Variable outcome and methylation status according to CEBPA mutant type in double-mutated acute myeloid leukemia patients and the possible implications for treatment.

ABSTRACT: Although CEBPA double-mutated (CEBPA^DM) acute myeloid leukemia is considered to be a favorable-risk disease, relapse remains a major cause of treatment failure. Most CEBPA^DM patients have a classic biallelic mutant combination with an N-terminal mutation leading to production of p30 protein plus a C-terminal loss-of-function in-frame indel mutation (CEBPA^Classic-DM), but approximately one-third of cases have one or more non-classic mutations, with diverse combinations reported, and there is little information on the consequences of such mutants. We evaluated outcome in a cohort of 104 CEBPA^DM patients, 79 CEBPA^Classic-DM and 25 with non-classic mutants, and found that the latter may have poorer

SUBMITTER: El-Sharkawi D 

PROVIDER: S-EPMC5777194 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature