Jak2基因突变的研究进展

Research Progress on Gene Mutation of Jak2——Review

慢性骨髓增殖性疾病(chronic myeloproliferative disease CMPD)是一组骨髓增殖性的恶性肿瘤,包括真性红细胞增多症,原发性血小板增多症,原发性骨髓纤维化和慢性髓系白血病等,其特征是一系或多系造血细胞的异常增生。除慢性髓系白血病的发病与bcr-abl融合基因有关外,其他CMPD的发病机制仍不清楚。近年来大量研究证实,在多种CMPD中存在较高的jak2基因突变率。本文就近年来jak2基因突变与多种血液系统疾病的诊断、临床特征及其分子靶向治疗等方面的研究进展进行综述。

Chronic myeloproliferative disease （CMPD） is a group of malignant blood disorders including polycythemia vera, essential thrombocythemia, primary myelofibrosis, chronic myeloid leukemia, and so on. CMPD is characterized by proliferation of one or several lineages in hemotopoietic system. The pathogenesis of CMPD is not clear except chronic myeloid leukemia associated with the bcr/abl fusion gene. In recent years, more studies demonstrated that CMPD have a higher mutation rate of gene jak2. In this review, the association of jak2 gene mutation with clinical diagnosis, clinical feature and molecular target therapy in CMPD and other hematological disease were summarized.