Abdel-Wahab Omar
Leukemia Service and Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
Hematology. 2012 Apr;17 Suppl 1:S39-42. doi: 10.1179/102453312X13336169155411.
Advances in sequencing technologies have led to the discovery of a series of mutations in a sizeable proportion of patients with acute myeloid leukemia (AML) over the last 10 years. Clinical correlative studies are now beginning to decipher the clinical importance, prevalence and potential prognostic significance of these mutations in AML but few studies have assessed the clinical implications of these mutations in a comprehensive fashion. Nonetheless, mutations in DNMT3A, TET2, and ASXL1 are emerging as important adverse prognosticators in subsets of patients with AML independent of FLT3 mutations whereas mutations in IDH2 at residue 140 are potential predictors of improved outcome in AML. Further improvements in cost, throughput, and clinical validation of second-generation sequencing technologies may allow for clinical implementation of comprehensive genetic profiling in the clinical care of AML patients.
在过去十年中，测序技术的进步使得在相当一部分急性髓系白血病（AML）患者中发现了一系列突变。临床相关性研究目前正开始解读这些突变在AML中的临床重要性、发生率及潜在的预后意义，但很少有研究全面评估这些突变的临床意义。尽管如此，DNMT3A、TET2和ASXL1的突变正成为AML患者亚组中重要的不良预后指标，与FLT3突变无关，而IDH2第140位残基的突变则是AML患者预后改善的潜在预测指标。第二代测序技术在成本、通量和临床验证方面的进一步改进，可能会使全面基因谱分析在AML患者的临床护理中得以临床应用。
