Objective: To explore mutational characteristics of acute myeloid leukemia (AML) patients with CBFβ-MYH11+ and analyze the correlation between the mutations and partial clinical characteristics.
Methods: A total of 62 AML patients with CBFβ-MYH11+ were included and 51 candidate genes were screened for their mutations using targeted next-generation sequencing (NGS). The exon 12 of NPM1 , FLT3-ITD , and TAD, bZIP domains of CEBPA were detected by genomic DNA-PCR combined with sanger sequencing.
Results: Compared with RUNX1-RUNX1T1 + group, the patients with CBFβ-MYH11+ showed higher age, peripheral WBC level, initial induced complete remission (CR) rate, more commonly carried chromosomal abnormalities such as +22, and lower deletion ratio of sex chromosome (-X or -Y) (P<0.05). In AML patients with CBFβ-MYH11+, the most common mutation was NRAS , followed by KIT, KRAS , and FLT3-TKD . Compared with RUNX1-RUNX1T1+ group, NRAS and FLT3-TKD were more frequently mutated in patients with CBFβ-MYH11+ (51.6% vs 18.7%, 17.7% vs 3.8%) (P<0.05).
Conclusion: The genomic landscape and clinical characteristics of AML patients with CBFβ-MYH11+ are different from patients with RUNX1-RUNX1T1 +.
题目: CBFβ-MYH11阳性急性髓系白血病患者的分子遗传学特征分析.
目的: 探讨CBFβ-MYH11 + 急性髓系白血病（AML）患者的基因突变谱，并分析其与部分临床参数的相关性。.
方法: 采用高通量DNA测序技术检测62例CBFβ-MYH11+ AML患者51种靶基因突变；采用基因组DNA-PCR联合Sanger测序法检测 NPM1基因12号外显子、FLT3-ITD 及 CEBPA的 TAD, bZIP两个功能结构域的突变发生情况。.
结果: 与 RUNX1-RUNX1T1+ AML患者相比， CBFβ-MYH11+ AML患者年龄较高，有更高的白细胞水平，+22核型的检出率更高，初次诱导完全缓解率更高，性染色体缺失（-X或-Y）比例较低，差异有统计学意义（P<0.05）。 CBFβ-MYH11+ AML患者以NRAS、KIT、KRAS、FLT3-TKD 突变为主， NRAS、FLT3-TKD突变率明显高于 RUNX1-RUNX1T1+ AML患者（51.6% vs 18.7%，17.7% vs 3.8%），差异均有统计学意义（P<0.05）。.
结论: CBFβ-MYH11+ AML患者与 RUNX1-RUNX1T1+ AML患者有不一样的临床参数特征及基因突变谱。.
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