Noronha Thiago Rodrigo de, Rohr Sandra Serson, Chauffaille Maria de Lourdes Lopes Ferrari
Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.
Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.
Rev Bras Hematol Hemoter. 2015 Jan-Feb;37(1):48-54. doi: 10.1016/j.bjhh.2014.09.011. Epub 2014 Nov 21.
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.
规范急性髓系白血病/骨髓增生异常综合征的单核苷酸多态性阵列（SNP a）方法，并确定该方法与核型分析结果之间的异同。
对22例诊断为急性髓系白血病的患者和3例骨髓增生异常综合征患者进行研究。使用骨髓细胞、从骨髓单个核细胞和颊黏膜细胞（BC）中提取的DNA进行G显带核型分析和单核苷酸多态性阵列分析（CytoScan® HD）。
研究患者的平均年龄为54岁，中位数年龄为55岁（范围：28 - 93岁）。12例（48%）为男性，13例（52%）为女性。10例患者核型异常（40.0%），11例正常（44.0%），4例无分裂象（16.0%）。关于骨髓单核苷酸多态性阵列分析结果：17例异常（68.0%），8例正常（32.0%）。比较两种方法，核型分析共鉴定出17种改变（8种缺失/丢失、7种三体/增加和2种易位），单核苷酸多态性阵列分析共鉴定出42种改变（17种丢失、16种增加和9种拷贝数中性杂合性丢失）。
在急性髓系白血病/骨髓增生异常综合征中规范单核苷酸多态性阵列分析并将结果与核型分析检测到的异常进行比较是可行的。与核型分析相比，单核苷酸多态性阵列分析提高了异常检测率，还鉴定出了一组新的异常，值得在未来研究中进一步探讨。
