Low frequency of c-MPL gene mutations in Iranian patients with Philadelphia-negative myeloproliferative disorders.
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.


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.
MS.c Student , Department of Hematology,School of Allied Medical Sciences , Tehran university of Medical Sciences, Tehran , Iran.
A
A
Ghotaslou
Associate Professor, Departement of Hematology, School of Allied Medical Sciences , Tehran university of Medical Sciences , Tehran, Iran.
F
F
Nadali
Assistant Professor, Hematology-Oncology and Stem cell Transplantation Research Center, Tehran university of Medical Sciences, Tehran, Iran.
B
B
Chahardouli
MS.c Student, Hematology-Oncology and Stem cell Transplantation Research Center, Tehran university of Medical Sciences, Tehran, Iran.
N
N
Alizad Ghandforosh
Assistant Professor, Hematology-Oncology and Stem cell Transplantation Research Center, Tehran university of Medical Sciences, Tehran, Iran.
S H
SH
Rostami
Professor, Hematology-Oncology and Stem cell Transplantation Research Center, Tehran university of Medical Sciences, Tehran, Iran.
K
K
Alimoghaddam
Professor, Hematology-Oncology and Stem cell Transplantation Research Center, Tehran university of Medical Sciences, Tehran, Iran.
A
A
Ghavamzadeh
ARMS –PCR; JAK2V617F; Myeloproliferative Disorders; c- MPL mutation