Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype
Mallo, Maria del Mar (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Tuechler, Heinz (Boltzmann Institute for Leukaemia Research and Hematology)
Arenillas, Leonor (Hospital del Mar (Barcelona, Catalunya))
Raynaud, Sophie (Cote d'Azur University)
Cluzeau, Thomas (Cote d'Azur University)
Shih, Lee-Yung (Chang Gung University)
Tung-Liang, Chiang (Chang Gung University)
Ganster, Christina (University Medical Center Göttingen)
Shirneshan, Katayoon (University Medical Center Göttingen)
Haase, Detlef (University Medical Center Göttingen)
Mascaró, Martí (Hospital Universitari Son Llàtzer (Palma de Mallorca, Balears))
Palomo Sanchís, Laura (Vall d'Hebron Institut d'Oncologia)
Cervera, José (Hospital Universitari i Politècnic La Fe (València))
Such, Esperanza (Hospital Universitari i Politècnic La Fe (València))
Trim, Nicola (Birmingham Women's Hospital)
Jeffries, Sally (Birmingham Women's Hospital)
Ridgway, Emma (Birmingham Women's Hospital)
Marconi, Giovanni (IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori")
Martinelli, Giovanni (IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori")
Sole, F (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Universitat Autònoma de Barcelona

Date:	2023
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.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Chromosome ; Cytogenetics ; Microarrays ; Molecular cytogenetics ; Myelodysplastic syndromes
Published in:	EJHaem, Vol. 4 (february 2023) , p. 446-449, ISSN 2688-6146

DOI: 10.1002/jha2.651
PMID: 37206269

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP) > Josep Carreras Leukaemia Research Institute
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