Department of Leukemia, UT MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX, 77030, USA.
Division of Cancer Medicine, MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX, 77030, USA.
Curr Hematol Malig Rep. 2019 Oct;14(5):386-394. doi: 10.1007/s11899-019-00535-7.
Awareness of the molecular landscape of AML has improved AML care over the last 5 years. This review summarizes updates regarding the diagnostic and therapeutic relevance of key mutations in AML.
Molecular mutations in genes including NPM1, CEBPA, FLT3, IDH1/2, TP53, RUNX1, and ASXL1 provide important prognostic and/or therapeutic information in AML, including best treatment strategies, transplant recommendations, and significance of MRD detection. Mutational analysis has led to the recognition of new entities including hereditary leukemia syndromes and clonal hematopoiesis of indeterminate potential (CHIP). FLT3 and IDH1/2 mutations are the focus of targeted therapies in the treatment of AML. Advances in the molecular characterization of AML have provided an improved understanding of leukemogenesis and AML risk stratification, improved disease monitoring techniques, optimized therapeutic strategies, and have led to the development of novel molecular-targeted therapeutics. Ongoing genomic advances will continue to improve upon the outcome of patients with AML.
在过去的 5 年中，人们对 AML 的分子特征的认识提高了 AML 的治疗水平。本综述总结了 AML 中关键突变的诊断和治疗相关性的最新进展。
包括 NPM1、CEBPA、FLT3、IDH1/2、TP53、RUNX1 和 ASXL1 在内的基因中的分子突变在 AML 中提供了重要的预后和/或治疗信息，包括最佳治疗策略、移植建议以及 MRD 检测的意义。突变分析导致了新实体的识别，包括遗传性白血病综合征和不确定潜能的克隆性造血（CHIP）。FLT3 和 IDH1/2 突变是 AML 靶向治疗的重点。AML 的分子特征的进展提供了对白血病发生和 AML 风险分层的更好理解、改善了疾病监测技术、优化了治疗策略，并导致了新型分子靶向治疗的发展。正在进行的基因组学进展将继续改善 AML 患者的预后。
