Clinical analysis of JAK2 V617F gene mutation in 120 patients with myeloproliferative neoplasms

Objective To investigate the JAK2 V617F gene mutations in myeloproliferative neoplasms (MPN) patients and its clinical significance. Methods 120 patients were detected bone marrow pathological conditions with bone marrow cytology and biopsy analysis,and monitored the Ph chromosome and bcr-abl fusion gene. Genomic DNA from bone marrow cells was extracted from 120 patients, JAK2 V617F gene mutations were tested by fluorescence quantitative PCR. Results All patients of each MPN type presented their typical characteristics. Ph chromosome and bcr-abl fusion gene were negative. The positive rate of JAK2 V617F gene mutations was 66.7 % (80/120), among them the positive rate in polycythemia vera (PV) was 72.7 % (16/22), the positive rate in essential thrombocythemia (ET) was 66.0 % (62/94), and among 4 patients primary myelofibrosis (PMF) JAK2 V617F was positive in 2 cases. In JAK2 V617F positive PV patients, the white blood cell count (P = 0.001) and platelet count (P = 0.01) were significantly higher than those in negative patients. In JAK2 V617F positive ET patients, the white blood cell count was significantly higher than that in negative patients (P = 0.006). In PMF patients, there was no significant difference (P> 0.05). Conclusion JAK2 V617F gene mutations testing is helpful to the diagnosis and definite diagnosis of bcr-abl negative MPN, which promote the early detection and treatment. Key words: Myeloproliferative neoplasms; JAK2 V617F gene mutation; Polycythemia vera; Essential thrombocythemia; Primary myelofibrosis