Yohe Sophia
Department of Laboratory Medicine and Pathology, Divisions of Hematopathology and Molecular Genetic Pathology, University of Minnesota, MMC Box 609 Mayo, 420 Delaware St. SE. Minneapolis, MN 55455, USA.
J Clin Med. 2015 Mar 12;4(3):460-78. doi: 10.3390/jcm4030460.
Genetics play an increasingly important role in the risk stratification and management of acute myeloid leukemia (AML) patients. Traditionally, AML classification and risk stratification relied on cytogenetic studies; however, molecular detection of gene mutations is playing an increasingly important role in classification, risk stratification, and management of AML. Molecular testing does not take the place of cytogenetic testing results, but plays a complementary role to help refine prognosis, especially within specific AML subgroups. With the exception of acute promyelocytic leukemia, AML therapy is not targeted but the intensity of therapy is driven by the prognostic subgroup. Many prognostic scoring systems classify patients into favorable, poor, or intermediate prognostic subgroups based on clinical and genetic features. Current standard of care combines cytogenetic results with targeted testing for mutations in FLT3, NPM1, CEBPA, and KIT to determine the prognostic subgroup. Other gene mutations have also been demonstrated to predict prognosis and may play a role in future risk stratification, although some of these have not been confirmed in multiple studies or established as standard of care. This paper will review the contribution of cytogenetic results to prognosis in AML and then will focus on molecular mutations that have a prognostic or possible therapeutic impact.
遗传学在急性髓系白血病（AML）患者的风险分层和管理中发挥着越来越重要的作用。传统上，AML的分类和风险分层依赖于细胞遗传学研究；然而，基因突变的分子检测在AML的分类、风险分层和管理中发挥着越来越重要的作用。分子检测并不能取代细胞遗传学检测结果，而是起到补充作用，有助于完善预后评估，尤其是在特定的AML亚组中。除急性早幼粒细胞白血病外，AML的治疗并非靶向治疗，但治疗强度由预后亚组决定。许多预后评分系统根据临床和遗传特征将患者分为预后良好、不良或中等的亚组。目前的护理标准是将细胞遗传学结果与针对FLT3、NPM1、CEBPA和KIT基因突变的靶向检测相结合，以确定预后亚组。其他基因突变也已被证明可预测预后，可能在未来的风险分层中发挥作用，尽管其中一些尚未在多项研究中得到证实或确立为护理标准。本文将综述细胞遗传学结果对AML预后的贡献，然后重点关注具有预后或可能治疗影响的分子突变。
