinika dětské hematologie a onkologiecs
uk.department.secondaryNameKlinika dětské hematologie a onkologieen
uk.department.secondaryNameKlinika dětské hematologie a onkologie 2. LF UK a FN Motolcs
uk.department.secondaryNameDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine and Motol University Hosen
dc.type.obdHierarchyCsČLÁNEK V ČASOPISU::článek v časopisu::původní článekcs
dc.type.obdHierarchyEnJOURNAL ARTICLE::journal article::original articleen
dc.type.obdHierarchyCode73::152::206en
uk.displayTitleConstitutional and acquired genetic variants in ARID5B in pediatric B-cell precursor acute lymphoblastic leukemiaen


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