Department of Hematology, Cancer Center Amsterdam, Amsterdam UMC, VUMC, Amsterdam, The Netherlands; and.
Department of Medical and Molecular Genetics, King's College, London, United Kingdom.
Hematology Am Soc Hematol Educ Program. 2019 Dec 6;2019(1):617-625. doi: 10.1182/hematology.2019000006.
Risk classification and tailoring of treatment are essential for improving outcome for patients with acute myeloid leukemia or high-risk myelodysplastic syndrome. Both patient and leukemia-specific characteristics assessed using morphology, cytogenetics, molecular biology, and multicolor flow cytometry are relevant at diagnosis and during induction, consolidation, and maintenance phases of the treatment. In particular, minimal residual disease (MRD) during therapy has potential as a prognostic factor of outcome, determination of response to therapy, and direction of targeted therapy. MRD can be determined by cell surface markers using multicolor flow cytometry, whereas leukemia-specific translocations and mutations are measured using polymerase chain reaction-based techniques and recently using next-generation sequencing. All these methods of MRD detection have their (dis)advantages, and all need to be standardized, prospectively validated, and improved to be used for uniform clinical decision making and a potential surrogate end point for clinical trials testing novel treatment strategies. Important issues to be solved are time point of MRD measurement and threshold for MRD positivity. MRD is used for stem cell transplantation (SCT) selection in the large subgroup of patients with an intermediate risk profile. Patients who are MRD positive will benefit from allo-SCT. However, MRD-negative patients have a better chance of survival after SCT. Therefore, it is debated whether MRD-positive patients should be extensively treated to become MRD negative before SCT. Either way, accurate monitoring of potential residual or upcoming disease is mandatory. Tailoring therapy according to MRD monitoring may be the most successful way to provide appropriate specifically targeted, personalized treatment.
风险分类和治疗方案的制定对于改善急性髓系白血病或高危骨髓增生异常综合征患者的预后至关重要。在诊断时以及治疗的诱导、巩固和维持阶段,使用形态学、细胞遗传学、分子生物学和多色流式细胞术评估的患者和白血病特异性特征都很重要。特别是治疗期间的微小残留病(MRD)有作为预后因素、确定对治疗的反应以及指导靶向治疗的潜力。MRD 可以通过多色流式细胞术使用细胞表面标志物来确定,而白血病特异性易位和突变则使用聚合酶链反应(PCR)技术和最近的下一代测序(NGS)来测量。所有这些 MRD 检测方法都有其(优缺点),并且都需要标准化、前瞻性验证和改进,以便用于统一的临床决策和潜在的临床试验替代终点,以测试新的治疗策略。需要解决的重要问题是 MRD 测量的时间点和 MRD 阳性的阈值。MRD 用于选择具有中等风险特征的大亚组患者进行干细胞移植(SCT)。MRD 阳性的患者将受益于同种异体 SCT。然而,MRD 阴性的患者在 SCT 后有更好的生存机会。因此,MRD 阳性患者是否应该接受广泛治疗以在 SCT 前转为 MRD 阴性存在争议。无论哪种方式,都必须准确监测潜在的残留或即将发生的疾病。根据 MRD 监测来调整治疗方案可能是提供适当的、有针对性的个体化治疗的最成功方法。