对急性髓性白血病（AML）的分子异质性的综合分析，特别是当恶性细胞保留正常核型时，已经有了显着的进展。 2022 年，世界卫生组织 (WHO) 分类和欧洲白血病网 (ELN) 2022 年急性髓系白血病 (AML) 指南进行了重大修订。这些修订恰逢第一版 AML 国际共识分类 (ICC) 的启动。这些修改旨在通过全面整合复杂的遗传和临床参数来改善诊断和治疗结果，并促进创新临床试验的累积。主要更新包括修改 AML 诊断的原始细胞计数标准，WHO 2022 取消了存在 AML 定义异常时 ≥20% 原始细胞的要求，ICC 2022 设置了复发性遗传异常的 10% 截止值。此外，还引入了新的类别，例如 TP53 突变的 AML 和 MDS/AML。 ELN 2022 指南保留了风险分层方法，并强调了可测量残留病 (MRD) 的关键作用，增加了下一代测序 (NGS) 和流式细胞术检测的使用。这些修订强调了精确分类对于有针对性的治疗策略和改善患者治疗结果的重要性。这些分类呈现出多少差异与一致性以及这些分类对临床实践的影响是一个持续的讨论。

Comprehensive analyses of the molecular heterogeneity of acute myelogenous leukemia, AML, particularly when malignant cells retain normal karyotype, has significantly evolved. In 2022, significant revisions were introduced in the World Health Organization (WHO) classification and the European LeukemiaNet (ELN) 2022 guidelines of acute myeloid leukemia (AML). These revisions coincided with the inception of the first version of the International Consensus Classification (ICC) for AML. These modifications aim to improve diagnosis and treatment outcomes via a comprehensive incorporation of sophisticated genetic and clinical parameters as well as facilitate accruals to innovative clinical trials. Key updates include modifications to the blast count criteria for AML diagnosis, with WHO 2022 eliminating the ≥20% blast requirement in the presence of AML-defining abnormalities and ICC 2022 setting a 10% cutoff for recurrent genetic abnormalities. Additionally, new categories, such as AML with mutated TP53 and MDS/AML, were introduced. ELN 2022 guidelines retained risk stratification approach and emphasized the critical role of measurable residual disease (MRD) that increased the use of next-generation sequencing (NGS) and flow cytometry testing. These revisions underscore the importance of precise classification for targeted treatment strategies and improved patient outcomes. How much difference versus concordance these classifications present and the impact of those on clinical practice is a continuing discussion.