Gaining A Better "Sense" For Asxl1 Mutations In Myelofibrosis: Assessing The Variable Impact Of Frameshift, Nonsense, And Missense Mutations

Introduction: ASXL1 gene mutations commonly occur in myeloid diseases and are associated with inferior prognoses. They can occur as frameshift, nonsense or missense mutations. In myelofibrosis (MF) specifically, ASXL1 mutations are associated with worse overall survival (OS) and leukemia-free survival (LFS). While the general impact of ASXL1 mutations has been well-studied, the variable impact based on type of mutation is less clear. In CMML and MDS, frameshift and nonsense mutations correlate with shorter survival and increased risk of leukemic transformation. In this study, we aimed to analyze the role of ASXL1 mutations in MF while stratifying for type of mutation.