Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes.
Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes.
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DOI：
10.1016/j.bjhh.2014.09.011
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发表时间：
2015-01
影响因子：
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通讯作者：
Chauffaille, Maria de Lourdes Lopes Ferrari
中科院分区：
文献类型：
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作者：
Noronha, Thiago Rodrigo de;Rohr, Sandra Serson;Chauffaille, Maria de Lourdes Lopes Ferrari
目的：规范单核苷酸多态芯片(SNPA)方法在急性髓系白血病/骨髓增生异常综合征(AML/MDS)中的应用，并分析该方法与核型结果的异同。对22例诊断为急性髓系白血病和3例骨髓增生异常综合征患者进行了研究。采用G显带核型分析和单核苷酸多态阵列分析(CytoScan®HD)方法，对患者的骨髓细胞、骨髓单个核细胞DNA和口腔粘膜细胞进行G显带核型分析。研究患者的平均年龄为54岁，中位年龄为55岁(范围：28-93岁)。男性12人(48%)，女性13人(52%)。核型异常10例(40.0%)，正常11例(44.0%)，无核分裂4例(16.0%)。骨髓单核苷酸多态芯片分析结果：异常17例(68.0%)，正常8例(32.0%)。比较两种方法，核型分析共发现17个改变(8个缺失/缺失、7个三体/获得和2个易位)，单核苷酸多态性阵列分析共发现42个改变(17个丢失、16个增加和9个拷贝中性杂合性丢失)。对急性髓系白血病/骨髓增生异常综合征进行标准化的单核苷酸多态芯片分析，并将结果与核型检测的异常进行比较是可能的。与核型分析相比，单核苷酸多态阵列分析提高了异常的检出率，并发现了一组新的异常，值得在未来的研究中进一步研究。
To standardize the single nucleotide polymorphism array (SNPa) method in acute myeloid leukemia/myelodysplastic syndromes, and to identify the similarities and differences between the results of this method and karyotyping. Twenty-two patients diagnosed with acute myeloid leukemia and three with myelodysplastic syndromes were studied. The G-banding karyotyping and single nucleotide polymorphism array analysis (CytoScan® HD) were performed using cells from bone marrow, DNA extracted from mononuclear cells from bone marrow and buccal cells (BC). The mean age of the patients studied was 54 years old, and the median age was 55 years (range: 28–93). Twelve (48%) were male and 13 (52%) female. Ten patients showed abnormal karyotypes (40.0%), 11 normal (44.0%) and four had no mitosis (16.0%). Regarding the results of bone marrow single nucleotide polymorphism array analysis: 17 were abnormal (68.0%) and eight were normal (32.0%). Comparing the two methods, karyotyping identified a total of 17 alterations (8 deletions/losses, 7 trissomies/gains, and 2 translocations) and single nucleotide polymorphism array analysis identified a total of 42 alterations (17 losses, 16 gains and 9 copy-neutral loss of heterozygosity). It is possible to standardize single nucleotide polymorphism array analysis in acute myeloid leukemia/myelodysplastic syndromes and compare the results with the abnormalities detected by karyotyping. Single nucleotide polymorphism array analysis increased the detection rate of abnormalities compared to karyotyping and also identified a new set of abnormalities that deserve further investigation in future studies.