Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype
Mallo, Maria del Mar ![ORCID Identifier](/img/uab/orcid.ico)
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Tuechler, Heinz (Boltzmann Institute for Leukaemia Research and Hematology)
Arenillas, Leonor ![ORCID Identifier](/img/uab/orcid.ico)
(Hospital del Mar (Barcelona, Catalunya))
Raynaud, Sophie (Cote d'Azur University)
Cluzeau, Thomas (Cote d'Azur University)
Shih, Lee-Yung ![ORCID Identifier](/img/uab/orcid.ico)
(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: |
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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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Record created 2023-07-12, last modified 2024-05-22