TET2, DNMT3A, IDH1, and JAK2 Mutation in Myeloproliferative Neoplasms in southern Iran.

ABSTRACT:

Background

Five epigenetic regulator mutations are considered in myeloproliferative neoplasms (MPN) that have prognostic and therapeutic values.

Objective

We aimed to evaluate these mutations in MPNs among the Iranian population.

Methods

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 chromosome negative (49 ETs, 20 PVs, and 9 PMFs) and 52 Philadelphia chromosome-positive patients as well as 51 healthy controls.

Results

Eight patients (6.5%) carried the DNMT3A mutation, 35 (27%) were positive for TET2 mutation and 64 (49.3%) had the JAK2V617F mutation. In the healthy controls, 16 (31.4%) cases had the TET2 mutation (15 Heterozygote +

SUBMITTER: Abedi E 

PROVIDER: S-EPMC9013495 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature