References
- Byrd JC, Mrozek K, Dodge RK, Carroll AJ, Edwards CG, Arthur DC, et al. Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461). Blood 2002;100:4325-36. https://doi.org/10.1182/blood-2002-03-0772
- Grimwade D, Walker H, Oliver F, Wheatley K, Harrison C, Harrison G, et al. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties. Blood 1998;92:2322-33.
- Mrozek K, Heerema NA, Bloomfield CD. Cytogenetics in acute leukemia. Blood Rev 2004;18:115-36. https://doi.org/10.1016/S0268-960X(03)00040-7
- Estey E and Dohner H. Acute myeloid leukaemia. Lancet 2006;368:1894-907. https://doi.org/10.1016/S0140-6736(06)69780-8
- Lowenberg B, Griffin JD, Tallman MS. Acute myeloid leukemia and acute promyelocytic leukemia. Hematology Am Soc Hematol Educ Program 2003:82-101.
- Schlenk RF, Dohner K, Krauter J, Frohling S, Corbacioglu A, Bullinger L, et al. Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. New Engl J Med 2008;358:1909-18. https://doi.org/10.1056/NEJMoa074306
- Scholl S, Fricke HJ, Sayer HG, Hoffken K. Clinical implications of molecular genetic aberrations in acute myeloid leukemia. J Cancer Res Clin Oncol 2009;135:491-505. https://doi.org/10.1007/s00432-008-0524-x
- Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med 2010;363:2424-33. https://doi.org/10.1056/NEJMoa1005143
- Abbas S, Lugthart S, Kavelaars FG, Schelen A, Koenders JE, Zeilemaker A, et al. Acquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia: prevalence and prognostic value. Blood 2010;116:2122-6. https://doi.org/10.1182/blood-2009-11-250878
- Metzeler KH, Maharry K, Radmacher MD, Mrozek K, Margeson D, Becker H, et al. TET2 mutations improve the new European LeukemiaNet risk classification of acute myeloid leukemia: a Cancer and Leukemia Group B study. J Clin Oncol 2011;29:1373-81. https://doi.org/10.1200/JCO.2010.32.7742
- Pabst T and Mueller BU. Complexity of CEBPA dysregulation in human acute myeloid leukemia. Clin Cancer Res 2009;15:5303-7. https://doi.org/10.1158/1078-0432.CCR-08-2941
- Renneville A, Boissel N, Gachard N, Naguib D, Bastard C, de Botton S, 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 2009;113:5090-3. https://doi.org/10.1182/blood-2008-12-194704
- Wouters BJ, Lowenberg B, Erpelinck-Verschueren CA, van Putten WL, Valk PJ, Delwel R. 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 2009;113:3088-91. https://doi.org/10.1182/blood-2008-09-179895
- Dufour A, Schneider F, Metzeler KH, Hoster E, Schneider S, Zellmeier E, et al. Acute myeloid leukemia with biallelic CEBPA gene mutations and normal karyotype represents a distinct genetic entity associated with a favorable clinical outcome. J Clin Oncol 2010;28:570-7. https://doi.org/10.1200/JCO.2008.21.6010
- Taskesen E, Bullinger L, Corbacioglu A, Sanders MA, Erpelinck CA, Wouters BJ, et al. 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 2011;117:2469-75. https://doi.org/10.1182/blood-2010-09-307280
- Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al., eds. WHO classification of tumours of haematopoietic and lymphoid tissues. 4th ed. Lyon: International Agency for Research on Cancer, 2008.
