Karolinska Institutet, Department of Medicine, Division of Hematology, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Blood Rev. 2010 Mar;24(2):83-90. doi: 10.1016/j.blre.2010.01.002. Epub 2010 Feb 19.
The pathogenesis of myelodysplastic syndromes involves a pattern of genetic, epigenetic, and immune-mediated mechanisms but little is known about what causes the specific disease features and promotes disease progression in the individual patient. The identification of JAK2 and MPL mutations, and more recently TET2, CBL and ASXL-1 mutations in these disorders provide a basis for increased understanding of disease biology and mechanisms behind progression. Such mutations are more commonly found in patients with a significant amount of marrow ring sideroblasts, and in patients belonging to the category of mixed myelodysplastic/myeloproliferative neoplasms, entities which are in focus for this review.
骨髓增生异常综合征的发病机制涉及遗传、表观遗传和免疫介导的机制，但对于导致特定疾病特征以及促进个体患者疾病进展的原因知之甚少。这些疾病中 JAK2 和 MPL 突变的鉴定，以及最近 TET2、CBL 和 ASXL-1 突变的鉴定，为增加对疾病生物学和进展背后机制的理解提供了依据。此类突变在大量骨髓环形铁幼粒细胞的患者中以及在混合性骨髓增生异常/骨髓增殖性肿瘤患者中更为常见，这些实体是本次综述的重点。
