Detection Of C/EBP α Gene Mutations In Acute Myeloid Leukemia

Objective To explore the role of C/EBPα gene mutations in the pathogenesisof acute myeloid leukemia.Methods The whole coding region of C/EBPα gene were screened in 83 casesof acute myeloid leukemia and 11 normal controls by PCR-SSCP andsequencing.Results Ten mutations were found in 9 of 83 (10.8%) patients with acutemyeloid leukemia by PCR-SSCP. There are 5 duplications, 3 deletion and 1single base replacement confirmed by DNA sequencing. All of these are newmutation, and haven't typical chromosome translocation. We detected 3C/EBPα gene mutations in 3 of 29 (10.3%) M3 patients, and one of them is thelarge deletion of N terminal of C/EBPα gene. It is the first report that C/EBPαgene were detected in M₃ patients.Conclusions Different mutation types of C/EBPα gene exist in patients withAML and these mutations are related with the pathogenesis of acute myeloidleukemia. C/EBPα gene mutations exist in different AML , incloud M1,M2,M3,M₄.