骨髓增生异常综合征的病理诊断不一致及其对登记册和治疗的影响。
Discordant Pathologic Diagnoses of Myelodysplastic Neoplasms and Their Implications for Registries and Therapies.
发表日期：2023 Aug 08
作者：
Edward Gorak, Michael Otterstatter, Tareq Al Baghdadi, Nancy Gillis, James M Foran, Jane Jijun Liu, Rafael Bejar, Steven D Gore, Steven H Kroft, Alexandra M Harrington, Wael Saber, Daniel T Starczynowski, Dana E Rollison, Ling Zhang, Lynn C Moscinski, Steffanie H Wilson, Jason Thompson, Christine Borchert, Seth Sherman, Donnie Hebert, Mary Ellen Walker, Eric Padron, Amy DeZern, Mikkael A Sekeres
来源：
Blood Advances
摘要：
骨髓增生异常综合症（MDS）是一组具有广泛可变预后和治疗选择的造血系统疾病。由于观察者之间对形态学解释和畸形计量的一致性存在变异性，准确的病理诊断具有挑战性。我们比较了当前国家心肺血液研究所正在进行的国家MDS自然病程研究（NCT02775383）中918名参与者的当地临床诊断与中心审核的结果。该研究是一项前瞻性观察性队列研究，研究对象为疑似MDS或MDS/白血病增生性疾病（MPN）的参与者。当地诊断结果显示，264例（29%）被诊断为MDS，15例（2%）为MDS/MPN重叠，62例（7%）为原发性未确定意义的细胞减少（ICUS），0例（0%）为30%以下的急性髓系白血病（AML），以及577例（63%）为其他诊断。在中心审查的结果中，约三分之一的案例进行了重新分类，其中266例（29%）被诊断为MDS，45例（5%）为MDS/MPN重叠，49例（5%）为ICUS，15例（2%）为小于30%的AML，以及543例（59%）为其他诊断。在当地诊断中，超过一半（53%）的错误是由于诊断编码错误造成的，导致真实的误诊率总体上为15%，MDS的误诊率为21%。有37%的患者报告接受了治疗，其中包括MDS患者的43%，MDS/MPN患者的49%，以及AML < 30%患者的86%。与当地和中心诊断一致的案例相比，诊断存在真实不一致的案例中的治疗率较低（25%），而错误诊断的案例中有7%接受了不适当的治疗。不一致的诊断频繁发生，这对于研究相关和国家登记的准确性具有重要影响，并可能导致不适当的治疗。Copyright © 2023 American Society of Hematology.
Myelodysplastic neoplasms (MDS) are a collection of hematopoietic disorders with widely variable prognoses and treatment options. Accurate pathologic diagnoses present challenges due to interobserver variability in interpreting morphology and quantifying dysplasia. We compared local clinical site diagnoses with central, adjudicated review from 918 participants enrolled in the ongoing National Heart, Lung, and Blood Institute National MDS Natural History Study (NCT02775383), a prospective observational cohort study of participants with suspected MDS or MDS/myeloproliferative neoplasms (MPNs). Locally, 264 (29%) were diagnosed as having MDS, 15 (2%) MDS/MPN overlap, 62 (7%) idiopathic cytopenia of undetermined significance (ICUS), 0 (0%) acute myeloid leukemia (AML) with <30% blasts, and 577 (63%) other. Approximately one-third of cases were reclassified following central review with 266 (29%) diagnosed as MDS, 45 (5%) MDS/MPN overlap, 49 (5%) ICUS, 15 (2%) AML <30%, and 543 (59%) other. Site miscoding errors accounted for over half (53%) of the local misdiagnoses, leaving a true misdiagnosis rate of 15% overall, 21% for MDS. Therapies were reported in 37% of patients, including 43% of patients with MDS, 49% of MDS/MPN, and 86% of AML <30% blasts. Treatment rates were lower (25%) in cases with true discordance in diagnosis compared to those where local and central diagnoses agreed (40%), and receipt of inappropriate therapy occurred in 7% of misdiagnosed cases. Discordant diagnoses were frequent, which has implications for the accuracy of study-related and national registries and can lead to inappropriate therapy.Copyright © 2023 American Society of Hematology.