JAK2 gene V617F mutation is reportedly important in chronic myeloproliferative diseases. In this study results of JAK2 V617F mutation in cases with chronic myeloproliferative disease and myelodysplastic syndrome are presented. The study was conducted with 22 patients diagnosed to have chronic myeloproliferative disease and myelodysplastic syndrome (seven polycythemia vera, three essential thrombocythemia, three chronic myelocytic leukemia, five unclassified chronic myeloproliferative disease, three myelodysplastic syndrome and one juvenile myelomonocytic leukemia) and with 10 control cases (seven secondary erytrocytosis and three reactive thrombocythosis). The mutation was detected in six out of seven polycythemia vera cases (85.7%). No mutation was detected in seven cases with secondary erytrocytosis. In one out of the three essential thrombocythemia cases (33.3%), the mutation was detected. No mutation was found in three cases with reactive thrombocythosis and in three cases with chronic myelocytic leukemia. In one out of five cases with unclassified chronic myeloproliferative disease (20%), the JAK2 V617F mutation was positive. No mutation was detected in three cases with myelodysplastic syndrome and juvenile myelomonocytic leukemia. As a result, determination of the JAK2 V617F mutation seems to be important in patients suspected to have chronic myeloproliferative disease, especially in the differential diagnosis of polycythemia vera and secondary polycythemia.
Keywords: Essential thrombocythemia, JAK2 V617F mutation, myelofibrosis, myeloproliferative disease, polycythemia vera
