The DOI matches its Crossref record; 41 of the 41 references it cites were found in a registry or an index.
Prognostic impact, concurrent genetic mutations, and gene expression features of AML with CEBPA mutations in a cohort of 1182 cytogenetically normal AML patients: further evidence for CEBPA double mutant AML as a distinctive disease entity
Open accessAbstract
We evaluated concurrent gene mutations, clinical outcome, and gene expression signatures of CCAAT/enhancer binding protein alpha (CEBPA) double mutations (CEBPAdm) versus single mutations (CEBPAsm) in 1182 cytogenetically normal acute myeloid leukemia (AML) patients (16-60 years of age). We identified 151 (12.8%) patients with CEBPA mutations (91 CEBPAdm and 60 CEBPAsm). The incidence of germline mutations was 7% (5 of 71), including 3 C-terminal mutations. CEBPAdm patients had a lower frequency of concurrent mutations than CEBPAsm patients (P < .0001). Both, groups were associated with a favorable outcome compared with CEBPAwt (5-year overall survival [OS] 63% and 56% vs 39%; P < .0001 and P = .05, respectively). However, in multivariable analysis only CEBPAdm was a prognostic factor for favorable OS outcome (hazard ratio [HR] 0.36, P < .0001; event-free survival, HR 0.41, P < .0001; relapse-free survival, HR 0.55, P = .001). Outcome in CEBPAsm is dominated by concurrent NPM1 and/or FLT3 internal tandem duplication mutations. Unsupervised and supervised GEP analyses showed that CEBPAdm AML (n = 42), but not CEBPAsm AML (n = 18), expressed a unique gene signature. A 25-probe set prediction signature for CEBPAdm AML showed 100% sensitivity and specificity. Based on these findings, we propose that CEBPAdm should be clearly defined from CEBPAsm AML and considered as a separate entity in the classification of AML.
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Molecular landscape of acute myeloid leukemia in younger adults and its clinical relevance
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Metadata
- Authors
- Taskesen, E., Bullinger, L., Corbacioglu, A., Sanders, M. A., Erpelinck, C. A. J., Wouters, B. J., van der Poel-van de Luytgaarde, S. C., Damm, F., Krauter, J., Ganser, A., Schlenk, R. F., Löwenberg, B., Delwel, R., Döhner, H., Valk, P. J. M., & Döhner, K.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2011-02-24
- Volume
- 117
- Issue
- 8
- Pages
- 2469-2475
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2086915316
- Cited by
- 384
- References
- 41
- FWCI
- 14.55
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Taskesen, E., Bullinger, L., Corbacioglu, A., Sanders, M. A., Erpelinck, C. A. J., Wouters, B. J., van der Poel-van de Luytgaarde, S. C., Damm, F., Krauter, J., Ganser, A., Schlenk, R. F., Löwenberg, B., Delwel, R., Döhner, H., Valk, P. J. M., & Döhner, K. (2011). Prognostic impact, concurrent genetic mutations, and gene expression features of AML with CEBPA mutations in a cohort of 1182 cytogenetically normal AML patients: further evidence for CEBPA double mutant AML as a distinctive disease entity. Blood. https://doi.org/10.1182/blood-2010-09-307280
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