Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Asanbyeongwon-gil 86, Songpa-gu, Seoul, 138-736, South Korea.
Department of Internal Medicine, Chungbuk National University Hospital, Cheongju, South Korea.
Ann Hematol. 2012 May;91(5):671-677. doi: 10.1007/s00277-011-1355-4. Epub 2011 Oct 21.
A recent study from Germany showed that WT1 single nucleotide polymorphism (SNP) rs16754 was an independent prognostic factor in cytogenetically normal acute myeloid leukemia (CN-AML). We analyzed clinical impact of the WT1 rs16754 genotype on disease characteristics and outcomes in Korean patients with CN-AML. A total of 73 patients with CN-AML were included in the study. All patients received standard induction chemotherapy and their bone marrow or peripheral blood samples were cryopreserved at the time of diagnosis. WT1 exons 7 and 9 were amplified using polymerase chain reaction and directly sequenced. The genotype frequency for WT1 rs16754 was 6.8% for AA, 39.7% for GA, and 53.4% for GG. G was a minor allele in German population, whereas it was a major allele in Korean (13.7% vs. 73.3%, P < 0.001). Complete remission was induced in 85.3% of patients with GA/AA and 84.6% of those with GG (P = 0.936). Survival rates were also similar between patients with GG and those with GA/AA. Asian and Western populations exhibited significant differences in allele and genotype frequencies of WT1 rs16754. In Korean patients with CN-AML, WT1 SNP rs16754 had no significant impact on clinical outcomes and further investigations are needed to define prognostic implication of WT1 SNP rs16754 in CN-AML.
最近来自德国的一项研究表明，WT1 单核苷酸多态性 (SNP) rs16754 是细胞遗传学正常的急性髓系白血病 (CN-AML) 的独立预后因素。我们分析了 WT1 rs16754 基因型对韩国 CN-AML 患者疾病特征和结局的临床影响。共有 73 例 CN-AML 患者纳入研究。所有患者均接受标准诱导化疗，在诊断时采集骨髓或外周血样本并进行冷冻保存。使用聚合酶链反应扩增 WT1 外显子 7 和 9，并直接测序。WT1 rs16754 的基因型频率为 AA 为 6.8%，GA 为 39.7%，GG 为 53.4%。G 是德国人群中的次要等位基因，而在韩国人群中是主要等位基因 (13.7%比 73.3%，P<0.001)。GA/AA 患者的完全缓解率为 85.3%，GG 患者为 84.6%（P=0.936）。GG 患者和 GA/AA 患者的生存率也相似。亚洲和西方人群在 WT1 rs16754 的等位基因和基因型频率方面存在显著差异。在韩国 CN-AML 患者中，WT1 SNP rs16754 对临床结局没有显著影响，需要进一步研究来确定 WT1 SNP rs16754 在 CN-AML 中的预后意义。
