OBJECTIVE The aim of this study was to evaluate the diagnostic and prognostic role of multiparameter flow cytometry (FC) in patients with idiopathic cytopenia of undetermined significance (ICUS) and clonal cytopenia of undetermined significance (CCUS). METHODS We performed FC using a standardized panel and two different diagnostic algorithms (Ogata, Wells) in a well-characterized cohort of 79 patients with ICUS/CCUS and compared it with a retrospective blinded morphological evaluation and data from targeted next-generation DNA sequencing of 20 myelodysplastic syndrome (MDS)-related genes. RESULTS Our data show that FC has low sensitivity in distinguishing CCUS from ICUS patients (40.5% for Ogata score and 59.5% for Wells score). The Wells score was suggestive of dysplasia in ICUS/CCUS patients with concurrent morphological signs of dysplasia in the bone marrow (following re-evaluation by two hematopathologists) and in CCUS patients with a higher mutational burden. Eight patients with ICUS/CCUS from our cohort progressed to another myeloid malignancy (MDS, acute myeloid leukemia, or chronic myelomonocytic leukemia), all showing flow cytometric signs of dysplasia. CONCLUSION FC performs poorly in diagnosing CCUS versus ICUS. However, it can potentially provide prognostic information in cytopenic patients by identifying a subgroup of patients with a higher grade of dysplasia, higher mutational burden, and higher risk of progression and, together with mutational screening, also identify a group of patients who might require morphological reassessment of dysplastic changes in their bone marrow.

中文翻译：

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流式细胞术在意义未明的特发性和克隆性血细胞减少症 (ICUS/CCUS) 中的诊断和预后作用：79 名患者的单中心分析。


目的 本研究的目的是评估多参数流式细胞术（FC）对意义不明的特发性血细胞减少症（ICUS）和意义不明的克隆性血细胞减少症（CCUS）患者的诊断和预后作用。方法 我们使用标准化面板和两种不同的诊断算法（Ogata、Wells）在 79 名 ICUS/CCUS 患者的特征明确的队列中进行 FC，并将其与回顾性盲法形态学评估和来自靶向下一代 DNA 测序的数据进行比较。 20 个骨髓增生异常综合征 (MDS) 相关基因。结果我们的数据显示，FC 在区分 CCUS 和 ICUS 患者方面敏感性较低（Ogata 评分为 40.5%，Wells 评分为 59.5%）。 Wells评分提示ICUS/CCUS患者存在骨髓不典型增生的形态学症状（经两名血液病理学家重新评估），以及突变负荷较高的CCUS患者存在不典型增生。我们队列中的 8 名 ICUS/CCUS 患者进展为另一种髓系恶性肿瘤（MDS、急性髓系白血病或慢性粒单核细胞白血病），所有患者均显示出不典型增生的流式细胞术征象。结论 与 ICUS 相比，FC 在诊断 CCUS 方面表现较差。然而，它可以通过识别具有较高级别不典型增生、较高突变负荷和较高进展风险的患者亚组来潜在地提供血细胞减少患者的预后信息，并且与突变筛查一起，还可以识别一组可能需要形态学检查的患者。重新评估骨髓的发育不良变化。