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In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript. After initial studies suggested that all patients with CEBPA mutations carry a more favorable outcome [ 3 , 4 , 5 , 6 , 7 ], subsequent analyses have consistently demonstrated that this improved prognosis is confined to biallelic or double mutations dm CEBPA.
Dm CEBPA was shown to be associated with a distinct biology and to confer a more favorable clinical outcome, including higher rates of complete remission CR , reduced relapse risk, and increased overall survival OS , whereas single allele mutations were considered prognostically irrelevant [ 8 , 9 , 10 , 11 , 12 , 13 , 14 ].
However, several recent reports looking in more detail for the impact of individual mutations in CEBPA suggested that the specific clinical and molecular characteristics as well as the favorable prognosis were restricted to mutations within the basic leucine zipper region bZIP region of CEBPA , irrespective of their occurrence as double or single mutation [ 15 , 16 , 17 ]. However, there is evidence that even within this mutational subgroup, biological differences may exist depending on the particular type of CEBPA bZIP mutation.
These findings have provided the basis for a refined biological and clinical classification of CEBPA mutations. This persistent ambiguity might be due to the fact that few reports have investigated the impact of different CEBPA mutational constellations in more detail, so the evidence supporting either of these modifications is still limited.
