Abstract:

Objective To investigate the significance of V617F mutation in JAK2 gene combining cytometry and bone marrow cell morphology on the diagnosis of myeloproliferative disease (MPD). Methods Of the 102 cases whose peripheral blood number increased with various degrees, the real-time fluorescence quantitation polymerase chain reaction (PCR) was applied to detect the V617F mutation in JAK2 gene, and the cell morphology of bone marrow was observed. Results In the 54 cases of MPD, including polycythemia vera (PV) and essential thrombocythemia (ET) and primary myelofibrosis (PMF), the positive rates of JAK2 V617F mutation were 91.7%, 50.0% and 66.7% respectively, while JAK2 V617F mutation was not detected in the 48 non-MPD cases with statistical significance (P<0.05). Between MPD and non-MPD groups, the value of part blood cell count had statistical significance (P<0.05). There existed a certain characteristic on bone marrow cell morphology in MPD group. Conclusions Compared with patients with secondary blood disease, MPD patients display higher frequency of V617F mutation in JAK2 gene, and there is vital significance for the diagnosis with combination of cytometry and bone marrow cell morphology.

Key words: Myeloproliferative disease, JAK2 gene V617F mutation, Bone marrow cell morphology, Blood cell count