欧洲白血病网（ELN）量化残留病程（MRD）工作组已公布共识指南，以规范t（8；21）（q22；q22.1）RUNX1::RUNX1T1，inv（16）（p13.1q22）CBFB::MYH11，t（15 ;17）（q24.1;q21.2）PML：RARA和NPM1 A型标记的分子遗传学MRD检测。一个涵盖29个国际实验室的研究，评估了测试的实验室之间的变异性和结果的解释，这两个因素对患者安全至关重要。本研究的大多数参与者能够正确检测、准确量化和正确解释MRD测试结果，达到临床试验或标准护理环境所期望的熟练程度。然而，发现了一些测试和解释错误，这在患者环境中会导致患者结果的错误分类和随之而来的不恰当治疗途径。值得注意的是，在NPM1标记阴性样品中，高比例的参与者报告了假阳性结果。假阳性结果的临床后果可能会使患者承受不必要的额外化疗和/或移植的风险，进而导致发病率和死亡率的增加，因此凸显了在这一领域需要持续进行外部质量评估（EQA）/熟练测试（PT）。研究中发现的大多数错误与结果的解释有关。注意到ELN指南缺乏对某些临床情况的明确规定，并强调需要紧急修订指南以阐明这些问题，并以与修订相关的教育努力确保有效的传播。版权所有© 2023美国血液学协会。

The European LeukaemiaNet (ELN) measurable residual disease (MRD) working group have published consensus guidelines to standardise molecular genetic MRD testing of the t(8;21)(q22;q22.1) RUNX1::RUNX1T1, inv(16)(p13.1q22) CBFB::MYH11, t(15;17)(q24.1;q21.2) PML::RARA and NPM1 type A markers. A study featuring 29 international laboratories was performed to assess interlaboratory variation of testing, and the subsequent interpretation of results, both crucial to patient safety. The majority of participants in this study were able to detect, accurately quantify and interpret MRD testing results correctly, with a level of proficiency expected from a clinical trial or standard of care setting. However, a number of testing and interpretive errors were identified that in a patient setting would have led to misclassification of patient outcomes and inappropriate treatment pathways being followed. Of note, a high proportion of participants reported false positive results in the NPM1 marker negative sample. False positive results may have consequences clinically, committing patients to unneeded additional chemotherapy and/or transplant with the attendant risk of morbidity and mortality, and therefore highlights the need for ongoing external quality assessment (EQA)/proficiency testing (PT) in this area. Most errors identified in the study were related to the interpretation of results. It was noted that the ELN guidance lacks clarity for certain clinical scenarios and highlights the requirement for urgent revision of the guidelines to elucidate these issues, and related educational efforts around the revisions to ensure effective dissemination.Copyright © 2023 American Society of Hematology.