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Revista Argentina de Hematología

Abstract

Volumen:    21    # Number : 2

Publication Date :    Mayo - Agosto    Year:    2017

   ARTÍCULO ORIGINAL

Family acute myeloid leukemia / myeloid dysplastic syndrome associated with CEBPA

Authors: Iastrebner M, Dourisboure R, Matilla Méndez L, Tamashiro M, Chavarri A, Sorrentino M, López A, Rigl R, Zanardi C, Rapan L, Ortiz M, Campestri R, Benasayag S.

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.

Key words: Family acute myeloid leukemia / myelodysplastic syndrome, CEBPA Family counseling

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