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Blood, 26 March 2009, Vol. 113, No. 13, pp. 3088-3091. Prepublished online as a Blood First Edition Paper on January 26, 2009; DOI 10.1182/blood-2008-09-179895.
MYELOID NEOPLASIA Double CEBPA mutations, but not single CEBPA mutations, define a subgroup of acute myeloid leukemia with a distinctive gene expression profile that is uniquely associated with a favorable outcomeDepartments of 1 Hematology and 2 Trials and Statistics, Erasmus University Medical Center, Rotterdam, The Netherlands
Mutations in CCAAT/enhancer binding protein
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| Copyright © 2009 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||
(CEBPA) are seen in 5% to 14% of acute myeloid leukemia (AML) and have been associated with a favorable clinical outcome. Most AMLs with CEBPA mutations simultaneously carry 2 mutations (CEBPAdouble-mut), usually biallelic, whereas single heterozygous mutations (CEBPAsingle-mut) are less frequently seen. Using denaturing high-performance liquid chromatography and nucleotide sequencing, we identified among a cohort of 598 newly diagnosed AMLs a subset of 41 CEBPA mutant cases (28 CEBPAdouble-mut and 13 CEBPAsingle-mut cases). CEBPAdouble-mut associated with a unique gene expression profile as well as favorable overall and event-free survival, retained in multivariable analysis that included cytogenetic risk, FLT3-ITD and NPM1 mutation, white blood cell count, and age. In contrast, CEBPAsingle-mut AMLs did not express a discriminating signature and could not be distinguished from wild-type cases as regards clinical outcome. These results demonstrate significant underlying heterogeneity within CEBPA mutation-positive AML with prognostic relevance. 
