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

Mallo, Mar; Arenillas Rocha, Leonor; Solé, Francesc

doi:http://dx.doi.org/10.1002/jha2.651

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

Llicència

Citació

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

Resum

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.