急性髓细胞白血病相关基因突变的研究现状

Advance in gene mutations related with acute myeloid leukemia

急性髓细胞白血病（AML）是一组以多种驱动基因突变为特征的血液系统恶性疾病，具有很高的临床、细胞遗传学和分子生物学异质性。AML患者在接受治疗前进行危险度分层，对选择和拟定恰当的治疗计划，以及预后评估均具有重要意义。随着第2代基因测序技术的广泛应用，越来越多的AML相关基因突变被发现，这一方面使AML的发病机制得以进一步阐明，另一方面AML相关基因突变亦被运用于AML的诊断和预后评估中，从而对AML的分子分型及治疗的发展方向产生深刻的影响。笔者拟就AML中常见的基因突变及其分类进行阐述。

Acute myeloid leukemia （AML） is a clinically, cytogenetically and molecularly heterogeneous hematologic malignancy, characterized by multiple somatically acquired driver mutations. Risk stratification before treatment is of significance to choose appropriately clinical pathway and estimate prognosis. With the development of the next-generation sequencing technology, growing number of mutations related with AML are identified. Those discoveries are integrated into diagnosis and prognosis estimation of AML to clarify its pathogenesis, exerting profound effects for classification and treatment of AML in the future. This article reviews the gene mutations and their classifications in AML.