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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. ASXL1 mut  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. ASXL1 mut  clustered in ELN2017 intermediate-risk group ( p  = .028). In the context of intermediate-risk, ASXL1 mut  had a worse overall survival(OS) ( p  = .038) and Relapse-free survival(RFS) ( p  = .016) than ASXL1 wt . When coexisting DNMT3A or TET2 mutations, ASXL1 mut /DNMT3A mut  genetype revealed a superior OS than ASXL1 mut /DNMT3A wt  ( p  = .027), and ASXL1 mut /TET2 mut  confered a worse RFS than ASXL1 mut /TET2 wt  ( p  = .031). No significant prognosis impact of VAF (a cutoff value of 30%) and clone ranks of ASXL1 mut  were observed in this corhort. Our study provided a new understanding of characteristics of ASXL1 mut  AML.

leukemia and lymphoma

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