[Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFβ-MYH11 Positive].

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 +.