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

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 wit...

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Detalles Bibliográficos
Autores principales: Mallo, Mar, Tuechler, Heinz, Arenillas, Leonor, Raynaud, Sophie, Cluzeau, Thomas, Shih, Lee‐Yung, Tung‐Liang, Chiang, Ganster, Christina, Shirneshan, Katayoon, Haase, Detlef, Mascaró, Martí, Palomo, Laura, Cervera, José, Such, Esperanza, Trim, Nicola, Jeffries, Sally, Ridgway, Emma, Marconi, Giovanni, Martinelli, Giovanni, Solé, Francesc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188467/
https://www.ncbi.nlm.nih.gov/pubmed/37206269
http://dx.doi.org/10.1002/jha2.651
Descripción
Sumario: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.

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