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.
急性髓系白血病（AML）的分子异质性，尤其是在恶性细胞保持正常核型的情况下，其综合分析已取得显著进展。2022年，世界卫生组织（WHO）分类及欧洲白血病网（ELN）发布的急性髓系白血病（AML）指南均进行了重要修订。这些修订恰逢首版国际共识分类（ICC）的推出。这些更新旨在通过全面整合复杂的遗传学与临床参数，以改善诊断与治疗效果，并促进创新临床试验的开展。关键更新包括对AML诊断原始细胞计数标准的调整：WHO 2022分类规定，若存在AML定义性异常，则取消≥20%原始细胞的要求；而ICC 2022分类对复发性遗传异常设定了10%的阈值。此外，新增了如伴TP53突变的AML及骨髓增生异常综合征/急性髓系白血病（MDS/AML）等类别。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，从而推动了新一代测序（NGS）和流式细胞术检测的应用。这些修订突显了精准分类对于靶向治疗策略及改善患者预后的重要性。这些分类体系之间的差异与一致性程度，及其对临床实践的影响，仍是持续讨论的焦点。
肿瘤(癌症)患者之家