Single Nucleotide Polymorphism Array Karyotyping: A Diagnostic and Prognostic Tool in Myelodysplastic Syndromes with Unsuccessful Conventional Cytogenetic Testing
Single Nucleotide Polymorphism Array Karyotyping: A Diagnostic and Prognostic Tool in Myelodysplastic Syndromes with Unsuccessful Conventional Cytogenetic Testing
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DOI：
10.1002/gcc.22112
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发表时间：
2013-12-01
影响因子：
3.7
通讯作者：
Sole, Francesc
中科院分区：
文献类型：
--
作者：
Arenillas, Leonor;Mallo, Mar;Sole, Francesc
中期细胞遗传学（MC）鉴定的细胞遗传学畸变在骨髓增生异常综合征（MDS）的诊断、预后和治疗中具有重要意义。然而，在某些MDS患者中，MC研究并不成功。基于单核苷酸多态性阵列（SNP-A）的核型分析可能有助于这些情况。我们对62例MC研究不成功的原发性MDS患者的骨髓或外周血样本进行了SNP-A检测。SNP-A分析能够检测31例（50%）患者的畸变。我们使用拷贝数改变信息应用国际预后评分系统（IPSS），我们观察了低/中-1和中-2/高风险患者之间的生存差异。当我们应用修订的IPSS（IPSS-R）时，我们还观察到极低/低/中等和高/极高患者之间的生存差异。总之，SNP-A可以成功地用于PB样本中，并且通过SNP-A鉴定CNA提高了这组MDS患者的诊断和预后评估。(c)2013 Wiley Periodicals，Inc.
Cytogenetic aberrations identified by metaphase cytogenetics (MC) have diagnostic, prognostic, and therapeutic implications in myelodysplastic syndromes (MDS). However, in some MDS patients MC study is unsuccesful. Single nucleotide polymorphism array (SNP-A) based karyotyping could be helpful in these cases. We performed SNP-A in 62 samples from bone marrow or peripheral blood of primary MDS with an unsuccessful MC study. SNP-A analysis enabled the detection of aberrations in 31 (50%) patients. We used the copy number alteration information to apply the International Prognostic Scoring System (IPSS) and we observed differences in survival between the low/intermediate-1 and intermediate-2/high risk patients. We also saw differences in survival between very low/low/intermediate and the high/very high patients when we applied the revised IPSS (IPSS-R). In conclusion, SNP-A can be used successfully in PB samples and the identification of CNA by SNP-A improve the diagnostic and prognostic evaluation of this group of MDS patients. (c) 2013 Wiley Periodicals, Inc.