Prakash Sonam, Arber Daniel A, Bueso-Ramos Carlos, Hasserjian Robert P, Orazi Attilio
Department of Laboratory Medicine, University of California, San Francisco, CA, USA.
Department of Pathology, University of Chicago, Chicago, IL, USA.
Virchows Arch. 2023 Jan;482(1):69-83. doi: 10.1007/s00428-022-03465-7. Epub 2022 Dec 5.
The myelodysplastic syndrome/myeloproliferative neoplasms (MDS/MPN) category includes a heterogeneous group of diseases characterized by the co-occurrence of clinical and pathologic features of both myelodysplastic and myeloproliferative neoplasms. The recently published International Consensus Classification of myeloid neoplasms revised the entities included in the MDS/MPN category as well as criteria for their diagnosis. In addition to the presence of one or more increased peripheral blood cell counts as evidence of myeloproliferative features, concomitant cytopenia as evidence of ineffective hematopoiesis is now an explicit requirement to diagnose the diseases included in this category. The increasing availability of modern gene sequencing has allowed better understanding of the biologic characteristics of these myeloid neoplasms. The presence of specific mutations in the appropriate clinicopathologic context is now included in the diagnostic criteria for some of MDS/MPN entities. In this review, we highlight what has changed in the diagnostic criteria of MDS/MPN from the WHO 2016 classification while providing practical guidance in diagnosing these diseases.
骨髓增生异常综合征/骨髓增殖性肿瘤（MDS/MPN）类别包括一组异质性疾病，其特征是同时出现骨髓增生异常和骨髓增殖性肿瘤的临床和病理特征。最近发布的髓系肿瘤国际共识分类修订了MDS/MPN类别中包含的实体及其诊断标准。除了存在一种或多种外周血细胞计数增加作为骨髓增殖特征的证据外，同时存在血细胞减少作为无效造血的证据现在是诊断该类别中所包括疾病的明确要求。现代基因测序技术的日益普及使得人们能够更好地了解这些髓系肿瘤的生物学特征。在适当的临床病理背景下特定突变的存在现在已纳入一些MDS/MPN实体的诊断标准中。在本综述中，我们重点介绍了自世界卫生组织2016年分类以来MDS/MPN诊断标准的变化，同时为这些疾病的诊断提供实用指导。
