Abstract Myelodysplastic neoplasms (MDS) are a collection of hematopoietic disorders with widely variable prognoses and treatment options. Accurate pathologic diagnoses present challenges because of 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, 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%) as other. Approximately one-third of cases were reclassified after central review, with 266 (29%) diagnosed as MDS, 45 (5%) MDS/MPN overlap, 49 (5%) ICUS, 15 (2%) AML with <30%, and 543 (59%) as other. Site miscoding errors accounted for more than 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 patients with MDS/MPN, and 86% of patients with AML with <30% blasts. Treatment rates were lower (25%) in cases with true discordance in diagnosis compared with those for whom 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. This trial was registered at www.clinicaltrials.gov as #NCT05074550.

中文翻译：

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骨髓增生异常肿瘤的不一致病理诊断及其对登记和治疗的影响

摘要骨髓增生异常肿瘤（MDS）是一系列造血系统疾病，其预后和治疗方案差异很大。由于观察者之间在解释形态和量化不典型增生方面存在差异，准确的病理诊断面临着挑战。我们将当地临床中心的诊断与来自 918 名参与正在进行的国家心肺血液研究所国家 MDS 自然历史研究的参与者的中央裁决审查进行了比较，该研究是一项针对疑似 MDS 或 MDS/骨髓增殖性肿瘤 (MPN) 参与者的前瞻性观察队列研究。当地，264 例 (29%) 被诊断为 MDS，15 例 (2%) 例 MDS/MPN 重叠，62 例 (7%) 意义未明的特发性血细胞减少症 (ICUS)，0 例 (0%) 急性髓系白血病 (AML) 患有 << ；30% 为母细胞，577 例（63%）为其他。大约三分之一的病例在集中审查后被重新分类，其中 266 例 (29%) 被诊断为 MDS，45 例 (5%) MDS/MPN 重叠，49 例 (5%) ICUS，15 例 (2%) AML <30% ，543 (59%) 为其他。站点误码错误占局部误诊的一半以上（53%），总体真实误诊率为 15%，MDS 为 21%。37％的患者报告了治疗，包括43％的MDS患者、49％的MDS/MPN患者和86％的原始细胞＜30％的AML患者。与当地和中心诊断一致的病例（40%）相比，诊断真正不一致的病例的治疗率较低（25%），并且7%的误诊病例中接受了不适当的治疗。不一致的诊断很常见，这对研究相关和国家登记的准确性产生影响，并可能导致不适当的治疗。该试验在 www.clinicaltrials.gov 上注册为#NCT05074550。