Immunophenotype distinctions of CEBPA mutation subtypes in acute myeloid leukemia.

INTRODUCTION

Acute myeloid leukemia (AML) patients with CEBPA double mutation (CEBPA ) were associated with distinct immunophenotypes and prognosis. Recently, both International Consensus Classification (ICC) and World Health Organization (WHO) classifications incorporated BZIP single mutations (CEBPA ) into the favorable risk group. However, the immunophenotypes of CEBPA mutations have not been characterized, especially when compared with the immunophenotypes of CEBPA .

METHODS

Retrospectively, we investigated and compared the immunophenotypes of AML with CEBPA mutations. Randomforest model and XGBoost algorithm were used to set up a scoring system based on the immunophenotypes of those patients.

RESULTS

In a total of 967 AML patients: 218 were CEBPA (198 consisted of mutations in the BZIP region [CEBPA ], 20 were double mutations outside BZIP region [CEBPA ]), 117 were CEBPA (54 CEBPA and 63 were single mutations outside BZIP region [CEBPA ]) and the others were wildtype CEBPA (CEBPA ). Patients with CEBPA , CEBPA and CEBPA shared the distinct immunophenotype of CD7 CD34 MPO HLA-DR CD19 , in contrast to patients with CEBPA and CEBPA who showed reduced expression of CD7, HLA-DR, MPO, CD34 and a higher expression of CD19. Based on these immunophenotypes, we developed a scoring system to preemptively identify AML with CEBPA and CEBPA and validated it internally and externally.

CONCLUSIONS

AML with CEBPA , CEBPA , and CEBPA shared similar immunophenotypic profiles, whereas profoundly differed from the CEBPA and CEBPA AML.