Description
'AML with mutated CEBPA' is a provisional entity in the WHO classification of acute myeloid leukemia (AML) and is recommended to be tested for in patients with AML. CEBPA mutations are particularly associated with cytogenetically normal AML (CN-AML). CEBPA is an intronless gene that is required for granulocyte formation in mice. N-terminal nonsense mutations result in a dominant negative C/EBP-alpha protein while C-terminal mutations reduce the DNA-binding potential of this transcription factor. CEBPA mutations are associated with a favorable prognosis, however, NPM1 and FLT3 mutations should also be assessed in CN-AML patients as concurrent mutations may have prognostic implications.
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Variants (3)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 594 | BIALLELIC INACTIVATION | loss_of_function_variant | |
| 29 | Mutation | loss_of_function_variant,transcript_variant | |
| 28 | N-TERMINAL FRAME SHIFT | frameshift_truncation,dominant_negative_variant |