JAK2 exon13突变的红细胞增多症合并意义未明单克隆免疫球蛋白血症1例并文献复习

A case report of JAK2 exon13 mutation in polycythemia combined MGUS and literature review

2005年国际上4个不同的研究小组同时各自独立地检测到JAK2-V617F体细胞突变,该突变的出现意味着造血细胞对生长因子高度敏感及其增殖不再依赖于细胞因子。JAK2突变的发现,彻底改变了BCR-ABL阴性骨髓增殖性肿瘤（myeloproliferative neoplasm,MPN）的诊断策略,尤其是对真性红细胞增多症（polycythemia vera,PV）的诊断，此后又相继在PV中发现JAK2 exonl2突变。

To discuss the clinical feature and diagnosis of the JAK2 exon13 mutation in polycythemia combined monoclonal gammopathy of undetermined significance（MGUS）.We analyzed the diagnosis of the JAK2 exon13 mutation in polycythemia combined MGUS,and reviewed related literature.According to clinical feature and related detection,the patient was diagnosed the JAK2 exon13 mutation in polycythemia combined MGUS.The JAK2 exon13 mutation in polycythemia combined MGUS is rare,the correlation of JAK2 exon13 mutation in polycythemia needs further research.