TET2, DNMT3A, IDH1, and JAK2 mutation in myeloproliferative neoplasms in southern Iran

Elham Abedi, Mani Ramzi, Mehran Karimi, Ramin Yaghobi, Hamid Mohammadi, Elahe Bayat, Mohamad Moghadam, Farnoush Farokhian, Mehdi Dehghani, Habib ala Golafshan, Sezaneh Haghpanah



Background: Five epigenetic regulator mutation are considered in myeloproliferative neoplasm that have prognostic and therapeutic values.

 Objective: We aimed to evaluate these mutations in MPNs group of Iranian population.

Method: We selected 5 mutations in 4 epigenetic regulatory genes (TET2, DNMT3A, IDH1 (rs147001633& rs121913499), and JAK2) and evaluated 130 patients with MPNs including 78 Philadelphia chromosomes negative (49 ETs, 20 PVs, and 9 PMFs) and 52 Philadelphia chromosome-positive patients as well as 51 healthy controls.

Result: Eight patients (6.5%) carried DNMT3A mutation, 35 (27%) were positive for TET2 mutation and 64 (49.3%) carried JAK2V617F mutation. In the healthy controls, 16 (31.4%) cases had TET2 mutation (15 Heterozygote+ 1 Homozygote) and one had heterozygote JAK2 mutation. None of them, except JAK2 had different statistical frequency amongst the patients groups. JAK2 mutation rate was 18(90%), 25(51%), 7(77.8%), 14(26.9%) in Polycythemia Vera, Essential thrombocythemia, Primary myelofibrosis, and Chronic mylocytic leukemia, respectively. TET2 mutation was more prevalence amongst patients aged 60 years or older (23% vs. 39% in less and more than 60 years old, P value: 0.025). IDH1 was not detected at all and PV had the highest TET2 mutation 7 (35%).

Conclusion: In the normal Iranian population, the heterozygote form of TET2 mutation is significant, especially in the elderly. No association was found between JAK2 and TET2 mutations. Both of them are more prevalent in the age group 60 years and older. DNMT3A mutation has low prevalence and occurs in both positive and negative MPNs.


TET2, DNMT3A, IDH1, Philadelphia chromosomes

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 pISSN: 2008-6482
 eISSN: 2008-6490


Creative Commons LicenseThis work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License