Journal of Isfahan Medical School

Journal of Isfahan Medical School

Frequency of c-MPL and JAK2V617F Mutations in Iranian Patients with Philadelphia-Negative Myeloproliferative Disorders and its Association with Clinical and Laboratory Findings

Document Type : Original Article (s)

Authors
Abbas Ghotaslou 1
Fatemeh Nadali 2
Bahram Chahardouli 3
Ali Ghasemi 1
Sadegh Abbasian 1
Kazem Ghaffari 1
Shahrbanoo Rostami 3
1 MSc Student, Department of Hematology, School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran, Iran
2 Associate Professor, Department of Hematology, School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran, Iran
3 Hematology-Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran
Abstract
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 were described in patients with Philadelphia-negative Chronic Myeloproliferative disorders (Ph-negative MPNs) 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-negative Myeloproliferative disorders.Methods: Peripheral blood samples from 60 patients with Philadelphia-negative Myeloproliferative disorders, subgroups of essential thrombocythemia (ET) and primary myelofibrosis (PMF) and 25 healthy subjects, as control, were taken. In order to investigate the mutation status of c-MPL and Jak2 V617F via using sequencing, the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and allele specific-polymerase chain reaction (AS-PCR) were used.Findings: Of the total of 60 patients, 34 (56.6%) and 1 (1.7%) had Jak2V617F and c-MPL mutations, respectively. Patients with Jak2V617F mutation had higher white blood cell (WBC) counts (P = 0.005) and hemoglobin concentrations than those without the mutation (P = 0.003). In addition, for all healthy subjects in control group, mutation was negative.Conclusion: The present study revealed that the c-MPL mutations, unlike the Jak2V617F mutations, are rare in Iranian patients with Philadelphia-negative Chronic Myeloproliferative disorders and the low mutation rate should be considered in the design of screening strategies of patients with myeloproliferative disorders.
Keywords
Amplification refractory mutation system-polymerase chain reaction (ARMS-PCR)
c-MPL mutation
JAK2V617F
Myeloproliferative disorders
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Journal of Isfahan Medical School
Volume 32, Issue 301 - Serial Number 301
July and August 2014
Pages 1487-1495

  • Receive Date 04 August 2014
  • Accept Date 06 April 2022