The characteristics and clinical prognosis analysis of ASXL1 mutations in Chinese adult patients with primary cytogenetically normal acute myeloid leukemia by next-generation sequencing

We analyzed 156 adult patients with primary cytogenetically normal AML for ASXL1 mutations and co-mutations using targeted next-generation sequencing with a panel of 34 genes associated with myeloid neoplasms. ASXL1mut were identified in 15(10%) patients, more frequent at an older age (≥60years) (p = .014), and had significant associations with co-mutations in TET2, KIT, CBL and SRSF2, whereas inversely correlated to NPM1 and CEBPA mutations. ASXL1mut clustered in ELN2017 intermediate-risk group (p = .028). In the context of intermediate-risk, ASXL1mut had a worse overall survival(OS) (p = .038) and Relapse-free survival(RFS) (p = .016) than ASXL1wt. When coexisting DNMT3A or TET2 mutations, ASXL1mut/DNMT3Amut genetype revealed a superior OS than ASXL1mut/DNMT3Awt (p = .027), and ASXL1mut/TET2mut confered a worse RFS than ASXL1mut/TET2wt (p = .031). No significant prognosis impact of VAF (a cutoff value of 30%) and clone ranks of ASXL1mut were observed in this corhort. Our study provided a new understanding of characteristics of ASXL1mut AML.