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Gene mutations play an important role in the development and progression of AML1‑ETO‑positive acute myeloid leukemia (AE‑AML). Nevertheless, the gene mutation profile in this subtype of leukemia remains unclear. In addition, the clinical and prognostic effects of different mutant genes may be underestimated. In the present study, gene sequencing was conducted at diagnosis and relapse with next‑generation sequencing (NGS) in 64 patients with newly diagnosed AE‑AML, and 44/64 (68.8%) patients were found to present with a median of 2 (1‑10) recurrent mutations at diagnosis and 6/11 (54.5%) cases were found to present with genetic alterations at relapse. c‑KIT mutation was the most common in this cohort, with an incidence of 27/64 (42.2%) at diagnosis, followed by ASXL1 (n=10, 15.6%), MET (n=8, 12.5%), MLH1 (n=6, 9.4%), TET2 (n=5, 7.8%), and FBXW7, TP53 and DNMT3A (n=5, 7.8%). Survival analysis showed that c‑KIT (exon 8, 17) but not exon 10 adversely affected survival. In addition, ASXL1 and TP53 were poor impact factors for recurrence‑free survival (RFS) (P&lt;0.05), and ASXL1, MET, FBXW7 and TP53 had a negative impact on overall survival (OS) (P&lt;0.05). Multivariate analysis showed that c‑KIT (exon 8, 17) [RFS: hazard ratio (HR) 3.36, 95% confidence interval (CI) 1.54‑7.34, P=0.002; OS: HR 2.84, 95% CI 1.20‑6.71, P=0.018] and ASXL1 mutations (RFS: HR 3.13, 95% CI 1.34‑7.32, P=0.009; OS: HR 3.94, 95% CI 1.62‑9.61, P=0.003) were independent adverse factors for survival. Further, co‑mutation of these two genes showed even worse effect on disease outcome. Collectively, additional gene mutations play critical role in AE‑AML. C‑KIT and ASXL1 mutations are the two most common mutations in this subtype of leukemia. C‑KIT (exon 8, 17) but not exon 10, and also the ASXL1 mutation poorly affect the disease outcome of this disease.

Gene mutation profile and risk stratification in AML1‑ETO‑positive acute myeloid leukemia based on next‑generation sequencing