Infrequent hypermethylation of CEBPA promotor in acute myeloid leukaemia.

The gene CEBPA, encoding the transcription factor C/EBPalpha, is crucial for granulocyte differentiation. We investigated the frequency of aberrant CEBPA promotor methylation with the methylation-specific polymerase chain reaction in 70 patients with acute myeloid leukaemia (AML). Two patients, both with M2 morphology, were found to have methylated CEBPA. In one of them, the fusion gene AML1/ETO, reported to cause transcription repression of CEBPA, was also present, suggesting that more than one mechanism might collaborate to suppress CEBPA gene expression. Aberrant CEBPA methylation is infrequent in AML, but may occur preferentially in the M2 phenotype.