Mutations In Amlassociated Transcription Factors Cebpa

The CEBPA gene encodes a transcription factor expressed mainly in myelomonocytic cells that is essential for granulopoiesis, showing cell-type-specific and differentiation-stage-specific expression patterns. Mutations in CEBPA have been reported in 7-11% of AML patients.47 48 These include N-terminal nonsense mutations resulting in a premature termination of the full-length protein with dominant-negative properties, and C-terminal in-frame mutations resulting in a decrease of DNA-binding potential. Interestingly, CEBPA mutations have been found predominantly in AML FAB subtypes Ml or M2, suggesting the induction of a stage-specific block in the differentiation pathway. Clinical studies have revealed that mutations in CEBPA confer a favorable prognosis in AML patients with normal cytogenetics,49 and among those classified in the intermediate-risk cytogenetic group.4748

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