基因突变与骨髓增殖性肿瘤关系的研究进展

摘要

骨髓增殖性肿瘤(MPN)是因为骨髓髓系细胞增殖导致外周血细胞计数增加的克隆性造血干细胞疾病。经典的Ph染色体阴性MPN由真性红细胞增多症(PV)、原发性血小板增多症(ET)及原发性骨髓纤维化(PMF)组成，研究发现PV、ET及PMF的发病机制与多种基因的突变密切相关，包括Janus激酶2(JAK2)、促血小板生成素受体的编码基因MPL及钙网蛋白CRT。因此，本文着重以JAK2、MPL及CRT的突变介绍基因突变与MPN的关系的最新研究进展。%Myeloproliferative neoplasms (MPN) are a group of diseases characterized by increased proliferation of erythroid, megakaryocytic, or granulocytic cells. These disorders are caused by hyperproliferation of multiple hemato-poietic lineages in the bone marrow. The Philadelphia-chromosome-negative classic chronic myeloproliferative neo-plasms (MPN) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Studies have found that the pathogenesis of PV, ET and PMF is closely related to a variety of gene mutations which in-cluding Janus kinase 2 (JAK2), MPL and calreticulin (CRT). This paper focuses on the latest research progress of the re-lationship between gene mutations (JAK2, MPL and CRT) and MPN.