학술논문
Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype
Document Type
Report
Author
Mallo, Mar; Tuechler, Heinz; Arenillas, Leonor; Raynaud, Sophie; Cluzeau, Thomas; Shih, Lee‐Yung; Tung‐Liang, Chiang; Ganster, Christina; Shirneshan, Katayoon; Haase, Detlef; Mascaró, Martí; Palomo, Laura; Cervera, José; Such, Esperanza; Trim, Nicola; Jeffries, Sally; Ridgway, Emma; Marconi, Giovanni; Martinelli, Giovanni; Solé, Francesc
Source
ejHaem. May 2023, Vol. 4 Issue 2, p446, 4 p.
Subject
Language
English
Abstract
INTRODUCTION Myelodysplastic syndromes (MDS) constitute a group of heterogeneous disorders, whose current diagnosis requires integration from different disciplines. Cytogenetics is the current gold standard for cytogenetic diagnosis and it is [...]
: 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.
: 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.