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: ①Among 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%) . ③The mutations involving FLT3 and RAS signaling pathway contributed most in patients with MLL rearrangment. ④No 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.
目的： 分析初诊急性髓系白血病（AML）患者融合基因表达情况，进一步探讨不同融合基因家族患者的免疫表型及基因突变的特点。 方法： 回顾性分析2016至2020年4192例初诊AML患者的多重融合基因筛查结果，并结合免疫表型分析以及高通量测序所获得的基因突变筛查结果，系统地进行差异性分析。 结果： ①4192例AML患者中1948例(46.47%)检出融合基因，共检出29种不同的融合基因，其阳性率呈现为"幂律分布"。②随着AML患者年龄增长，融合基因的阳性率先上升而后逐步下降。儿童患者融合基因总阳性率及MLL相关融合基因（MLL-FG）阳性率均显著高于成人患者（69.18%对44.76%，15.35%对8.36%）。③MLL-FG及NUP98相关融合基因（NUP98-FG）阳性患者伴随的基因突变均以FLT3及RAS信号通路相关基因为主。④MLL-FG及NUP98-FG阳性患者未见特异性的免疫表型特点。 结论： 采用多重PCR方法分析，近半数的AML患者伴有特异的融合基因表达，儿童和成人患者融合基因阳性类型构成比例存在差异。不同融合基因阳性AML患者常见的分子突变、免疫表型有一定规律。.
Keywords: Fusion genes; Gene mutation; Immunophenotype; Leukemia, myeloid, acute.