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Abstract：
Minimal/measurable residual disease (MRD) diagnostics using real-time quantitative PCR analysis of rearranged immunoglobulin and T-cell receptor gene rearrangements are nowadays implemented in most treatment protocols for patients with acute lymphoblastic leukemia (ALL). Within the EuroMRD Consortium, we aim to provide comparable, high-quality MRD diagnostics, allowing appropriate risk-group classification for patients and inter-protocol comparisons. To this end, we set up a quality assessment scheme, that was gradually optimized and updated over the last 20 years, and that now includes participants from around 70 laboratories worldwide. We here describe the design and analysis of our quality assessment scheme. In addition, we here report revised data interpretation guidelines, based on our newly generated data and extensive discussions between experts. The main novelty is the partial re-definition of the \"positive below quantitative range\" category by two new categories, \"MRD low positive, below quantitative range\" and \"MRD of uncertain significance\". The quality assessment program and revised guidelines will ensure reproducible and accurate MRD data for ALL patients. Within the Consortium, similar programs and guidelines have been introduced for other lymphoid diseases (e.g., B-cell lymphoma), for new technological platforms (e.g., digital droplet PCR or Next-Generation Sequencing), and for other patient-specific MRD PCR-based targets (e.g., fusion genes).
摘要：
目前，在大多数急性淋巴细胞白血病（ALL）患者的治疗方案中，使用重排的免疫球蛋白和T细胞受体基因重排的实时定量PCR分析进行了最小/可测量的残留疾病（MRD）诊断。在欧洲MRD联盟内，我们的目标是提供可比的，高质量的MRD诊断，允许对患者进行适当的风险组分类和方案间比较。为此,我们建立了一个质量评估计划，在过去的20年里逐渐优化和更新，现在包括来自全球约70个实验室的参与者。我们在这里描述我们的质量评估方案的设计和分析。此外,我们在这里报告修订后的数据解释指南，基于我们新生成的数据和专家之间的广泛讨论。主要的新颖性是由两个新类别对“正低于定量范围”类别进行了部分重新定义，“MRD低阳性，低于定量范围“和”不确定意义的MRD“。质量评估计划和修订后的指南将确保ALL患者的MRD数据可重复且准确。在财团内，针对其他淋巴疾病引入了类似的计划和指南(例如，B细胞淋巴瘤），对于新的技术平台(例如，数字液滴PCR或下一代测序），以及其他基于患者特异性MRDPCR的靶标(例如，融合基因)。
