JAK2V617F基因突变与骨髓增殖性肿瘤关系

JAK2V617F mutations and myeloproliferative neoplasms

长期以来,除慢性髓系白血病的发病与BCR-ABL融合基因有关外,其他骨髓增殖性肿瘤(MPNs)的发病机制仍不清楚,近年来大量研究证实,在多种MPNs中存在较高的JAK2基因突变率,并认为该突变可能是BCR-ABL阴性MPNs所特有的分子标志。该文就近年来对JAK2基因突变、MPNs的最新诊断和靶向治疗等方面的研究进展进行综述。

Over the years, with the exception of chronic myeloid leukemia where pathogenesis was found to be related with BCR-ABL fusion genes, the other MPNs＇ pathogenesis remains unclear. In recent years, numerous studies confirm that high rates of mutation of JAK2 gene exists in multiple MPNs, and that the mutation may he the characteristic molecular markers of BCR-ABL negative MPNs. In this paper, the research progress on JAK2 mutations, latest diagnosis and targeted therapy of MPNs and so on in recent years are reviewed.