全基因组芯片检测在MDS诊断及预后中的应用

目的:探讨全基因组芯片（SNP-A）检测在骨髓增生异常综合征（MDS）患者诊断方面的特异性、敏感性及预后中的应用价值。方法:对2019年09月到2020年04月期间我院诊治的20例初诊MDS患者，依据修订的国际预后积分系统（IPSS-R）对患者进行危险度分组，应用SNP-A对MDS患者进行全基因组范围 DNA 拷贝数的变异（CNV）和单亲二倍体（UPD）的检测，总结特点并与常规染色体核型分析（CCA）结果进行比较。结果:20例 MDS 患者染色体核型分析的异常检出率为40%，与SNP-A相结合染色体异常的检出率提高至65%，二者比较差异有统计学意义（P＜0.05）；低危组和高危组患者核型异常的检出率分别为15%和25%，与 SNP-A相结合异常检出率分别提高至30%和35%（P＜0.05）；SNP-A检测出CNV和UPD高危组患者均明显高于低危组患者（P＜0.01）。结论:SNP-A与CCA的联合使用，大大提高了MDS患者染色体变异的检出率， 并且SNP-A能够对 MDS 患者提供更多更全面的遗传学信息，对于疾病的诊断和预后有重要价值。

The study of SNP-Array in clinical application of MDS

Objective:To explore the specificity,sensitivity and prognosis of single nucleotide polymorphasim array (SNP-A) detection in the newly diagnosis of myelodysplastic syndrome(MDS) patients.Methods:To study the 20 newly diagnosed MDS patients admitted to our hospital,group the patients according to the revised international prognostic score system(IPSS-R),and use SNP-A to perform genome-wide DNA copy number variation(CNV) and uniparental disomie(UPD),summarize the characteristics of CNV and UPD,then compare with the conventional cytogenetic analysis(CCA).Results:The abnormal detection rate of CCA of 20 MDS patients was 40%.It was increased to 65% combined with SNP-A.There was a statistical difference between them (P＜0.05).The detection rates of CCA in low-risk and high-risk patients were 15% and 25%,respectively,and them were increased to 30% and 35% combined with SNP-A,respectively(P＜0.05).The number of CNV and UPD in high-risk groups were significantly higher than those in low-risk groups（P＜0.01）.Conclusion:The combined use of SNP-A and CCA greatly improves the detection rate of chromosomal variation in MDS patients,and SNP-A can provide more comprehensive genetic information to MDS patients.It has important value for the diagnosis and prognosis of MDS.