Objective: To explore the relationship between CCAAT/enhancer binding protein alpha (C/EBPalpha) gene mutations and the development of acute myeloid leukemia (AML).
Methods: The whole coding region of C/EBPalpha gene were screened in 48 cases of AML and 11 normal subjects by PCR-single strand conformation polymorphism (PCR-SSCP) and sequencing.
Results: C/EBPalpha mutations were detected in 5 of 48 AML patients. Four duplications and 1 deletion were confirmed by DNA sequencing. All of those are newly identified mutations.
Conclusions: Different mutation types of C/EBPalpha gene exist in a small number of patients with AML and might be related to the pathogenesis of some leukemias.