Platzbecker Uwe, Larson Richard A, Gurbuxani Sandeep
Department of Hematology and Cellular Therapy, Medical Clinic and Policlinic I Leipzig University Hospital Leipzig Germany.
Department of Medicine and Comprehensive Cancer Center University of Chicago Chicago Illinois USA.
Hemasphere. 2025 Jan 31;9(2):e70083. doi: 10.1002/hem3.70083. eCollection 2025 Feb.
As a consequence of rapidly developing genetic technologies and advances in the understanding of the pathogenesis of acute myeloid leukemia (AML), the classification of AML has moved gradually from a morphologic and cytochemical-based system to one that is genetically defined. Recent molecular and genetic developments have been integrated into the diagnostic criteria for AML in the fifth edition of the World Health Organization (WHO) Classification of Haematolymphoid Tumours and the 2022 International Consensus Classification (ICC) of Myeloid Neoplasms and Acute Leukemias, expanding the list of genetically defined entities. In this review article, we use a case-based format describing the diagnostic workup, risk stratification, and possible treatment options to highlight the impact of the 2022 WHO and ICC classifications on clinical practice. We show that despite much commentary and anguish, there is a significant overlap between the two classifications. We further highlight the fact that even for entities with divergent nomenclature, such as -mutated AML, the actual genetic lesion leads to convergent therapy.
随着基因技术的迅速发展以及对急性髓系白血病(AML)发病机制认识的进步,AML的分类已逐渐从基于形态学和细胞化学的系统转变为基于基因定义的系统。最近的分子和遗传学进展已被纳入世界卫生组织(WHO)《血液淋巴系统肿瘤分类》第五版以及2022年《髓系肿瘤和急性白血病国际共识分类》(ICC)中AML的诊断标准,从而扩大了基因定义实体的范围。在这篇综述文章中,我们采用基于病例的形式描述诊断检查、风险分层和可能的治疗选择,以突出2022年WHO和ICC分类对临床实践的影响。我们表明,尽管有很多评论和困扰,但这两种分类之间存在显著重叠。我们进一步强调这样一个事实,即即使对于命名不同的实体,如NPM1突变型AML,实际的基因病变也会导致趋同的治疗方法。