Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype-Reference-Cited by-同舟云学术

Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype

Published:2023-02-07 Issue:2 Volume:4 Page:446-449
ISSN:2688-6146
Container-title:eJHaem
language:en
Short-container-title:eJHaem

Author:

Mallo Mar¹²^ORCID,Tuechler Heinz³,Arenillas Leonor⁴,Raynaud Sophie⁵,Cluzeau Thomas⁵,Shih Lee‐Yung⁶,Tung‐Liang Chiang⁶,Ganster Christina⁷^ORCID,Shirneshan Katayoon⁷,Haase Detlef⁷,Mascaró Martí⁸,Palomo Laura⁹,Cervera José¹⁰,Such Esperanza¹⁰^ORCID,Trim Nicola¹¹,Jeffries Sally¹¹,Ridgway Emma¹¹,Marconi Giovanni¹²^ORCID,Martinelli Giovanni¹²,Solé Francesc¹

Affiliation:

1. MDS Research Group Institut de Recerca Contra la Leucèmia Josep Carreras (IJC) ICO‐Hospital Germans Trias i Pujol Universitat Autònoma de Barcelona Badalona Spain

2. Microarrays Unit Institut de Recerca Contra la Leucèmia Josep Carreras (IJC) ICO‐Hospital Germans Trias i Pujol Universitat Autònoma de Barcelona Badalona Spain

3. Boltzmann Institute for Leukaemia Research and Hematology Vienna Austria

4. Hematological Cytology Laboratory Pathology Department Hospital del Mar GRETNHE, IMIM (Hospital del Mar Research Institute) Barcelona Spain

5. Hematology Department Cote d'Azur University CHU of Nice Nice France

6. Division of Hematology Chang Gung Memorial Hospital‐Linkuo Chang Gung University Taoyuan City Taiwan

7. Clinics of Hematology and Medical Oncology University Medical Center Göttingen Göttingen Germany

8. Hematology Service Hospital Son Llàtzer Palma de Mallorca Spain

9. Experimental Hematology Vall d'Hebron Institute of Oncology (VHIO) Vall d'Hebron Barcelona Hospital Campus Barcelona Spain

10. Hematology Service Hospital Universitario La Fe Valencia Spain

11. West Midlands Regional Genetics Laboratory Birmingham Women's Hospital Birmingham UK

12. IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) “Dino Amadori” Meldola Italy

Abstract

AbstractHalf 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.

Funder

Glenn Research Center

Publisher

Wiley

Subject

General Earth and Planetary Sciences

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jha2.651

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