dc.contributor
Institut Català de la Salut
dc.contributor
[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
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Mallo, Maria del Mar
dc.contributor.author
Tuechler, Heinz
dc.contributor.author
Arenillas, Leonor
dc.contributor.author
Raynaud, Sophie
dc.contributor.author
Cluzeau, Thomas
dc.contributor.author
Shih, Lee-Yung
dc.contributor.author
Palomo Diaz, Laura
dc.date.accessioned
2025-10-25T05:37:33Z
dc.date.available
2025-10-25T05:37:33Z
dc.date.issued
2023-05-25T07:38:06Z
dc.date.issued
2023-05-25T07:38:06Z
dc.identifier
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 May;4(2):446–9.
dc.identifier
https://hdl.handle.net/11351/9617
dc.identifier
10.1002/jha2.651
dc.identifier.uri
http://hdl.handle.net/11351/9617
dc.description.abstract
Chromosome; Cytogenetics; Myelodysplastic syndromes
dc.description.abstract
Cromosoma; Citogenética; Síndromes mielodisplásicos
dc.description.abstract
Cromosoma; Citogenètica; Síndromes mielodisplàsics
dc.description.abstract
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.
dc.description.abstract
2017 SGR288 (GRC) and CERCA Programme/Generalitat de Catalunya. Fundació Internacional Josep Carreras; Italy Ministry of Health.
dc.format
application/pdf
dc.format
application/pdf
dc.relation
https://doi.org/10.1002/jha2.651
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Síndromes mielodisplàsiques - Aspectes genètics
dc.subject
Síndromes mielodisplàsiques - Prognosi
dc.subject
DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Bone Marrow Diseases::Myelodysplastic Syndromes
dc.subject
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis
dc.subject
ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::enfermedades de la médula ósea::síndromes mielodisplásicos
dc.subject
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico
dc.title
Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
