Meta-analysis of cancer triploidy : Rearrangements of genome complements in male human tumors are characterized by XXY karyotypes

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dc.contributor.authorVainshelbaum, Ninel M.
dc.contributor.authorZayakin, Pawel
dc.contributor.authorKleina, Regīna
dc.contributor.authorGiuliani, Alessandro
dc.contributor.authorĒrenpreisa, Jekaterina
dc.contributor.institutionDepartment of Pathology
dc.date.accessioned2021-08-16T10:35:01Z
dc.date.available2021-08-16T10:35:01Z
dc.date.issued2019-08-13
dc.descriptionFunding Information: Funding: This work has been supported by a grant of the European Regional Development Fund (ERDF) project No. 1.1.1.1/18/A/099 and Alfred Raisner memorial scholarship to N.M.V. Publisher Copyright: © 2019 by the authors.
dc.description.abstractTriploidy in cancer is associated with poor prognosis, but its origins remain unclear. Here, we attempted to differentiate between random chromosomal and whole-genome origins of cancer triploidy. In silico meta-analysis was performed on 15 male malignant and five benign tumor cohorts (2928 karyotypes) extracted from the Mitelman Database, comparing their ploidy and combinations of sex chromosomes. A distinct near-triploid fraction was observed in all malignant tumor types, and was especially high in seminoma. For all tumor types, X-chromosome doubling, predominantly observed as XXY, correlated strongly with the near-triploid state (r ≈ 0.9, p < 0.001), negatively correlated with near-diploidy, and did not correlate with near-tetraploidy. A smaller near-triploid component with a doubled X-chromosome was also present in three of the five benign tumor types, especially notable in colon adenoma. Principal component analysis revealed a non-random correlation structure shaping the X-chromosome disomy distribution across all tumor types. We suggest that doubling of the maternal genome followed by pedogamic fusion with a paternal genome (a possible mimic of the fertilization aberration, 69, XXY digyny) associated with meiotic reprogramming may be responsible for the observed rearrangements of genome complements leading to cancer triploidy. The relatively frequent loss of the Y-chromosome results as a secondary factor from chromosome instability.en
dc.description.statusPeer reviewed
dc.format.extent16
dc.format.extent4619037
dc.identifier.citationVainshelbaum, N M, Zayakin, P, Kleina, R, Giuliani, A & Ērenpreisa, J 2019, 'Meta-analysis of cancer triploidy : Rearrangements of genome complements in male human tumors are characterized by XXY karyotypes', Genes, vol. 10, no. 8, 613. https://doi.org/10.3390/genes10080613
dc.identifier.doi10.3390/genes10080613
dc.identifier.issn2073-4425
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/6013
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85071372966&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofGenes
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectCancer near-triploidy
dc.subjectDigyny
dc.subjectKaryotype meta-analysis
dc.subjectMale tumors
dc.subjectWhole-genome rearrangements
dc.subjectXXY
dc.subject3.1 Basic medicine
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectGenetics
dc.subjectGenetics(clinical)
dc.subjectSDG 3 - Good Health and Well-being
dc.titleMeta-analysis of cancer triploidy : Rearrangements of genome complements in male human tumors are characterized by XXY karyotypesen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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