骨髓增殖性肿瘤相关基因突变及细胞因子的当前认识

Current Understanding of Myeloproliferative Neoplasm-Related Gene Mutations and Cytokine——Review

骨髓增殖性肿瘤(myeloproliferative neoplasm,MPN)是以一系或多系骨髓细胞异常增殖和扩增为特征的克隆性造血干细胞疾病,其中BCR-ABL阴性MPN包括真性红细胞增多症(polycythemia vera,PV)、原发性血小板增多症(essential thrombocythemia,ET)以及原发性骨髓纤维化(primary myelofibrosis,PMF)。因为JAK2、CALR及MPL基因突变的发现,MPN的发病机制得以阐释,并为MPN提供了更为完善的分子学诊断标准。随后,越来越多预后相关的新突变基因得到认识,同时发现细胞因子参与MPN的发生发展过程,这为MPN的诊断、预后分层及新的治疗管理提供了理论依据。本文就MPN相关基因突变与细胞因子在疾病进程中的作用机制及预后特点进行简要的综述。

Myeloproliferative neoplasm（MPN） is clonal hematopoietic stem cell disorder characterized by abnormal proliferation and expansion of one or more myeloid lineages. BCR-ABL-negative MPN includes polycythcmia vera （PV）, essential thrombocythemia （ET） and primary myelofibrosis （PMF）. The mutations of JAK2, CALR and MPL genes are involved in the pathogenesis of MPN that provided a more complete molecular diagnostic standard for MPN. More and more new mutated genes related to prognosis of MPN were discovered in the past few years, at same time it was found that cytokines were also involved in the genesis and development of MPN. These provide a theoretical basis for the diagnosis, risk stratification and treatment management of MPN. In this article, the mechanisms of MPN-related cytokines and mutated genes in the genesis and development of disease and prognosis characteristics are summarized.