Yan Q, Lin Y N, Huang X Q, Qian L Z, Ma J T, Zhang H, Chen L, Chen X J, Mi Y C, Ru K
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
SINO-US Diagnostics Lab, Tianjin 300385, China.
Zhonghua Xue Ye Xue Za Zhi. 2021 Jun 14;42(6):480-486. doi: 10.3760/cma.j.issn.0253-2727.2021.06.007.
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. 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. 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% 44.76%, 15.35% 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. 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.
分析初发急性髓系白血病（AML）患者多种融合基因的遗传图谱，并研究免疫表型和突变特征。回顾性分析了2016年至2020年4192例初发AML患者的多种融合基因结果。此外，还对高通量方法获得的免疫表型数据和突变结果进行了统计调查和相关性分析。①在52个靶点中，在1948例（46.47%）AML患者中检测到29种不同类型的融合基因，呈“指数分布”。②随着年龄增长，融合基因患者数量先增加后逐渐减少。儿童融合基因和MLL重排的总发生率显著高于成人（69.18%对44.76%，15.35%对8.36%）。③MLL重排患者中涉及FLT3和RAS信号通路的突变最为常见。④MLL或NUP98重排的AML患者未发现特定的免疫表型特征。近一半的AML患者伴有特定融合基因表达，通过多重PCR检测，儿童和成人患者中不同融合基因的比例不同。这些AML患者的基因突变和免疫表型具有一定规律。
