Retrospective analysis of patients with chronic myeloproliferative neoplasms: a single center experience

Aims: Chronic myeloproliferative diseases(CMPD) are clonal diseases which may cause hemostatic and thrombotic abnormalities and progress to acute leukemia and characterized by increases in the number of mature and immature cells in the peripheral blood as a result of uncontrolled proliferation of one or more than one type of myeloerythroid cells in the bone marrow.The purpose of this study is to determine demographic features, the incidence of JAK2 mutation,disease characteristics and treatment strategies in patients with the diagnosis of CMPD.
Methods: A total of 100 CMPD patients[essential thrombocytosis(ET),n=52;primary myelofibrosis (PMF), n=31 and polycythemia vera(PV),n=17] admitted to our clinic between February 2006 and February 2013 were included with the diagnosis of BCR/ABL–negative CMPD based on 2008 WHO criteria in whom JAK mutation was analyzed were included in the study. Age, gender, family history, secondary cancer, bleeding, history of thrombosis, whole blood cell counts, the presence of hepatomegaly and splenomegaly and other symptoms and signs at the time of diagnosis were evaluated. Besides, thrombotic and hemorrhagic history of the patients were assessed.The presence of JAK mutation in DNA samples was analyzed using Real-Time PCR.
Results: Distribution of age and gender of the patients, besides family history, previous incidents of bleeding, thrombosis, secondary cancer, also blood hemoglobin,LDH values, platelet and white blood cell counts, constitutional symptoms, minor neurologic symptoms, presence of hepatomegaly and splenomegaly at the time of diagnosis.In our study, the incidence of JAK2 mutation was highest among cases with PMF(70.9%), followed by cases with PV(70.6%) and ET(51.9%).
Conclusion: The incidence of JAK2 mutation has offered a different perspective in BCR/ABL- negative cases with CMPD and has taken its place as an acceptable diagnostic factor.In our study, since a limited number of cases were analyzed in our study,the relationship between this mutation and CMPD should be confirmed by the studies with higher number of cases.