[Appropriate use of the ELN guidelines based on results of real-world genetic analysis in Japanese patients with AML].

Satoshi Wakita
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Abstract

Researchers in the field of acute myeloid leukemia have long sought to establish a prognostic stratification system for clinical use that combines multiple genetic mutations. In 2022, the European LeukemiaNet (ELN) proposed a new prognostic model incorporating new genetic mutations. However, Japanese National Health insurance only recently began covering clinical genetic analysis for AML. We established the Multi-center Collaborative Program for Gene Sequencing of Japanese AML (GS-JAML) to contribute to clinical practice by providing rapid genetic analysis results. Retrospective analysis of this research program revealed (1) the clinical significance of CEBPA-bZIP mutations, and (2) the clinical significance of DNMT3A mutations in NPM1 mutated AML.

[根据日本急性髓细胞性白血病患者的实际基因分析结果合理使用 ELN 指南]。
长期以来,急性髓性白血病领域的研究人员一直在寻求建立一个结合多种基因突变的预后分层系统,供临床使用。2022 年,欧洲白血病网络(ELN)提出了一种结合新基因突变的新预后模型。然而,日本国民健康保险最近才开始覆盖急性髓细胞白血病的临床基因分析。我们建立了日本急性髓细胞性白血病基因测序多中心合作计划(GS-JAML),通过提供快速的基因分析结果,为临床实践做出贡献。对该研究项目的回顾性分析表明:(1) CEBPA-bZIP 突变具有临床意义;(2) DNMT3A 突变在 NPM1 突变 AML 中具有临床意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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