急性髓系白血病融合基因表达特点分析

OBJECTIVE: To analyze the genetic landscape of multiple fusion genes in patients with de novo acute myeloid leukemia（AML）and investigate the characteristics of immunophenotypes and mutations. METHODS: The results of multiple fusion genes from 4192 patients with de novo AML were retrospectively analyzed from 2016 to 2020. In addition, the immunophenotypical data and the mutational results from high-through put method were statistically investigated and correlated as well. RESULTS: ① Among the 52 targets, 29 different types of fusion genes were detected in 1948 patients （46.47％）with AML, which demonstrated an “exponential distribution”. ② As the age increased, the number of patients with fusion gene increased first and then decreased gradually. The total incidence rate of fusion genes and MLL rearrangment in children were significantly higher than those in adults（69.18％ vs 44.76％, 15.35％ vs 8.36％）. ③ The mutations involving FLT3 and RAS signaling pathway contributed most in patients with MLL rearrangment. ④ No specific immunophenotypic characteristics were found in AML patients with MLL or NUP98 rearrangements. CONCLUSION: Nearly half of AML patients were accompanied by specific fusion gene expression, the proportions of different fusion genes in pediatric and adults patients were different by multiple PCR. The gene mutations and immunophenotype of these AML patients have certain rules.