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).

如今，大多数急性淋巴细胞白血病 (ALL) 患者的治疗方案均采用对重排免疫球蛋白和 T 细胞受体基因重排进行实时定量 PCR 分析的微小/可测量残留病 (MRD) 诊断。在 EuroMRD 联盟内，我们的目标是提供可比较的、高质量的 MRD 诊断，从而对患者进行适当的风险组分类和方案间比较。为此，我们制定了质量评估方案，并在过去 20 年中逐步优化和更新，目前包括来自全球约 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，我们在此报告根据我们新生成的数据和专家之间的广泛讨论修订的数据解释指南。主要新颖之处是通过两个新类别“MRD低阳性，低于定量范围”和“意义不确定的MRD”对“低于定量范围的阳性”类别进行了部分重新定义。质量评估计划和修订后的指南将确保所有患者的 MRD 数据可重复且准确。在联盟内，针对其他淋巴疾病（例如 B 细胞淋巴瘤）、新技术平台（例如数字液滴 PCR 或下一代测序）以及其他患者特异性 MRD PCR 也引入了类似的计划和指南。基于目标（例如，融合基因）。