Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype

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• dc.contributor.author Mallo, Mar
• dc.contributor.author Arenillas Rocha, Leonor
• dc.contributor.author Solé, Francesc
• dc.date.accessioned 2024-03-01T07:30:58Z
• dc.date.available 2024-03-01T07:30:58Z
• dc.date.issued 2023
• dc.description.abstract Half of the myelodysplastic syndromes (MDS) have normal karyotype by conventional banding analysis. The percentage of true normal karyotype cases can be reduced by 20-30% with the complementary application of genomic microarrays. We here present a multicenter collaborative study of 163 MDS cases with a normal karyotype (≥10 metaphases) at diagnosis. All cases were analyzed with the ThermoFisher® microarray (either SNP 6.0 or CytoScan HD) for the identification of both copy number alteration(CNA) and regions of homozygosity (ROH). Our series supports that 25 Mb cut-off as having the most prognostic impact, even after adjustment by IPSS-R. This study highlights the importance of microarrays in MDS patients, to detect CNAs and especially to detect acquired ROH which has demonstrated a high prognostic impact.
• dc.format.mimetype application/pdf
• dc.identifier.citation Mallo M, Tuechler H, Arenillas L, Raynaud S, Cluzeau T, Shih LY et al. Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype. EJHaem. 2023 Feb 7;4(2):446-9. DOI: 10.1002/jha2.651
• dc.identifier.doi http://dx.doi.org/10.1002/jha2.651
• dc.identifier.issn 2688-6146
• dc.identifier.uri http://hdl.handle.net/10230/59298
• dc.language.iso eng
• dc.publisher Wiley
• dc.relation.ispartof EJHaem. 2023 Feb 7;4(2):446-9
• dc.rights © 2023 The Authors. eJHaem published by British Society for Haematology and John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Chromosome
• dc.subject.keyword Cytogenetics
• dc.subject.keyword Microarrays
• dc.subject.keyword Molecular cytogenetics
• dc.subject.keyword Myelodysplastic syndromes
• dc.title Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion