JAK2 V617F Mutation in Iranian Patients with Myeloproliferative Neoplasms: Clinical and Laboratory Findings

Abstract

The JAK2 V617F mutation has been described as a frequent genetic event among a majority of patients with polycythemia vera, essential thrombocythemia, and myelofibrosis. In this research, we evaluated the prevalence of the JAK2 mutation and its clinical and laboratory correlation in patients with myeloproliferative neoplasms. Materials and methods:A total of 615 patients with suspected myeloproliferative neoplasms (MPNs) were analyzed for the JAK2 V617F mutation. After DNA extraction, detection of the mutation was done using allele-specific PCR. Positive samples were subsequently analyzed with PCR-RFLP by the restriction endonuclease BsaXI. The patients were also analyzed for hematological indices.Results: Of 615 patients, 175 (28.4%) patients were positive for the JAK2 V617F mutation, whereas 440 (71.6%) patients were negative. The positive group included 79 (45.1%) patients with essential thrombocythemia, 62 (35.4%) patients with polycythemia vera, 27 (15.4%) patients with primary myelofibrosis, and 7 (4%) patients with unclassified MPNs. Conclusion:The frequency of the JAK2 mutation in our study is compatible with previous reports. JAK2 V617F mutation screening can be incorporated in the initial evaluation of patients suspected of having MPNs. The relationship between the JAK2 mutation and hematological indices can be used in new diagnostic and therapeutic strategies.

Evaluation of clinical and laboratory findings with JAK2 V617F mutation as an independent variable in essential thrombocytosis

“…This result is consistent with previous studies such as that of Poopak et al [25], which showed a higher WBC and neutrophil; Ha et al [26], which indicated a higher WBC, hematocrit, hemoglobin, neutrophil; Campbell et al [13], which showed a higher WBC, neutrophil, hemoglobin; Karkucak et al [2], which presented a higher WBC and hemoglobin; Finazzi et al [5], which showed a higher WBC, hematocrit, hemoglobin; Patriarca et al [24], which showed a higher WBC, hematocrit in patients with ET. The positive correlation with WBC and RBC counts suggest that JAK2 V617F mutation may play a role in the granulocyte production as previously reported [27].…”

Analysis of JAK2 V617F mutation in Tunisian patients with myeloproliferative neoplasms

“…In this study, we found that MPN JAK2 V617Fpositive patients had significantly higher hemoglobin levels and hematocrit which corroborates the results of previous reports. 18,20,21 Inversely, in our PV and PMF subgroups, the JAK2 V617F mutation did not influence either hemoglobin levels, or hematocrit, or leukocytes, and platelets count. These results agree with those of the Iranian 20 and Indian 21 studies.…”

“…12 Inversely, recent studies performed in patients diagnosed with the updated criteria have reported higher frequencies of the JAK2 V617F mutation in MPN patients. 16,[18][19][20][21] In fact, the frequency of the JAK2 V617F mutation in PV was 100% in Lebanese 19 and Iranian, 20 87.2% in Portuguese, 16 82% in Indian, 21 and 81% in Egyptian 18 populations. For the ET patients, the prevalence of the mutant allele was 73.4% in Portuguese, 16 70% in Indian, 21 68.29% in Lebanese, 19 50% in Egyptian, 18 and 45.66% in Iranian 20 studies.…”

Expression of CD markers in JAK2V617F positive myeloproliferative neoplasms: Prognostic significance

“… 1 To a lower extent, this mutation has also been reported in other malignancies, including acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), chronic myeloid leukemia (CML), chronic lymphoblastic leukemia (CLL), and some patients with MDS. 3-5 Recently, there have been cases of JAK2 V617F mutation in some leukemic patients without a history of JAK2 V617F positive MPNs. 106 , 107 The results of these studies suggest that this mutation is not specific to JAK2 V617F positive MPNs and that it may also be seen in normal individuals and underlie malignancies.…”

“…2 In addition, JAK2 V617F mutation has been reported in a number of other malignancies such as myeloid leukemias and has been rarely observed in lymphoid leukemias. 3-5 Since MPNs are hematopoietic stem cell (HSC) derived disorders, JAK2 V617F mutation can involve any myeloid progenitor, including granulocyte, erythrocyte, platelet, and monocyte. 6 , 7 In addition, since JAK2 is the signaling pathway of several hematopoietic factors and cytokines, the increased activity of this pathway under the influence of JAK2 V617F mutation can increase the sensitivity of multipotent progenitor cells to hematopoietic factors such as erythropoietin (EPO), thrombopoietin (TPO), and many other cytokines.…”