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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. This Article Full Text (PDF) Supplemental Methods, Tables, and Figures All Versions of this Article: blood-2008-09-179895v1 113/13/3088    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Wouters, B. J. Articles by Delwel, R. Search for Related Content PubMed PubMed Citation Articles by Wouters, B. J. Articles by Delwel, R. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted September 18, 2008 Accepted January 8, 2009 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 outcome Bas J. Wouters, Bob Lowenberg, Claudia A.J. Erpelinck-Verschueren, Wim L.J. van Putten, Peter J.M. Valk, and Ruud Delwel* Department of Hematology, Erasmus University Medical Center, Rotterdam, Netherlands Department of Trials and Statistics, Erasmus University Medical Center, Rotterdam, Netherlands * Corresponding author; email: h.delwel{at}erasmusmc.nl. Mutations in CCAAT/enhancer binding protein alpha (CEBPA) are seen in 5-14% of acute myeloid leukemia (AML) and have been associated with a favorable clinical outcome. Most AMLs with CEBPA mutations simultaneously carry two mutations (CEBPAdouble-mut), usually biallelic, while 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, i.e. 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. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: T. Pabst and B. U. Mueller Complexity of CEBPA Dysregulation in Human Acute Myeloid Leukemia Clin. Cancer Res., September 1, 2009; 15(17): 5303 - 5307. [Abstract] [Full Text] [PDF] I. H. I. M. Hollink, M. M. van den Heuvel-Eibrink, and C. M. Zwaan CEBPA resembles Roman god Janus Blood, June 25, 2009; 113(26): 6501 - 6502. [Full Text] [PDF] A. Renneville, N. Boissel, N. Gachard, D. Naguib, C. Bastard, S. de Botton, O. Nibourel, C. Pautas, O. Reman, X. Thomas, et al. The favorable impact of CEBPA mutations in patients with acute myeloid leukemia is only observed in the absence of associated cytogenetic abnormalities and FLT3 internal duplication Blood, May 21, 2009; 113(21): 5090 - 5093. [Abstract] [Full Text] [PDF]

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