Mallo, MarArenillas Rocha, LeonorSolé, Francesc2024-03-012024-03-012023Mallo 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/jha2.6512688-6146http://hdl.handle.net/10230/59298Half 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.application/pdfeng© 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.info:eu-repo/semantics/articlehttp://dx.doi.org/10.1002/jha2.651ChromosomeCytogeneticsMicroarraysMolecular cytogeneticsMyelodysplastic syndromesinfo:eu-repo/semantics/openAccess