Department of Cellular Pathology, The Royal London Hospital, London, UK.
Department of Pathology, Paul L. Foster School of Medicine, Texas Tech University Health Sciences Center, El Paso, TX, USA.
Best Pract Res Clin Haematol. 2020 Jun;33(2):101139. doi: 10.1016/j.beha.2019.101139. Epub 2019 Dec 26.
The term myelodysplastic/myeloproliferative neoplasm (MDS/MPN) refers to a group of clonal hematopoietic neoplasms with overlapping clinical, morphologic and genetic myelodysplastic and myeloproliferative features observed at the time of first presentation. Impaired hematopoiesis morphologically associated with evidence of myelodysplasia manifests clinically with cytopenia/s. Simultaneously, myeloproliferation is seen within the bone marrow and leads to cytosis in the peripheral blood. The diagnostic category of MDS/MPN encompasses a heterogeneous group of diseases which share similarities among them, but at the same time have distinct clinical and pathologic features and eventually diverse prognosis; such differences justify their separation in a classification scheme. In the era of genetic and genomic tests, their distinction from conventional myelodysplastic syndromes or myeloproliferative neoplasms still relies on close clinocopathological correlation, with evaluation of both peripheral blood and bone marrow samples being essential in this sense. A multiparametric integration of clinicopathologic data and cytogenetics and molecular genetics results is the preferred diagnostic approach.
骨髓增生异常/骨髓增殖性肿瘤（MDS/MPN）这一术语是指一组克隆性造血肿瘤，在初次表现时具有重叠的临床、形态学和遗传学的骨髓增生异常和骨髓增殖性特征。形态学上与骨髓增生异常相关的造血功能受损在临床上表现为血细胞减少症。同时，骨髓内出现骨髓增殖，并导致外周血中的细胞增多。MDS/MPN 的诊断类别包括一组异质性疾病，它们之间存在相似之处，但同时具有明显的临床和病理特征，最终具有不同的预后；这些差异证明了它们在分类方案中的分离是合理的。在基因和基因组测试时代，它们与传统的骨髓增生异常综合征或骨髓增殖性肿瘤的区别仍然依赖于密切的临床病理相关性，评估外周血和骨髓样本在这方面是必不可少的。对临床病理数据和细胞遗传学及分子遗传学结果进行多参数整合是首选的诊断方法。
