The prognostic impact of CEBPA mutation in acute myeloid leukemia patients undergoing allogeneic hematopoietic stem cell transplantation.

The presence of mutations in basic leucine zipper (bZIP) region of the CEBPA gene in patients with acute myeloid leukemia (AML) is defined as a favorable risk marker according to the guidelines. A total of 173 CEBPA-mutated AML patients receiving allogeneic hematopoietic stem cell transplantation (allo-HSCT) were retrospectively recruited, compared with 345 control patients selected by propensity score matching. Patients carrying CEBPAmut had a better 5-year PFS than CEBPAwt group (60.8% vs. 55.0%, P = 0.016). Failure to achieve complete remission after first induction chemotherapy, the presence of CEBPA mutation before allo-HSCT and the absence of maintenance therapy were proven to be statistically significant factors for worse survival (all P < 0.001). Surprisingly, survival analysis revealed that patients with nontypical in-frame bZIP mutations or harboring both FLT3-ITD and CEBPA mutations had a favorable outcome of PFS (CEBPAin-frame bZIP 59.9% vs. CEBPAno in-frame bZIP 63.3% vs. CEBPAwt 55.0%, P = 0.045; CEBPAmut/FLT3-ITDmut 75.9% vs. CEBPAmut/FLT3-ITDwt 57.3% vs. CEBPAwt 55.0%, P = 0.02). Conversely, the presence of GATA2 mutations showed no benefit. Our findings suggest that CEBPAmut patients with nontypical in-frame shift in bZIP region or with the co-mutation of FLT3-ITD could benefit from allo-HSCT.