Acute myeloid leukemia (AML) is a type of cancer caused by aggressive neoplastic proliferations of immature myeloid cells that is fatal if untreated. AML accounts for 1.0% of all new cancer cases in the United States, with a 5-year relative survival rate of 30.5%. Once defined primarily morphologically, advances in next generational sequencing have expanded the role of molecular genetics in categorizing the disease. As such, both the World Health Organization Classification of Haematopoietic Neoplasms and The International Consensus Classification System now define a variety of AML subsets based on mutations in driver genes such as NPM1, CEBPA, TP53, ASXL1, BCOR, EZH2, RUNX1, SF3B1, SRSF2, STAG2, U2AF1, and ZRSR2. This article provides an overview of some of the genetic mutations associated with AML and compares how the new classification systems incorporate molecular genetics into the definition of AML.

急性髓系白血病 (AML) 是一种由未成熟髓系细胞的侵袭性肿瘤性增殖引起的癌症，如果不及时治疗会致命。AML 占美国所有新发癌症病例的 1.0%，5 年相对生存率为 30.5%。一旦主要从形态学上定义，下一代测序的进步已经扩大了分子遗传学在疾病分类中的作用。因此，世界卫生组织造血肿瘤分类和国际共识分类系统现在都根据 NPM1、CEBPA、TP53、ASXL1、BCOR、EZH2、RUNX1、SF3B1、SRSF2 等驱动基因的突变定义了多种 AML 子集、STAG2、U2AF1和ZRSR2. 本文概述了一些与 AML 相关的基因突变，并比较了新的分类系统如何将分子遗传学纳入 AML 的定义。