Sistema de Salut de Catalunya
Institut Català de la Salut
[Mallo M] MDS Research Group, Institut de Recerca Contra la Leucèmia Josep Carreras (IJC), ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain. Microarrays Unit, Institut de Recerca Contra la Leucèmia Josep Carreras (IJC), ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain. [Tuechler H] Boltzmann Institute for Leukaemia Research and Hematology, Vienna, Austria. [Arenillas L] Hematological Cytology Laboratory, Pathology Department, Hospital del Mar, GRETNHE, IMIM (Hospital del Mar Research Institute), Barcelona, Spain. [Raynaud S, Cluzeau T] Hematology Department, Cote d’Azur University, CHU of Nice, Nice, France. [Shih LY] Division of Hematology, Chang Gung Memorial Hospital-Linkuo, Chang Gung University, Taoyuan City, Taiwan. [Palomo L] Experimental Hematology, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
2023-05-25T07:38:06Z
2023-05-25T07:38:06Z
2023-05
Chromosome; Cytogenetics; Myelodysplastic syndromes
Cromosoma; Citogenética; Síndromes mielodisplásicos
Cromosoma; Citogenètica; Síndromes mielodisplàsics
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.
2017 SGR288 (GRC) and CERCA Programme/Generalitat de Catalunya. Fundació Internacional Josep Carreras; Italy Ministry of Health.
Article
Published version
English
Síndromes mielodisplàsiques - Aspectes genètics; Síndromes mielodisplàsiques - Prognosi; DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Bone Marrow Diseases::Myelodysplastic Syndromes; ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis; ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::enfermedades de la médula ósea::síndromes mielodisplásicos; TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico
Wiley
EJHaem;4(2)
https://doi.org/10.1002/jha2.651
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
