Myeloproliferative disorders and its associated mutations

Abstract

Myeloproliferative Neoplasm (MPN) are a clonal disorder in hematopoietic stem cells (HSC). MPN is categorized to 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 observed in children. A lot of mutations have been identified in these disorders that Jak2V617F is the most important mutation. Moreover, several somatic mutations other than JAK2V617F in MPN patients have been reported. Such mutations include MPL, TET2, ASXL1, IDH1, IDH2, CBL, LNK, IKZF, and EZH2 from precursor stem cells. The role of mutations mentioned is not clear in pathogenesis of this disease. Hence, in this study, mutations in different stages of myeloproliferative disorders have been reviewed.

Keywords

• MPN
• Hematopoietic stem cells
• Mutation