Background:

Epigenetic modifier gene mutations (EMM) have been reported to be associated with poor prognosis in acute myeloid leukemia (AML). Whether allogeneic stem cell transplantation (allo-HSCT) can improve outcomes in this patients remains unknown.

Material:

/Methods: This study retrospectively collected clinical information of 353 AML patients with gene mutations detected by next-generation sequencing (NGS) and analyzed the therapeutic effect of allogeneic stem cell transplantation in acute myeloid leukemia patients with epigenetic modifier gene mutations.

Results:

EMM-positive patients tended to have inferior OS compared with EMM-negative patients (p = 0.065, HR = 1.343, 95%CI: 0.981–1.838), EMM-positive patients had inferior LFS (p = 0.031, HR = 1.385, 95%CI: 1.030–1.863). In EMM-positive patients, multivariate analysis showed that patients who received allo-HSCT had a superior OS (yes vs. no, p < 0.001, HR = 0.213, 95%CI: 0.134–0.339, Table 3) and LFS (yes vs. no, p < 0.001, HR = 0.303, 95%CI: 0.199–0.461, Table 3) compared with patients who did not receive allo-HSCT. A total of 220 patients received allo-HSCT in all patients. Univariate analysis in patients undergoing allo-HSCT showed that EMM was not a risk factor for OS (EMM-positive vs. EMM-negative, p = 0.470, HR = 1.192, 95%CI: 0.740–1.920) and LFS (EMM-positive vs. EMM-negative, p = 0.323, HR = 1.235, 95%CI: 0.813–1.876).

Conclusion:

EMM tended to be a poor risk factor for OS and was a poor risk factor for LFS in our cohort. Allo-HSCT might improve the OS and LFS of EMM-positive patients.