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JAK-2 V617F Mutational Analysis in Primary Idiopathic Myelofibrosis: Experience from Southern Pakistan
Sadia Sultan1, Syed Mohammed Irfan
1Department of Hematology and Blood Bank, Liaquat National Hospital and Medical College, Karachi, Pakistan
Background:
Primary idiopathic myelofibrosis (PMF) is a clonal Ph-chromosome negative myeloproliferative neoplasm characterized by dysregulated kinase signaling and release of abnormal cytokines. In the recent past, following JAK2 V617F mutation invention, important revolution has been made in the molecular diagnostic biology of this disease. The rational of this study was to determine the mutational status of JAK2 V617F in Pakistan patients with PMF.
Materials And Methods:
In this cross sectional study, 20 patients with PMF were enrolled from January 2011 to December 2014. Diagnosis was based on WHO criteria for PMF. All patients were screened for G-T point mutation (V617F) in the JAK2 gene on chromosome 9 by allele specific PCR.
Results:
The mean age was 57.9 ± 16.5 years. The male to female ratio was 3:1. The frequency of JAK2 V617F positivity in our PMF patients was found to be 55%. Positive correlations of JAK2 V617F mutation were established with high TLC count, raised LDH and marked splenomegaly (P<0.05). No correlation of JAK2 V617F could be established with age and gender (P>0.05).
Conclusions:
The JAK2 V617F mutation frequency in our PMF patients was similar to those reported previously. In our hands JAK2 V617F mutated patients expressed an aggressive disease phenotype. Screening for the mutation in all suspected PMF cases could be beneficial in differentiating patients with reactive and clonal marrow fibrosis.
Insights
The JAK2 V617F mutation was found in 55% of Pakistani primary idiopathic myelofibrosis patients. This mutation correlates with aggressive disease markers, aiding in diagnosis.
Area of Science:
- Hematology
- Molecular Biology
- Oncology
Background:
- Primary idiopathic myelofibrosis (PMF) is a myeloproliferative neoplasm with dysregulated kinase signaling.
- The discovery of the JAK2 V617F mutation revolutionized PMF molecular diagnostics.
- Understanding mutation prevalence is crucial for patient stratification.
Purpose of the Study:
- To determine the frequency of the JAK2 V617F mutation in Pakistani PMF patients.
- To investigate the correlation between JAK2 V617F status and clinical parameters.
- To assess the diagnostic utility of JAK2 V617F screening in PMF.
Main Methods:
- A cross-sectional study included 20 PMF patients diagnosed by WHO criteria.
- JAK2 V617F mutation screening was performed using allele-specific PCR.
- Clinical data including age, gender, TLC, LDH, and splenomegaly were analyzed.
Main Results:
- The JAK2 V617F mutation was detected in 55% of the studied PMF patients.
- JAK2 V617F positivity showed significant correlation with high TLC, elevated LDH, and marked splenomegaly (P<0.05).
- No significant correlation was observed between JAK2 V617F status and patient age or gender (P>0.05).
Conclusions:
- The observed JAK2 V617F mutation frequency aligns with previous international findings.
- JAK2 V617F mutated PMF patients presented with a more aggressive disease phenotype.
- Screening for JAK2 V617F is valuable for distinguishing clonal fibrosis from reactive causes.