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Published on: December 22, 2016
Low frequency of c-MPL gene mutations in Iranian patients with Philadelphia-negative myeloproliferative disorders
A Ghotaslou1, F Nadali2, B Chahardouli3
1MS.c Student , Department of Hematology,School of Allied Medical Sciences , Tehran university of Medical Sciences, Tehran , Iran.
Background:
Myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. In addition to JAK2V617F mutation, several mutations in the c-MPL gene have been reported in patients with philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. The aim of the present study was to investigate the frequency of c-MPL and JAK2V617F mutations in Iranian patients with Philadelphia-negativemyeloproliferative disorders.
Material And Methods:
Peripheral blood samples were collected from 60 patients with Philadelphia-negative MPD) Subgroups ET and PMF) and 25 healthy subjects as control group. The mutation status of c-MPL and Jak2V617F were investigated by using Amplification-refractory mutation system (ARMS) and Allele-Specific PCR (AS-PCR), respectively. The results were confirmed by sequencing.
Results:
Among 60 patients, 34 (56.6%) and 1(1.7%) had Jak2V617F and c-MPL mutation, respectively. Patients with Jak2V617F mutation had higher WBC counts and hemoglobin concentration than those without the mutation (p= 0.005, p=0.003). In addition, for all healthy subjects in control group, mutations were negative.
Conclusions:
The present study revealed that the c-MPL mutations unlike the Jak2V617F mutations are rare in Iranian patients with Ph-negative MPNs and the low mutation rate should be considered in the design of screening strategies of MPD patients.
Insights
JAK2V617F mutations are common in Iranian patients with Philadelphia-negative myeloproliferative disorders (MPD), while c-MPL mutations are rare. These findings impact MPD screening strategies in this population.
Area of Science:
- Hematology
- Oncology
- Molecular Diagnostics
Background:
- Myeloproliferative disorders (MPDs) involve myeloid lineage overgrowth.
- JAK2V617F and c-MPL mutations are implicated in Philadelphia-negative MPDs.
- Understanding mutation prevalence is crucial for disease pathogenesis and treatment.
Purpose of the Study:
- To determine the frequency of c-MPL and JAK2V617F mutations in Iranian patients with Philadelphia-negative MPDs.
- To assess the clinical significance of these mutations in the studied cohort.
Main Methods:
- Collected peripheral blood from 60 MPD patients and 25 healthy controls.
- Utilized Amplification-Refractory Mutation System (ARMS) for c-MPL and Allele-Specific PCR (AS-PCR) for JAK2V617F.
- Confirmed mutation status through DNA sequencing.
Main Results:
- JAK2V617F mutation found in 56.6% of patients; c-MPL mutation in only 1.7%.
- JAK2V617F-positive patients exhibited higher WBC counts and hemoglobin levels.
- No mutations were detected in the healthy control group.
Conclusions:
- c-MPL mutations are infrequent in Iranian Philadelphia-negative MPD patients.
- JAK2V617F is the predominant mutation, influencing disease characteristics.
- Low c-MPL mutation rate necessitates tailored screening strategies for MPD patients.
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