[Analysis of Gene Mutations and Clinical Characteristics in Patients with t(8;21) Acute Myeloid Leukemia].

Objective: To investigate the occurrence of mutation in patients with t(8;21) acute myeloid leukemia (AML) and its correlation with some clinical parameters.

Methods: The clinical and laboratory data of 167 newly diagnosed AML patients with t(8;21) translocation were analyzed retrospectively. High-throughput DNA sequencing technology combined with Sanger sequencing method was used to detect 112 gene mutations. The occurrence of gene mutation and its influence on the remission rate after chemotherapy were analyzed.

Results: Among 167 patients with t(8;21) AML, 15 patients (9.0%) carried mutations, including 6 cases of membrane proximal region mutations and 9 cases of truncation mutations in the cytoplasmic tail. The most common coexisting mutations of were (40.0%), (33.3%), (26.7%), (20.0%), (20.0%), (13.3%), etc. Compared with the wild type, the mutant group had a higher mutation rate of DNA methylation-related genes（ <0.001）. The median peripheral white blood cell (WBC) count of patients with gene mutation was 5.80 (3.20-8.56)×10/L at initial diagnosis, which was significantly lower than 8.80 (5.26-19.92)×10/L of the wild-type patients ( =0.017). There was no significant difference between the two groups in sex, median age, FAB classification, hemoglobin level, platelet count, etc. ( >0.05). The CR rate of the gene mutation group (100%) was significantly higher than that of the wild-type group (86.8%), but the difference was not statistically significant ( >0.05). The gene mutation group had a significantly higher CD19 positive rate and a higher -X rate than the wild group (86.7% 47.4%, =0.004; 33.3% 13.2%, =0.037).

Conclusion: There is a high incidence of mutation in t (8;21) AML patients. The clinical characteristics and coexisting mutation genes of mutation-positive patients are different from those of wild-type patients.