通过下一代测序（NGS）进行突变分析有助于了解急性髓系白血病（AML）的分子发病机制，并已纳入新的疾病分类（国际共识分类；ICC）和风险分类（欧洲白血病网[ELN]） 2022；ELN2022）。我们比较了我们机构诊断的 91 名 AML 患者的先前疾病分类（WHO 分类第四版；WHO-4）和 ICC 之间的疾病亚型。我们还使用之前的风险分类 (ELN2017) 和 ELN2022 比较了疾病风险分类。京都大学对骨髓样本进行了靶向测序。我们发现，具有复发性基因异常的 AML 实体已得到确认，从 WHO-4 到 ICC 几乎没有变化。相比之下，根据 ICC，WHO-4 中未另行指定的 AML 病例中有 16.7% 被重新分类为具有 TP53 突变的 AML，而 36.7% 则被重新分类为具有骨髓增生异常相关基因突变或细胞遗传学异常的 AML。同时，ELN2017和ELN2022在无进展生存期和总生存期的多变量Cox回归分析中显示一致性指数没有差异。我们的单中心回顾性研究无法证实 ELN2022 相对于 ELN2017 的优越性，需要进一步研究，包括多中心前瞻性研究。© 2024。日本血液学会。

Mutation profiling by next-generation sequencing (NGS) has facilitated understanding of the molecular pathogenesis of acute myeloid leukemia (AML), and has been incorporated into the new disease classification (International Consensus Classification; ICC) and risk classification (European LeukemiaNet [ELN] 2022; ELN2022). We compared disease subtypes between the previous disease classification (4th edition of the WHO classification; WHO-4) and the ICC in 91 patients with AML diagnosed at our institution. We also compared disease risk classifications using the previous risk classification (ELN2017) and the ELN2022. Targeted sequencing of bone marrow samples was conducted at Kyoto University. We found that entities under AML with recurrent genetic abnormalities were well-established, with almost no change from the WHO-4 to the ICC. In contrast, 16.7% of cases of AML, not otherwise specified in the WHO-4 were reclassified into AML with mutated TP53, and 36.7% were reclassified into AML with myelodysplasia-related gene mutations or cytogenetic abnormalities per the ICC. Meanwhile, the ELN2017 and ELN2022 showed no difference in concordance indexes in multivariate Cox regression analysis for progression-free and overall survival. The superiority of the ELN2022 over the ELN2017 could not be confirmed in our single-center retrospective study, and further investigation including multicenter prospective studies is needed.© 2024. Japanese Society of Hematology.