The CEBPA gene, a myeloid transcription factor, is mutated in a subset of acute myeloid leukemia (AML), particularly those with chromosome analyses showing normal diploid karyotype, Cytogenetically Normal (CN). CN-AML that have CEBPA mutations show favorable outcome compared to other groups of CN-AML.
Testing for CEBPA mutation, along with NPM1 (test code 16158-NPM (Exon 12) Mutation Analysis, Cell-based) is recommended for all patients with CN-AML.