Myeloproliferative Neoplasm (MPN) is a clonal disorder of hematopoietic stem cells (HSC). MPN is categorized as 8 subclasses, including chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocytopenia (ET), primary myelofibrosis (PMF), systematic mastositosis (SM), chronic eosinophilic leukemia (CEL), chronic neutrophilic leukemia (CNL), and unclassified myelofibrosis disorders (UMPN). It usually occurs in 5th to 7th decade of life. However, CNL and ET have been also observed in children. A lot of mutations have been identified in these disorders which Jak2V617F is the most important mutation. Moreover, other than JAK2V617F, several somatic mutations have been reported in MPN patients. Such mutations include MPL, TET2, ASXL1, IDH1, IDH2, CBL, LNK, IKZF, and EZH2 in precursor stem cells. The role of mutations mentioned is not clear in pathogenesis of this disease. Therefore, in this study, mutations in different stages of myeloproliferative disorders have been reviewed.
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