Cambridge Institute for Medical Research and Department of Haematology, University of Cambridge, Hills Road, Cambridge CB2 0XY, UK.
Hematol Oncol Clin North Am. 2012 Oct;26(5):993-1015. doi: 10.1016/j.hoc.2012.07.003. Epub 2012 Aug 28.
The chronic myeloproliferative neoplasms (MPNs) are clonal disorders characterized by overproduction of mature myeloid cells. They share associations with molecular abnormalities such as the JAK2V617F mutation but are distinguished by important phenotypic differences. This review first considers the factors that may influence phenotype in JAK2-mutated MPNs, especially polycythemia vera (PV) and essential thrombocythemia (ET), and then discusses the mutations implicated in JAK2-negative MPNs such as in MPL and epigenetic regulators. Current evidence supports a model where ET and PV are disorders of relatively low genetic complexity, whereas evolution to myelofibrosis or blast-phase disease reflects accumulation of a higher mutation burden.
慢性骨髓增殖性肿瘤（MPNs）是一种以成熟髓系细胞过度生成为特征的克隆性疾病。它们与分子异常相关，如 JAK2V617F 突变，但在表型上有显著差异。这篇综述首先考虑了可能影响 JAK2 突变 MPN 表型的因素，特别是原发性骨髓纤维化（PV）和特发性血小板增多症（ET），然后讨论了 JAK2 阴性 MPN 中涉及的突变，如 MPL 和表观遗传调节剂。目前的证据支持这样一种模式，即 ET 和 PV 是遗传复杂性相对较低的疾病，而向骨髓纤维化或 blast-phase 疾病的演变反映了更高的突变负担的积累。