- Pabst T, Eyholzer M, Fos J, Mueller BU. Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis. Br J Cancer 2009; 100:1343-6. https://doi.org/10.1038/sj.bjc.6604977
- Lin LI, Chen CY, Lin DT, Tsay W, Tang JL, Yeh YC, et al. Characterization of CEBPA mutations in acute myeloid leukemia: most patients with CEBPA mutations have biallelic mutations and show a distinct immunophenotype of the leukemic cells. Clin Cancer Res 2005;11:1372-9. https://doi.org/10.1158/1078-0432.CCR-04-1816
- Fuchs O, Provaznikova D, Kocova M, Kostecka A, Cvekova P, Neuwirtova R, et al. CEBPA polymorphisms and mutations in patients with acute myeloid leukemia, myelodysplastic syndrome, multiple myeloma and non-Hodgkin's lymphoma. Blood Cells Mol Dis 2008;40:401-5. https://doi.org/10.1016/j.bcmd.2007.11.005
- Ishikawa Y, Kiyoi H, Tsujimura A, Miyawaki S, Miyazaki Y, Kuriyama K, et al. Comprehensive analysis of cooperative gene mutations between class I and class II in de novo acute myeloid leukemia. Eur J Haematol 2009;83:90-8. https://doi.org/10.1111/j.1600-0609.2009.01261.x
- Pabst T, Mueller BU, Zhang P, Radomska HS, Narravula S, Schnittger S, et al. Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. Nat Genet 2001;27:263-70. https://doi.org/10.1038/85820
- Snaddon J, Smith ML, Neat M, Cambal-Parrales M, Dixon-McIver A, Arch R, et al. Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2. Genes Chromosomes Cancer 2003;37:72-8. https://doi.org/10.1002/gcc.10185
- Barjesteh van Waalwijk van Doorn-Khosrovani S, Erpelinck C, Meijer J, van Oosterhoud S, van Putten WL, Valk PJ, et al. Biallelic mutations in the CEBPA gene and low CEBPA expression levels as prognostic markers in intermediate-risk AML. Hematol J 2003;4:31-40. https://doi.org/10.1038/sj.thj.6200216
- Gombart AF, Hofmann WK, Kawano S, Takeuchi S, Krug U, Kwok SH, et al. Mutations in the gene encoding the transcription factor CCAAT/ enhancer binding protein alpha in myelodysplastic syndromes and acute myeloid leukemias. Blood 2002;99:1332-40. https://doi.org/10.1182/blood.V99.4.1332
- Frohling S, Schlenk RF, Stolze I, Bihlmayr J, Benner A, Kreitmeier S, et al. CEBPA mutations in younger adults with acute myeloid leukemia and normal cytogenetics: prognostic relevance and analysis of cooperating mutations. J Clin Oncol 2004;22:624-33. https://doi.org/10.1200/JCO.2004.06.060
- Resende C, Regalo G, Duraes C, Carneiro F, Machado JC. Genetic changes of CEBPA in cancer: mutations or polymorphisms? J Clin Oncol 2007;25:2493-4; author reply 4-5. https://doi.org/10.1200/JCO.2007.10.7227
- Wouters BJ, Louwers I, Valk PJ, Lowenberg B, Delwel R. A recurrent inframe insertion in a CEBPA transactivation domain is a polymorphism rather than a mutation that does not affect gene expression profilingbased clustering of AML. Blood 2007;109:389-90. https://doi.org/10.1182/blood-2006-08-042325
- Szankasi P, Ho AK, Bahler DW, Efimova O, Kelley TW. Combined testing for CCAAT/enhancer-binding protein alpha (CEBPA) mutations and promoter methylation in acute myeloid leukemia demonstrates shared phenotypic features. Leuk Res 2011;35:200-7. https://doi.org/10.1016/j.leukres.2010.09.018
- Lin TC, Hou HA, Chou WC, Ou DL, Yu SL, Tien HF, et al. CEBPA methylation as a prognostic biomarker in patients with de novo acute myeloid leukemia. Leukemia 2011;25:32-40. https://doi.org/10.1038/leu.2010.222
Cited by
- CEBPA gene mutations in Egyptian acute myeloid leukemia patients: impact on prognosis vol.18, pp.2, 2012, https://doi.org/10.1179/1607845412y.0000000032
- CCAAT/enhancer binding protein α gene expression in Egyptian patients with acute myeloid leukemia vol.25, pp.3, 2013, https://doi.org/10.1016/j.jnci.2013.02.002
- Prognostic implications of CEBPA mutations in pediatric acute myeloid leukemia: a report from the Japanese Pediatric Leukemia/Lymphoma Study Group vol.4, pp.None, 2012, https://doi.org/10.1038/bcj.2014.47
- Characterization of CEBPA Mutations and Polymorphisms and their Prognostic Relevance in De Novo Acute Myeloid Leukemia Patients vol.16, pp.9, 2015, https://doi.org/10.7314/apjcp.2015.16.9.3785
- Two novel CEBPA mutations in a Turkish patient with acute myeloid leukemia vol.23, pp.2, 2020, https://doi.org/10.2478/bjmg-2020-0024
- Novel insights of acute myeloid leukemia with CEBPA deregulation: Heterogeneity dissection and re-stratification vol.163, pp.None, 2021, https://doi.org/10.1016/j.critrevonc.2021.103379