JAK 2V617F Mutation: Frequency and Relation to Clinical and Laboratory Features of BCR-ABL Negative Myeloproliferative Diseases

İlhan, Gül; Karakuş, Sema; Şahin, Feride İffet

doi:10.4999/uhod.10064

Cited by 5 publications

(1 citation statement)

References 34 publications

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“…The present study revealed that the mean age of incidence in Sudanese patients with polycythaemia Vera was in the fourth decade and this finding disagrees with findings from a study done by Sazawal et al, (2010) in India which reported that mean age of incidence of polycythaemia Vera is in the fifth decade. Also the present study disagrees with study done in India (Karakus, 2012) which reported that Median age at diagnosis was 60 years. In agreement with the fact that polycythaemia Vera was not reported in patients under 20 years old, none of our patients was aged less than 20 years.…”

Section: Discussioncontrasting

confidence: 99%

Polycythaemia Vera among Sudanese Patients with Special Emphasis on JAK2 Mutations

Ibrahim

Hassan

Ali

et al. 2019

Asian Pac J Cancer Prev

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Background: In recent years, a somatic point mutation in the Janus Kinase 2 (JAK2) gene (1849 G→T, V617F) has been reported to occur in over 90% of patients with polycythemia vera (PV). Another JAK2 mutation in exon 12 had been described and shown capable of activating erythropoietin signaling pathways. Objective: In this study, we aimed to determine the frequency of Jak2 mutations (JAK2V617F and JAK2 exon 12) as well as their relationships with hematological parameters in Sudanese patients with myeloproliferative disorders (MPD). A comparison with findings of published studies from other geographic regions was included. Materials and Methods: From each of a total of 83 polycythaemia patients, six milliliters (ml) of venous blood were collected and processed for molecular analysis and measurement of serum erythropoietin level by enzyme-linked immunoassay (ELISA). The JAK2 V617F mutation was determined using an allele-specific competitive blocker (ACB) -PCR assay and High Resolution Melting (HRM) analysis was applied for the JAK2 exon 12 mutation. Results According to patients’ history and the results for EPO levels, nine (10.7 %) out of 83 patients were found to have secondary polycythaemia and 74 (89.3%) PV. The overall frequency of the 2 JAK2 mutations was 94.6% in our Sudanese PV patients, JAK2V617F being found in 91% and JAK2 exon 12 mutations in 8.1%. Conclusion In summary JAK2 V617F and JAK2 exon 12 mutations are very common in Sudanese PC cases.

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Section: Discussioncontrasting

confidence: 99%

Polycythaemia Vera among Sudanese Patients with Special Emphasis on JAK2 Mutations

Ibrahim

Hassan

Ali

et al. 2019

Asian Pac J Cancer Prev

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Evaluation of the JAK2 V617F gene mutation in myeloproliferative neoplasms cases: a one-center study from Eastern Anatolia

Gülbay

Yeşilada

Erkurt

et al. 2019

Turkish Journal of Biochemistry

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ObjectiveDetection ofJAK2V617F in myeloproliferative neoplasms (MPNs) is very important in both diagnosis and disease progression. In our study, we investigated the frequency ofJAK2V617F mutation in patients with myeloproliferative disorders.MethodsWe retrospectively reviewed the records of 720 patients (174 females and 546 males) who were tested for JAK2 V617F mutation from January 2007 to December 2017.ResultsIn our patients were determined 22.6%JAK2V617F mutation. 33.3% in women, 19.2% in men have been positive forJAK2V617F mutation. In our studyJAK2V617F present in 48.6% of essential thrombocythemia, 80.5% of polycythemia rubra vera (PV), 47.5% of primary myelofibrosis, 10% of MPNs, unclassifiable, 0.8% of others. We also investigated the difference in hematological parameters [white blood cell, hemoglobin (Hb), hematocrit (HCT), red blood cell distribution widths (RDW) and platelets count (PLT)] betweenJAK2V617F positive andJAK2V617F negative patients.ConclusionsInvestigation of the JAK2 V617F mutation is very important in cases of MPNs. In our study JAK2 V617F mutation was higher in PV, essential thrombocythemia, and primary myelofibrosis patients. However, there were significant differences in Hb, HCT, RDW and PLT levels in mutation-positive patients.

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Relationship between JAK2-V617F mutation and hematologic parameters in Philadelphia-negative chronic myeloproliferative neoplasms

Akşit

Bozkaya

Uzuncan

et al. 2020

Turkish Journal of Biochemistry

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ObjectivesWe aimed to investigate the prevalence of JAK2-V617F mutation and its association with hematologic parameters in polycythemia vera(PV), essential thrombocytosis(ET) and primary myelofibrosis(PMF) patients who have been tested for the mutation.MethodsWe retrospectively reviewed the records of 168 patients (82 males and 86 females) who were tested for JAK2-V617F mutation upon request of Hematology Clinic. JAK2-V617F mutation status, white blood cell (WBC) counts, platelet (PLT) counts, hemoglobin (Hb), hematocrit (Hct) levels and demographics of the patients were recorded.ResultsJAK2-V617F mutation was detected in 55.9% of the 168 patients. The mutation was observed in 58.2% of PV cases, in 54.4% of ET and in 54.5% of PMF cases. All patients were divided into two groups: mutation positive and negative. Age, WBC and PLT levels were significantly higher in mutation positive group (p<0.05). Age, WBC, Hb, Hct and PLT counts in PV cases with JAK2-V617F mutation, age and WBC counts in PMF cases with JAK2-V617F mutation were found to be significantly higher compared to mutation negative patients (p<0.05).ConclusionJAK2-V617F mutation is a very important parameter in diagnostic and prognostic evaluation. Thus, every patient suspected of having a myeloproliferative neoplasm should be screened for JAK2-V617F mutation.

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JAK 2V617F Mutation: Frequency and Relation to Clinical and Laboratory Features of BCR-ABL Negative Myeloproliferative Diseases

Cited by 5 publications

References 34 publications

Polycythaemia Vera among Sudanese Patients with Special Emphasis on JAK2 Mutations

Polycythaemia Vera among Sudanese Patients with Special Emphasis on JAK2 Mutations

Evaluation of the JAK2 V617F gene mutation in myeloproliferative neoplasms cases: a one-center study from Eastern Anatolia

Relationship between JAK2-V617F mutation and hematologic parameters in Philadelphia-negative chronic myeloproliferative neoplasms

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