Butler John T, Yashar William M, Swords Ronan
Radiation Medicine and Applied Science, Moores Cancer Center, University of California San Diego, La Jolla, California, USA.
Knight Cancer Institute, Oregon Health & Science University, Portland, Oregon, USA.
Am J Hematol. 2025 Apr;100(4):638-651. doi: 10.1002/ajh.27586. Epub 2025 Jan 7.
Acute myeloid leukemia (AML) is a genetically heterogeneous disease with high rates of relapse after initial treatment. Identifying measurable residual disease (MRD) following initial therapy is essential to assess response, predict patient outcomes, and identify those in need of additional intervention. Currently, MRD analysis relies on invasive, serial bone marrow (BM) biopsies, which complicate sample availability and processing time and negatively impact patient experience. Additionally, finding a positive result can generate more questions than answers, causing anxiety for both the patient and the provider. Peripheral blood (PB) evaluation has shown promise in detecting MRD and is now recommended by the European Leukemia Net for AML for certain genetic abnormalities. PB-based sampling allows for more frequent testing intervals and better temporal resolution of malignant expansion while sparing patients additional invasive procedures. In this review, we will discuss the current state of PB testing for MRD evaluation with a focus on next-generation sequencing methodologies that are capable of MRD detection across AML subtypes.
急性髓系白血病(AML)是一种基因异质性疾病,初始治疗后复发率很高。识别初始治疗后的可测量残留病(MRD)对于评估反应、预测患者预后以及确定需要额外干预的患者至关重要。目前,MRD分析依赖于侵入性的系列骨髓(BM)活检,这使样本获取和处理时间变得复杂,并对患者体验产生负面影响。此外,获得阳性结果可能产生的问题比答案更多,给患者和医疗人员都带来焦虑。外周血(PB)评估在检测MRD方面已显示出前景,欧洲白血病网现在针对某些基因异常的AML推荐进行PB评估。基于PB的采样允许更频繁的检测间隔以及更好地对恶性细胞扩增进行时间分辨率分析,同时避免患者接受额外的侵入性操作。在本综述中,我们将讨论用于MRD评估的PB检测的现状,重点关注能够检测所有AML亚型MRD的新一代测序方法。