Gene Mutations of JAK2 V617F in Patients with BCR-ABL-Negative Myeloproliferative Neoplasm and Their Relationship with Disease Types and Vascular Diseases
Objective To study the gene mutations of Janus kinase 2(JAK2)V617F in patients with breakpoint cluster region/Abelsonleukemia virus(BCR-ABL)-negative myeloproliferative neoplasm(MPN)and their relationship with disease types and vascular diseases.Methods A total of 79 patients with BCR-ABL-negative MPN in Anyang District Hospital of Puyang from May 2020 to May 2023 were selected as the study subjects,and 80 healthy people with physical examination during the same period were included in control group.Peripheral blood was collected on the first day after admission to detect blood routine and coagulation function.The mutation rates and mutation loads of JAK2 V617F genes were detected by fluorescence quantitative polymerase chain reaction(PCR).The patients were grouped according to disease types and absence or presence of vascular diseases,and the detection results were compared among the groups.The influencing factors of vascular diseases were studied by multivariate logistic regression analysis.Results The mutation rate of JAK2 V617F gene in MPN group was higher than that in control group(P<0.05).The JAK2 V617F mutation rates in polycythemia vera(PV)group,essential thrombocytosis(ET)group and primary myelo fibrosis(PMF)group were 92.31%,57.78%and 62.50%respectively,and the mutation rate in ET group and PMF group was lower than that in PV group(P<0.05),but there was no statistical difference in mutation load among the three groups(P>0.05).The mutation rate and mutation load of JAK2 V617F gene in vascular disease group were higher than those in non-vascular disease group(P<0.05).The age,myeloproliferative neoplasms total symptom score questionnaire(MPN-10)score,fibrinogen(Fib)and D-dimer(D-D)levels in vascular disease group were higher than those in non-vascular disease group(P<0.05),there were no statistical difference in gender,disease classification,hemoglobin(Hb),white blood cell(WBC),platelet count(PLT)levels,activated partial thromboplastin time(APTT)and prothrombin time(PT)between the two groups(P>0.05).The levels of Fib and D-D in positive JAK2 V617F gene mutation group were higher than those in negative JAK2 V617F gene mutation group(P<0.05).The risk factors of MPN with vascular diseases included age,D-D,positive JAK2 V617F mutation and JAK2 V617F mutation load(P<0.05).Conclusion Among patients with BCR-ABL-negative MPN,the mutation rate of JAK2 V617F gene is high,and JAK2 V617F gene mutation may cause coagulation abnormality and is closely related to disease types and vascular diseases.