急性髓细胞性白血病（AML）是起源于造血干/祖细胞的恶性克隆性疾病，其发生和发展涉及多种遗传学异常。精准诊断分型是AML临床治疗及预后评估的重要基础。随着对于AML发病机制研究的逐渐深入以及细胞遗传学、分子生物学、高通量测序等技术手段的不断发展，AML的分型及预后评估体系历经了基于细胞形态学、细胞遗传学和分子分型的发展历程。分子分型体系可为AML的精准分型、个体化分层治疗、预后评估以及疗效监测等各方面提供重要参考，为白血病现代化精准诊疗奠定了坚实基础。

Acute myeloid leukemia (AML) is a malignant clonal disease originating from hemopoietic stem cells or progenitor cells. The occurrence and development of AML involve various genetic abnormalities. Accurate diagnostic typing is an important basis for clinical treatment and prognosis evaluation of AML. With the in-depth research on the pathogenesis of AML and progresses of cytogenetics, molecular biology, and high throughput sequencing, the development of typing and prognosis evaluation system for AML has been successively based on cytomorphology, cytogenetics, and molecular typing. The molecular typing system provides essential reference for accurate typing, individualized stratified therapy, prognosis evaluation, and efficacy monitoring, etc. and lays a solid foundation for modern accurate diagnosis and treatment of AML.