The prevalance of JAK-2 mutation in chronic myeloproliferative diseases and correlation of laboratory findings

Aim: The discovery of JAK2V617F mutation in the diagnosis of chronic myeloproliferative diseases(CMD) has led to the development of new diagnostic algorithms regarding philadelphia (Ph) chromosome (-) diseases, thus allowing new treatment methods. The studies carried out so far have determined JAK2V617F mutation frequency as 90-95 % for Polycythemia Vera(PV),50-60 % for Essential Thrombositosis(ET), and 40-50 % for Idiopathic Myelofibrosis (IMF). In addition, in the studies, the relation of the findings and symptoms such as age, existence of leukocytosis, thrombosis development, organomegaly and itching, with existence of mutation has also been evaluated. In the present study, we also invastigated JAK2V617F mutation frequency in the patients followed up with diagnosis of myeloproliferative disease, and its relationship with laboratory findings.Material-Method:A total of 67 patients were included in to the study thirty five patients with PV,twenty one with ET and eleven with IMF. İn venous blood samples of the patients, JAK2V617F mutation analysis in granulocytes was performed by RT-PCR(Real Time Polymerase Chain Reaction) method.Results: In our study, we determined JAK2V617F mutation frequency as 91,4% for PV, 52,4 % for ET and 45,5 % for IMF. When all the cases were evaluated together, we observed a positive correlation between JAK2V617F mutation existence and age(P=0,004).In other words,as the age advance,the mutation positivity increased.Also, we detected a positive relationship between high leukocyte count and JAK2V617F mutation existence for PV and ET groups(P<0,0001).Conclusion:JAK2V617F mutation frequency in myeloproliferative diseases and mutation positivity in advanced age was to be similar to the findings in literature.The determination of JAK2V617F mutation existence has taken its importance place in the diagnosis of myeloproliferative diseases and seems to be fairly promising in the developments of new treatment methods in the near future.