本研究讨论了使用液体活检和下一代测序(NGS)检测急性髓细胞性白血病(AML)患者的微小残留病(MRD)的重要性。AML的预后取决于各种因素,包括基因改变.NGS揭示了AML的分子复杂性,并帮助完善了风险分层和个性化治疗。AML患者的长期生存率很低,MRD评估对预测预后至关重要。目前,最常见的MRD检测方法是流式细胞术和定量PCR,但由于NGS能够检测大多数AML患者的基因组畸变,NGS正被纳入临床实践.通常,骨髓样本用于MRD评估,但是使用外周血样本或液体活检的侵入性较小。白血病起源于骨髓,以及从外周血中获得的cfDNA。这项研究旨在评估外周血样品中无细胞DNA(cfDNA)在AML患者中用于MRD检测的实用性。使用NGS分析了20名AML患者的队列,并且观察到通过cfDNA进行的MRD评估与配对样品中的循环肿瘤细胞(CTC)之间的相关性。此外,与CTC相比,在cfDNA中检测到更高的肿瘤信号,表明灵敏度更高。讨论了液体活检在MRD评估中应用的挑战,包括选择合适的标记和某些标记的敏感性。这项研究强调了使用cfDNA进行AML患者MRD检测的液体活检的潜力,并强调了在该领域进一步研究的必要性。
This study discusses the importance of minimal residual disease (MRD) detection in acute myeloid leukemia (AML) patients using liquid biopsy and next-generation sequencing (
NGS). AML prognosis is based on various factors, including genetic alterations.
NGS has revealed the molecular complexity of AML and helped refine risk stratification and personalized therapies. The long-term survival rates for AML patients are low, and MRD assessment is crucial in predicting prognosis. Currently, the most common methods for MRD detection are flow cytometry and quantitative PCR, but
NGS is being incorporated into clinical practice due to its ability to detect genomic aberrations in the majority of AML patients. Typically, bone marrow samples are used for MRD assessment, but using peripheral blood samples or liquid biopsies would be less invasive. Leukemia originates in the bone marrow, along with the cfDNA obtained from peripheral blood. This study aimed to assess the utility of cell-free DNA (cfDNA) from peripheral blood samples for MRD detection in AML patients. A cohort of 20 AML patients was analyzed using
NGS, and a correlation between MRD assessment by cfDNA and circulating tumor cells (CTCs) in paired samples was observed. Furthermore, a higher tumor signal was detected in cfDNA compared to CTCs, indicating greater sensitivity. Challenges for the application of liquid biopsy in MRD assessment were discussed, including the selection of appropriate markers and the sensitivity of certain markers. This study emphasizes the potential of liquid biopsy using cfDNA for MRD detection in AML patients and highlights the need for further research in this area.