Iranian Journal of Pathology

Prevalence of MPL (W515K/L) Mutations in Patients with Negative-JAK2 (V617F) Myeloproliferative Neoplasm in North-East of Iran

Document Type : Original Research

Authors

Seyyede Fatemeh Shams 1
Hossein Ayatollahi 1
Mohammad hadi Sadeghian 1
Monavar Afzal Aghaee 2
Sepideh Shakeri 1
Ehsan Yazdandoust 3
Maryam Sheikhi 1
Nafiseh Amini 1
Samane Bakhshi 1
Afsane Bahrami 4

1 Cancer Molecular Pathology Research Center, Dept. of Hematology and Blood Bank, Mashhad University of Medical Sciences, Mashhad, Iran

2 Dept. of Statistics and Epidemiology, Faculty of Health, MUMS, Mashhad, Iran

3 Dept. of Hematology and Blood Bank, Mashhad University of Medical Sciences, Mashhad, Iran

4 Cellular and Molcular Research Center, Birjand University of Medical Sciences, Birjand, Iran

Abstract
Background and Objective: Janus kinase 2 (JAK2) and Myeloproliferative Leukemia (MPL) mutations are confirmatory indicators for Myeloproliferative Neoplasm (MPN). The current study was performed to determine the frequency of MPL mutation in MPN patients without JAK2 mutation, in order to assign MPL mutation frequency in North-East of Iran.
Methods: Total of 105 negative JAK2 cases including 5 Myeloproliferative Disorders (MPD), 15 Polycytemia Vera (PV) and 15 Essential Thrombocytosis (ET) who referred to Qaem Medical Center were assigned to this study. ARMS-PCR was carried out for measuring MPL mutations.
Results: A significant difference was observed between MPL mutant and non-mutant groups from overview of MPL mutation (P=0.00001). From the total studied population, 14.28% were ET cases and 4.71% of them had splenomegaly. About 66.66% had thrombocytosis and 33.33% of all the individuals had leukocytosis according to WHO criteria, and 4.76% of non-MPL mutant individuals had splenomegaly (P=1).
This mutation was reported in 4-6% of ET and PMF individuals. In this research, 4.76 % of studied individuals had MPL (W515L/K) mutation, which were diagnosed with ET.
Conclusion: Generally, the presence of JAK2 and MPL mutations are the most important criteria for MPN diagnosis. The obtained frequency of MPL mutation was similar to previous studies. Despite the high frequency of JAK2 and Philadelphia abnormality, MPL mutation was rare in myeloprolifrative disorders. Further studies are suggested to investigate its prognostic effects for these diseases.

Keywords

MPL (W515K/L)
JAK2 (V617F)
Myeloproliferative neoplasm

Subjects

Iranian Journal of Pathology
Volume 13, Issue 4
Autumn 2018
Pages 397-402

  • Receive Date 15 April 2017
  • Revise Date 29 May 2017
  • Accept Date 08 August 2017

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