The Study On Relationship Between JAK2V617F Gene Mutation And CALR Gene Mutation And Clinical Significance Of Classic BCR/ABL Negative Myeloproliferative Neoplasm Patients

Objective:To investigate correlation between JAK2 V617 F gene mutation,CALR gene mutation and clinical feature, laboratory examination of BCR/ABL negative PV,ET,PMF patients.Materials and methods:There are eighty-one BCR/ABL negative PV,ET,PMF patients,37 polycythemia vera(PV), 26 secondary polycythemia patients whose haemoglobin count nearly 160g/L,39 essential thrombocythemia(ET),28 secondary thrombocythemia patients whose platelet count nearly 450 × 109/L,5 primary myelofibrosis(PMF), 5 secondary myelofibrosis.JAK2 V617 F gene mutation was detected by AS-PCR method,CALR gene mutation was detected by SANGER method, to investigate whether the different characteristics, laboratory examination is related with gene mutation.Results: 1. 59/81 BCR/ABL negative PV,ET,PMF patients detected JAK2 V617 F gene mutation, the positive expression rate was 61.53%(16/26) in PV patients,(57.14%,16/28) in ET patients and 40.0%(2/5) in PMF patients.In the control group, The other 32 patients were negative.2. There were significant differences in the JAK2 V617 F gene mutation between PV, ET and secondary diseases, so to detect it has clinical value to discriminate these diseases. There was no difference between PMF and secondary myelofibrosis.3. The incidence of PV patients, leucocyte count, haemoglobin, platelet count, neutrophile granulocyte count was higher than secondary polycythemia(P<0.05); The incidence occurred of ET patients, leucocyte count, haemoglobin level, and splenomegaly was greater than secondary thrombocythemia(P<0.05); The incidence of PMF patients, platelet count, neutrophile granulocyte count was higher than secondary myelofibrosis(P<0.05).4. The incidence of PV patients with JAK2V617 F gene mutation positive, leucocyte count,haemoglobin, neutrophile granulocyte count was higher than JAK2V617 F negative PV patients; The incidence of ET patients with JAK2V617 F gene mutation positive,leucocyte count, haemoglobin, neutrophile granulocyte count was higher than negative group; The incidence of in PMF patients with JAK2V617 F gene mutation positive, leucocyte count,neutrophile granulocyte count was higher than negatibve group.The total incidence of thrombosis in JAK2V617 F gene mutation patients was higher than negative patients.5. The incidence of ET patients with CALR gene mutation,compared with JAK2V617 F gene mutation ET group, leucocyte count, haemoglobin, neutrophile granulocyte count was lower, platelet count was higher.The leucocyte count, haemoglobin, neutrophile granulocyte count of no JAK2V617F/CALR gene mutation were between JAK2V617 F positive ET group and CALR positive group。Conclusion:1. It is important to detect JAK2 V617 F gene mutation in PV, ET patients, CALR gene mutation in ET,which has clinical diagnostic value.2. The total incidence of thrombosis in JAK2V617 F gene mutation patients was higher than negative patients.3. Discover a new CALR gene mutation type(c.1142A>C/p.E381A).