Advances in the study of ASXL1 mutations in myeloid neoplasms

Abstract

In recent years, many studies on myeloid neoplasms have reported the occurrence of ASXL1 mutations, including myeloproliferative neoplasms (5%-35%), myelodysplastic syndrome (15%-50%), acute myelogenous leukemia (5%-15%), and so on. ASXL1 mutations include three types: frame-shift mutation, nonsense mutation, and missense mutation; among which, the first two have a great impact on the overall survival rate and disease-free survival rate of patients with myeloid neoplasms. At the same time, myeloid neoplasms patients with ASXL1 mutations have obvious clinical characteristics, and have significant differences in response to treatment and in prognosis compared with wild-type patients. The universality of ASXL1 mutation indicates that it is closely related to the occurrence and progress of myeloid neoplasms. In this paper, based on the current research data, the molecular structure and mutation characteristics of ASXL1 and its relationship with various myeloid tumors are reviewed. Key words: ASXL1 mutations; Myeloid neoplasms; Research progress