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CEBPA

From www.haematologyetc.co.uk



Gene affected:
CEBPA - CCAAT/enhancer-binding protein alpha


Clinical significance
CEPBA mutation is associated with a more favourable outcome in AML. Mutation of CEBPA affecting both alleles of the gene has its own classification in the WHO 2016 classification; "AML with biallelic mutations of CEBPA" with favourable outcome.



NGS panel gene coverage

The NGS panel provides full gene sequence coverage


Function of gene

CEBPA is a key hematopoietic transcription factor involved in lineage-specific myeloid differentiation. Two types of lesion may affect the gene: both types reduce function of the mature protein causing a failure of effective myeloid cell maturation (i.e. "loss of function" mutations).




Occurrence:


Adult AML (5-14%)
Often M1/M2 AML, with normal cytogenetics, associated with more favourable outcomes, including a longer progression free survival and overall survival
Childhood AML (20%)
Often M1/M2 AML, with normal cytogenetics, associated with more favourable outcomes, including a longer progression free survival and overall survival
Myelodysplasia (<5%)
Associated with MDS with multilineage dysplasia and MDS with excess of blasts. The prognostic implications are unclear.


Links

GeneWiki link: Gene Wiki entry for CEBPA
References
1. Reference describing prognostic impact in pediatric cases
2. Reference describing impact in adult cases
3. Place in WHO 2017 and implications