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Mutation, methylation, and gene expression profiles in dup(1q)-positive pediatric B-cell precursor acute lymphoblastic leukemia
Lund Univ, Dept Lab Med, Div Clin Genet, Lund, Sweden.
Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
Lund Univ, Dept Lab Med, Div Clin Genet, Lund, Sweden.
Lund Univ, Dept Lab Med, Div Clin Genet, Lund, Sweden;Dept Clin Genet & Pathol, Div Lab Med, Lund, Sweden.
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2018 (engelsk)Inngår i: Leukemia, ISSN 0887-6924, E-ISSN 1476-5551, Vol. 32, nr 10, s. 2117-2125Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

High-throughput sequencing was applied to investigate the mutation/methylation patterns on 1q and gene expression profiles in pediatric B-cell precursor acute lymphoblastic leukemia (BCP ALL) with/without (w/wo) dup(1q). Sequencing of the breakpoint regions and all exons on 1q in seven dup(1q)-positive cases revealed non-synonymous somatic single nucleotide variants (SNVs) in BLZF1, FMN2, KCNT2, LCE1C, NES, and PARP1. Deep sequencing of these in a validation cohort w (n = 17)/wo (n = 94) dup(1q) revealed similar SNV frequencies in the two groups (47% vs. 35%; P = 0.42). Only 0.6% of the 36,259 CpGs on 1q were differentially methylated between cases w (n = 14)/wo (n = 13) dup(1q). RNA sequencing of high hyperdiploid (HeH) and t(1;19)(q23;p13)-positive cases w (n = 14)/wo (n = 52) dup(1q) identified 252 and 424 differentially expressed genes, respectively; only seven overlapped. Of the overexpressed genes in the HeH and t(1;19) groups, 23 and 31%, respectively, mapped to 1q; 60-80% of these encode nucleic acid/protein binding factors or proteins with catalytic activity. We conclude that the pathogenetically important consequence of dup(1q) in BCP ALL is a gene-dosage effect, with the deregulated genes differing between genetic subtypes, but involving similar molecular functions, biological processes, and protein classes.

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Nature Publishing Group, 2018. Vol. 32, nr 10, s. 2117-2125
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Identifikatorer
URN: urn:nbn:se:uu:diva-367402DOI: 10.1038/s41375-018-0092-2ISI: 000446171800003PubMedID: 29626196OAI: oai:DiVA.org:uu-367402DiVA, id: diva2:1267677
Forskningsfinansiär
Swedish Research Council, 2016-01084Swedish Cancer Society, CAN 2017/291Swedish Childhood Cancer Foundation, PR2015-0006Tilgjengelig fra: 2018-12-03 Laget: 2018-12-03 Sist oppdatert: 2018-12-03bibliografisk kontrollert

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