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: Mallo, Maria del Mar|||0000-0001-7741-498X, Tuechler, Heinz|||0000-0002-1568-3436, Arenillas, Leonor|||0000-0002-9020-8766, Raynaud, Sophie, Cluzeau, Thomas, Shih, Lee-Yung|||0000-0003-1866-7922, Tung-Liang, Chiang, Ganster, Christina|||0000-0002-7566-5985, Shirneshan, Katayoon, Haase, Detlef|||0000-0001-7229-8000, Mascaró, Martí, Palomo Sanchís, Laura|||0000-0003-3176-6271, Cervera, José|||0000-0001-8252-1106, Such, Esperanza|||0000-0001-6892-403X, Trim, Nicola, Jeffries, Sally, Ridgway, Emma, Marconi, Giovanni|||0000-0001-6309-0515, Martinelli, Giovanni|||0000-0002-1025-4210, Sole, F.|||0000-0002-3251-2161
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:279356
Acceso en línea:https://ddd.uab.cat/record/279356
https://dx.doi.org/urn:doi:10.1002/jha2.651
Access Level:acceso abierto
Palabra clave:Chromosome
Cytogenetics
Microarrays
Molecular cytogenetics
Myelodysplastic syndromes
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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