Araki Marito, Morishita Soji, Komatsu Norio
Department of Transfusion Medicine and Stem Cell Regulation, Juntendo University Graduate School of Medicine.
Rinsho Ketsueki. 2016;57(12):2526-2534. doi: 10.11406/rinketsu.57.2526.
This review outlines recent advances in the understanding of gene alterations and the genetic background associated with myeloproliferative neoplasms (MPNs), as well as describing the roles of these genetic factors in the development of MPNs. JAK2, CALR, and MPL mutations that are specifically found in patients with MPNs have been shown to constitutively activate cytokine receptors. Other mutations that are commonly found in hematopoietic malignancies have been demonstrated to synergize with disease-specific mutations and to accelerate the development of MPN, or to define the disease subtype. However, some of these mutations are found in healthy elderly persons, such that the mechanism of MPN development remains elusive. Further analyses including those for genetic factors associated with the occurrence of MPN will lead to a complete understanding of MPN development.
本综述概述了在骨髓增殖性肿瘤（MPN）相关基因改变及遗传背景理解方面的最新进展，并描述了这些遗传因素在MPN发生发展中的作用。在MPN患者中特异性发现的JAK2、CALR和MPL突变已被证明可组成性激活细胞因子受体。在造血系统恶性肿瘤中常见的其他突变已被证明可与疾病特异性突变协同作用，加速MPN的发展，或确定疾病亚型。然而，其中一些突变在健康老年人中也有发现，因此MPN的发病机制仍不清楚。包括对与MPN发生相关的遗传因素进行分析在内的进一步研究，将有助于全面了解MPN的发生发展。
