[Clinical Characteristics and Prognosis of Acute Myeloid Leukemia Patients with Gene Mutation].

Objective: To investigate the clinical characteristics, coexisting gene mutations and prognosis of acute myeloid leukemia (AML) patients with gene mutation.

Methods: The clinical data of 370 newly diagnosed AML patients treated in our hospital from January 2008 to January 2021 was analyzed retrospectively, the next-generation sequencing technology was used to detect the mutated genes in those patients. The clinical characteristics of AML patients with mutations, the co-mutated genes of mutations, and the effect of mutation on prognosis were analyzed.

Results: A total of 23 patients (6.2%) with mutation was detected in 370 AML patients. Compared with non-mutation group, patients in mutation group were mostly normal karyotypes ( =0.037) and in low-risk cytogenetic stratification ( =0.028). The incidence of and in mutation group was significantly higher than that in non-mutation group ( =0.010, =0.009). There were no statistically significant differences between the two groups in terms of sex, age, white blood cell count (WBC), platelet count, hemoglobin, bone marrow (BM) blast, induction chemotherapy regimen and CR rate ( >0.05). Among the 23 patients with mutation, the most common co-mutated genes were , (both 39.1%), (all 17.4%), and (both 13.0%). Survival analysis showed that there was no statistical difference in 5-year overall survival (OS) and leukemia-free survival (LFS) rates between patients with and without mutations in whole cohort (=370) ( =0.306, =0.308). Among 306 patients without , the 5-year OS and LFS rates in mutation group showed an increasing trend compared with non-mutation group, but the difference was not statistically significant ( =0.092, =0.056). Among 64 patients with , there was no statistically significant difference in 5-year OS rate between the mutation group and the non-mutation group ( =0.104), but the 5-year LFS rate of the mutation group was significantly decreased ( =0.047). Among the 23 patients with mutation, 16 cases received the "3+7" induction regimen, of which 12 cases received allogeneic hematopoietic stem cell transplantation (allo-HSCT); 7 cases received the "DCAG" induction regimen, of which 3 cases received allo-HSCT. The CR rate was not statistically different between the "3+7" regimen group and the "DCAG" regimen group ( =1.000). The 5-year OS rate and LFS rate in the transplantation group were significantly higher than the chemotherapy group ( =0.021, =0.020).

Conclusion: mutation is more common in AML patients with normal karyotype and low-risk cytogenetic stratification, and it is significantly associated with and co-mutations. The prognostic significance of is influenced by . The choice of "3+7" or "DCAG" induction regimen in patients with mutation does not affect their CR rate, while the choice of allo-HSCT can significantly improved the prognosis compared with chemotherapy only.