Ali Mohamed A M, Ahmed Emad K, Assem Magda M A, Helwa Reham
1Department of Biochemistry, Faculty of Science, Ain Shams University, Abbassia, Cairo, 11566 Egypt.
2Clinical Pathology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Indian J Hematol Blood Transfus. 2018 Apr;34(2):240-252. doi: 10.1007/s12288-017-0852-6. Epub 2017 Jul 24.
Although the clinical features of isocitrate dehydrogenase () genetic aberrations have been well-characterized in acute myeloid leukemia (AML), definitive information on their prognostic significance is lacking. We aimed to explore the prognostic significance of gene alterations in an Egyptian cohort of adult patients with AML. Diagnostic peripheral blood samples from 51 AML patients were analyzed for the presence of mutations/SNPs in exon 4 of and genes using polymerase chain reaction amplification followed by direct sequencing. mutational status had no impact on event-free survival (EFS) and overall survival (OS), whereas the presence of 315C>T SNP was significantly associated with inferior EFS ( = 0.037) and OS ( = 0.034) as compared with wild-type . 315C>T SNP but not mutations is associated with unfavorable outcomes, suggesting that AML patients with 315C>T SNP can represent a new subgroup of patients which allows refined risk stratification.
尽管异柠檬酸脱氢酶（）基因畸变的临床特征在急性髓系白血病（AML）中已有充分描述，但关于其预后意义的明确信息仍很缺乏。我们旨在探讨埃及成年AML患者队列中基因改变的预后意义。使用聚合酶链反应扩增并直接测序，分析了51例AML患者诊断时外周血样本中基因和基因第4外显子的突变/单核苷酸多态性（SNP）。基因突变状态对无事件生存期（EFS）和总生存期（OS）无影响，而与野生型相比，315C>T SNP的存在与较差的EFS（=0.037）和OS（=0.034）显著相关。315C>T SNP而非基因突变与不良预后相关，这表明携带315C>T SNP的AML患者可能代表一个新的患者亚组，有助于进行更精确的风险分层。
