Hematology Department, University Hospital Reina Sofia, Cordoba, Spain.
Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Córdoba, Spain.
Expert Rev Hematol. 2023 Apr;16(4):277-287. doi: 10.1080/17474086.2023.2193322. Epub 2023 Mar 29.
Acute myeloid leukemia (AML) is a heterogeneous disease currently including 12 entities defined by genetic findings with remarkable differences in prognosis and targeted therapies availability. Therefore, identification of genetic abnormalities by efficient techniques has become a necessary tool in routine clinical practice for AML patients.
In the present review, we will focus on our current knowledge of relevant prognosis gene mutations in AML, as recently updated by European Leukemia Net Leukemia risk classification.
About 25% of newly diagnosed younger AML patients will be promptly classified as favorable prognosis by demonstrating the presence of mutations or CBF rearrangements by qRTPCR, allowing for implementing molecular measurable residual disease-guided chemotherapy-based protocols. In fit AML patients, rapid detection of ITD is mandatory to associate midostaurin or quizartinib to treatment and assignment to intermediate prognosis. Conventional cytogenetics and FISH still have a role for detection adverse prognosis karyotypes and gene rearrangements. Further genetic characterization is performed with NGS panels including favorable prognosis gene CEBPA bZIP and adverse prognosis genes, such as and myelodysplasia associated genes.
急性髓系白血病(AML)是一种异质性疾病,目前包括 12 种基于遗传学发现定义的实体,其在预后和靶向治疗的可用性方面存在显著差异。因此,通过高效技术识别遗传异常已成为 AML 患者常规临床实践中的必要工具。
在本综述中,我们将重点关注欧洲白血病网白血病风险分类最近更新的 AML 中相关预后基因突变的现有知识。
大约 25%的新诊断年轻 AML 患者将通过 qRTPCR 显示突变或 CBF 重排,被迅速归类为预后良好,从而可以实施基于分子可测量残留疾病指导的化疗方案。在适合治疗的 AML 患者中,必须快速检测 ITD,以便将 midostaurin 或 quizartinib 联合治疗,并将其分配到中等预后。常规细胞遗传学和 FISH 仍然可以检测不良预后核型和基因重排。通过包括有利预后基因 CEBPA bZIP 和不利预后基因(如 和与骨髓增生异常相关的基因)的 NGS 面板进行进一步的遗传特征分析。