Edit ID | Edit Comment | Time | |
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402285 | updating cebpa interp | 11/12/2018 3:41 PM |
Mutations of the transcription factor CEBPA (CCAAT/enhancer binding protein alpha) have been reported in approximately 13-19% of patients with acute myeloid leukemia (AML) and a normal karyotype. Two types of mutations have been reported: N-terminal changes which result in a truncated dominant negative isoform lacking one of the N terminal domain transactivation domains and C-terminal mutations which are in-frame insertions or deletions affecting the leucine zipper and preventing dimerization and DNA binding. Patients may carry both N- and C-terminal mutations affecting different alleles. There appears to be a beneficial prognostic effect of CEBPA mutation, but may be limited to patients with two different CEBPA mutations, so-called double mutant CEBPA(biallelic mutations) rather than patients with a single CEBPA mutation.
Mutations of the transcription factor CEBPA (CCAAT/enhancer binding protein alpha) have been reported in approximately 15% of patients with acute myeloid leukemia (AML) with a normal karyotype. CEBPA plays a role in the differentiation of granulocytes. Two types of mutations have been reported: N-terminal changes which result in a truncated dominant negative isoform lacking one of the N terminal domain transactivation domains and C-terminal mutations which are in-frame insertions or deletions affecting the leucine zipper and preventing dimerization and DNA binding. Patients may carry both N- and C-terminal mutations affecting different alleles. Isolated, biallelic ("double") mutations (not single mutation) of CEBPA appear to be associated with a favorable-risk group of normal karyotype AML.