{"entity": "publication", "iuid": "2daca50176a84ba4a38dab5246d59692", "timestamp": "2026-09-28T11:44:06.850Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/2daca50176a84ba4a38dab5246d59692.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/2daca50176a84ba4a38dab5246d59692"}}, "title": "Mutation, methylation, and gene expression profiles in dup(1q)-positive pediatric B-cell precursor acute lymphoblastic leukemia.", "authors": [{"family": "Gunnarsson", "given": "Rebeqa", "initials": "R"}, {"family": "Dilorenzo", "given": "Sebastian", "initials": "S"}, {"family": "Lundin-Str\u00f6m", "given": "Kristina B", "initials": "KB"}, {"family": "Olsson", "given": "Linda", "initials": "L"}, {"family": "Biloglav", "given": "Andrea", "initials": "A"}, {"family": "Lilljebj\u00f6rn", "given": "Henrik", "initials": "H", "orcid": "0000-0001-8703-1173", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/83d3c8e64bb5452a9a6332c0a21a5a51.json"}}, {"family": "Rissler", "given": "Marianne", "initials": "M"}, {"family": "Wahlberg", "given": "Per", "initials": "P"}, {"family": "Lundmark", "given": "Anders", "initials": "A"}, {"family": "Castor", "given": "Anders", "initials": "A"}, {"family": "Behrendtz", "given": "Mikael", "initials": "M"}, {"family": "Fioretos", "given": "Thoas", "initials": "T"}, {"family": "Paulsson", "given": "Kajsa", "initials": "K", "orcid": "0000-0001-7950-222X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/54d7266ff8fc4ba98245c1ec0d99df65.json"}}, {"family": "Isaksson", "given": "Anders", "initials": "A", "orcid": "0000-0001-6576-7825", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aad89c431f5241f18c0c4173e0a4bce6.json"}}, {"family": "Johansson", "given": "Bertil", "initials": "B"}], "type": "journal article", "published": "2018-10-00", "journal": {"title": "Leukemia", "issn": "1476-5551", "volume": "32", "issue": "10", "pages": "2117-2125", "issn-l": "0887-6924"}, "abstract": "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.", "doi": "10.1038/s41375-018-0092-2", "pmid": "29626196", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC6170391"}, {"db": "pii", "key": "10.1038/s41375-018-0092-2"}], "notes": [], "created": "2026-09-23T13:27:18.389Z", "modified": "2026-09-23T13:27:18.471Z"}