a Tettamanti Research Center, Department of Pediatrics , University of Milano Bicocca , Monza , Italy.
Expert Rev Mol Diagn. 2017 Nov;17(11):953-963. doi: 10.1080/14737159.2017.1377073. Epub 2017 Sep 21.
Acute lymphoblastic leukemia (ALL) is the first neoplasm where the assessment of early response to therapy by minimal residual disease (MRD) monitoring has proven to be a fundamental tool for guiding therapeutic choices. In recent years, thanks to real-time quantitative PCR (qPCR), MRD monitoring has further achieved higher levels of sensitivity and standardization. However, some outstanding issues still remain to be addressed and emerging technologies hold the promise of improving MRD detection in ALL patients. Areas covered: Through a comprehensive review of the literature, we analyze the state-of-the-art of molecular MRD assessment in ALL to better understand how, in the upcoming years, some of its limitations could be tackled by emerging molecular technologies. Furthermore, we highlight the future role of molecular MRD monitoring in the context of personalized protocols, taking into account the growing genetic complexity in ALL. Expert commentary: Although new molecular technologies are promising tools for MRD assessment, qPCR still remains the gold standard for evaluating MRD in ALL. High-throughput sequencing and droplet digital PCR allow to identify new prognostic factors and/or MRD targets at diagnosis and to perform earlier MRD evaluations, thereby optimizing patient stratification and earlier MRD-based clinical intervention to improve ALL patient outcomes.
急性淋巴细胞白血病 (ALL) 是首个通过微小残留病灶 (MRD) 监测评估早期治疗反应被证明是指导治疗选择的基本工具的肿瘤。近年来,实时定量聚合酶链反应 (qPCR) 使 MRD 监测的灵敏度和标准化程度进一步提高。然而,仍有一些悬而未决的问题需要解决,新兴技术有望改善 ALL 患者的 MRD 检测。
通过对文献的全面回顾,我们分析了 ALL 中分子 MRD 评估的最新技术,以更好地了解在未来几年中,一些新兴的分子技术如何能够解决其局限性。此外,我们还强调了分子 MRD 监测在个性化方案背景下的未来作用,同时考虑到 ALL 中遗传复杂性的不断增加。
虽然新的分子技术是评估 MRD 的有前途的工具,但 qPCR 仍然是 ALL 中评估 MRD 的金标准。高通量测序和液滴数字 PCR 可在诊断时识别新的预后因素和/或 MRD 靶点,并进行更早的 MRD 评估,从而优化患者分层和更早基于 MRD 的临床干预,以改善 ALL 患者的预后。