Clin Chem Lab Med. 2013 Oct;51(10):1889-96. doi: 10.1515/cclm-2013-0135.
Myeloproliferative neoplasms (MPNs) represent a group of diseases that affect the myeloid lineage, characterized by the presence of an excess of terminally differentiated myeloid cells. Defects causing clonal hematopoiesis are a key factor in the emergence of these diseases. Throughout the years, a number of causative defects have been identified, predominantly affecting cytokine signaling and gene expression regulation. This review aims to provide an update on the current status of the MPN field in relation to identification of molecular defects involved in the disease and its clonal evolution.
骨髓增殖性肿瘤(MPNs)是一组影响髓系的疾病,其特征是存在终末分化的髓系细胞过度增生。导致克隆性造血的缺陷是这些疾病出现的关键因素。多年来,已经确定了许多致病缺陷,主要影响细胞因子信号和基因表达调控。这篇综述旨在提供有关 MPN 领域的最新信息,涉及涉及疾病及其克隆演变的分子缺陷的鉴定。