The Myelodysplastic syndromes (MDS) are a heterogenous group of clonal bone marrow (BM) stem cell myeloid neoplasms, characterized by bone marrow (BM) dysplasia, macrocytic anemia or cytopenia with a tendency for leukemic transformation. The suspicion of MDS is raised by a typical but not specific clinical picture and routine labs, but the gold standard for MDS diagnosis is still BM examination with the presence of uni-or multi-lineage dysplasia and blast percentage, together with exclusion of other reasons. Cytogenetics is also a part of the diagnostic process. Flow cytometry and genetics are helpful but are not always mandatory for MDS diagnosis. This review summarizes the current steps in the diagnostic approach for a patient suspected of having MDS. We also describe new concepts that use non-invasive diagnostic technologies, especially digital methods as well as peripheral blood genetics. The hope is that one day these will mature, be introduced into clinical practice, and perhaps in many cases even replace the invasive BM biopsy.

中文翻译：

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骨髓增生异常综合征的诊断：经典和小说。


骨髓增生异常综合征 （MDS） 是一组异质性克隆骨髓 （BM） 干细胞髓系肿瘤，其特征是骨髓 （BM） 发育不良、大细胞性贫血或血细胞减少，有白血病转化的倾向。典型但不具体的临床表现和常规实验室检查会引起对 MDS 的怀疑，但 MDS 诊断的金标准仍然是 BM 检查，存在单系或多系发育不良和原始细胞百分比，并排除其他原因。细胞遗传学也是诊断过程的一部分。流式细胞术和遗传学是有帮助的，但并不总是 MDS 诊断的强制性要求。本综述总结了疑似 MDS 患者的当前诊断方法步骤。我们还描述了使用无创诊断技术的新概念，尤其是数字方法以及外周血遗传学。希望有一天这些会成熟，被引入临床实践，甚至可能在许多情况下取代侵入性 BM 活检。