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Cited by 566

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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

Open access
Wouters, Bas J., Löwenberg, Bob, Erpelinck-Verschueren, Claudia A. J., van Putten, Wim L. J., Valk, Peter J. M., Delwel, Ruud·2009·Blood

Abstract

Mutations in CCAAT/enhancer binding protein α (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.

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Crossref · 10.1182/blood-2008-09-179895

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Metadata

Authors
Wouters, B. J., Löwenberg, B., Erpelinck-Verschueren, C. A. J., van Putten, W. L. J., Valk, P. J. M., & Delwel, R.
Venue
Blood
Published
2009-03-26
Volume
113
Issue
13
Pages
3088-3091
ISSN
  • 0006-4971 (ISSN-L)
  • 1528-0020
OpenAlex
W1965113891
Cited by
566
References
20
FWCI
29.52
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: 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. https://app.cochat.ai/papers/10.1182/blood-2008-09-179895
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Wouters, B. J., Löwenberg, B., Erpelinck-Verschueren, C. A. J., van Putten, W. L. J., Valk, P. J. M., & Delwel, R. (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. Blood. https://doi.org/10.1182/blood-2008-09-179895

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