Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype
| Autor: | Mar Mallo, Heinz Tuechler, Leonor Arenillas, Sophie Raynaud, Thomas Cluzeau, Lee‐Yung Shih, Chiang Tung‐Liang, Christina Ganster, Katayoon Shirneshan, Detlef Haase, Martí Mascaró, Laura Palomo, José Cervera, Esperanza Such, Nicola Trim, Sally Jeffries, Emma Ridgway, Giovanni Marconi, Giovanni Martinelli, Francesc Solé |
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| Přispěvatelé: | 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 |
| Rok vydání: | 2023 |
| Předmět: |
Síndromes mielodisplàsiques - Aspectes genètics
Síndromes mielodisplàsiques - Prognosi Hemic and Lymphatic Diseases::Hematologic Diseases::Bone Marrow Diseases::Myelodysplastic Syndromes [DISEASES] enfermedades hematológicas y linfáticas::enfermedades hematológicas::enfermedades de la médula ósea::síndromes mielodisplásicos [ENFERMEDADES] General Medicine Diagnosis::Prognosis [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT] diagnóstico::pronóstico [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS] |
| Zdroj: | Scientia |
| ISSN: | 2688-6146 |
| DOI: | 10.1002/jha2.651 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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