Academic Journal
Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype
| العنوان: | Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype |
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| المؤلفون: | 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 |
| المساهمون: | Glenn Research Center |
| المصدر: | eJHaem ; volume 4, issue 2, page 446-449 ; ISSN 2688-6146 2688-6146 |
| بيانات النشر: | Wiley |
| سنة النشر: | 2023 |
| المجموعة: | Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1002/jha2.651 |
| الاتاحة: | http://dx.doi.org/10.1002/jha2.651 https://onlinelibrary.wiley.com/doi/pdf/10.1002/jha2.651 https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jha2.651 |
| Rights: | http://creativecommons.org/licenses/by/4.0/ ; http://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: | edsbas.3C742670 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/jha2.651 |
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