McCurdy Shannon R, Levis Mark J
a Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine , Baltimore , MD , USA.
Leuk Lymphoma. 2018 Sep;59(9):2021-2039. doi: 10.1080/10428194.2017.1393669. Epub 2017 Nov 2.
Recurrent cytogenetic abnormalities have provided the backbone for prognosticating acute myeloid leukemia and predicting response to consolidative therapies for decades. However, more than 45% of acute myeloid leukemia patients have normal cytogenetics on both karyotype and fluorescence in situ hybridization at diagnosis. Increasingly utilized next-generation sequencing has led to the discovery of numerous recurrent molecular mutations in acute myeloid leukemia, which can currently be identified in 97.3% of patients. Despite the prevalence of dozens of these recurrent lesions, only NMP1, CEBPA, KIT, FLT3-ITD, and TP53 have been incorporated into widely accepted risk-stratification schemas, such as the 2017 National Comprehensive Cancer Network guidelines. Here we review the most frequent molecular genetic abnormalities, their utility in predicting relapse and survival, and their function as markers of minimal residual disease. We also provide a summary of sixteen common recurrent molecular abnormalities about which sufficient data exists ( Table 1 ).
几十年来，复发性细胞遗传学异常一直是急性髓系白血病预后评估以及预测巩固治疗反应的基础。然而，超过45%的急性髓系白血病患者在诊断时，其核型和荧光原位杂交检测的细胞遗传学结果均正常。新一代测序技术的应用日益广泛，促使人们发现了急性髓系白血病中众多复发性分子突变，目前在97.3%的患者中都能检测到这些突变。尽管存在数十种此类复发性病变，但只有NMP1、CEBPA、KIT、FLT3-ITD和TP53被纳入了广泛认可的风险分层方案，如2017年美国国立综合癌症网络指南。在此，我们回顾最常见的分子遗传学异常、它们在预测复发和生存方面的作用，以及作为微小残留病标志物的功能。我们还总结了十六种有充分数据的常见复发性分子异常（表1）。
