CEBPA mutations
CCAAT/enhancer binding protein α (CEBP/α) is a leucine zipper transcription factor with a pivotal role in myeloid differentiation. Mutations in the CEBPA gene have been described in approximately 10% of patients with AML, in particular those with intermediate-risk karyotypes. They can occur across the whole gene but cluster in two main hotspots.
AML with mutated CEBPA is a diagnostic category in the current WHO classification of hematopoietic neoplasms. In addition, CEBPA mutation on both alleles (double mutation status) is considered a good prognostic feature in adults with newly diagnosed AML who have a normal karyotype or do not contain an alternate diagnostic genetic abnormality. Thus, evaluation for CEBPA mutations is necessary for accurate diagnosis and CEBPA mutant-positive patients should be grouped in the favorable risk category and should therefore not receive a transplant in first remission.
References:
- Wouters B, et al. (2009) Blood; 113:3088-3091
- Pabst T, et al. (2009) Br J Cancer; 100:1343-1346
- Swerdlow S, et al. (2008) WHO Press 2008; pp 109-145
