Abstract
The diagnosis of family acute myeloid leukemia / myelodysplastic syndrome (AML/MDS) associated with CEBPA requires a special interrogation about family history, specific genetic studies and a family counselling. CEBPA main function is fundamental to the development of myeloid maturation, erythropoiesis and myeloid secondary granule constitution. We describe a case of family AML/MDS where 3 members carry a novel mutation variant in the CEBPA gene.
References
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