CEBPA mutation in acute myeloid leukemia: prognostic impact of bZIP domain mutation
By:
Raj Roy and Prithibi Das
References
- Radomska HS, Huettner CS, Zhang P, Cheng T, Scadden DT, Tenen DG. CCAAT/enhancer binding protein alpha is a regulatory switch sufficient for induction of granulocytic development from bipotential myeloid progenitors. Mol Cell Biol 1998; 18: 4301–4314.
- Ley TJ, Miller C, Ding L, Raphael BJ, Mungall AJ, Robertson A, et al; Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med. 2013;368(22):2059–2074.
- Papaemmanuil E, Gerstung M, Bullinger L, Gaidzik VI, Paschka P, Roberts ND, et al. Genomic classification and prognosis in acute myeloid leukemia. N Engl J Med. 2016;374(23):2209–2221.
- Arber DA, Orazi A, Hasserjian RP, Borowitz MJ, Calvo KR, Kvasnicka HM, et al. International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022 Sep 15;140(11):1200–1228. doi:
10.1182/blood.2022015850 . PMID:35767897 ; PMCID:PMC9479031 . - Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia. 2022 Jul;36(7):1703–1719. doi:
10.1038/s41375-022-01613-1 . Epub 2022 Jun 22. PMID:35732831 ; PMCID:PMC9252913 . - Jaiswal S, Ebert BL. Clonal hematopoiesis in human aging and disease. Science. 2019;366(6465):eaan4673.
- Hartmut Döhner, Andrew H. Wei, Frederick R. Appelbaum, Charles Craddock, Courtney D. DiNardo, Hervé Dombret, et al. Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN.
Blood 2022; 140 (12): 1345–1377. doi: https://doi.org/10.1182/blood.2022016867. - 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(13):3088–3091.
- 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(8):1343–1346.
- Green CL, Koo KK, Hills RK, Burnett AK, Linch DC, Gale RE. Prognostic significance of CEBPA mutations in a large cohort of younger adult patients with acute myeloid leukemia: impact of double CEBPA mutations and the interaction with FLT3 and NPM1 mutations. J Clin Oncol. 2010;28(16):2739–2747.
- 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 Feb 1;28(4):570–7. doi:
10.1200/JCO.2008.21.6010 . Epub 2009 Dec 28. PMID:20038735 . - 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(8):2469–2475.
- Schlenk RF, Taskesen E, van Norden Y, Krauter J, Ganser A, Bullinger L, et al. The value of allogeneic and autologous hematopoietic stem cell transplantation in prognostically favorable acute myeloid leukemia with double mutant CEBPA. Blood. 2013;122(9):1576–1582.
- Kalbfleisch JD, Prentice RL. The Statistical Analysis of Failure Time Data. Hoboken, NJ: John Wiley & Sons, Inc; 2002.
- Wakita S, Sakaguchi M, Oh I, Kako S, Toya T, Najima Y, et al. Prognostic impact of CEBPA bZIP domain mutation in acute myeloid leukemia. Blood Adv. 2022 Jan 11;6(1):238–247. doi:
10.1182/bloodadvances.2021004292 . PMID:34448807 ; PMCID:PMC8753195 . - Taube F, Georgi JA, Kramer M, Stasik S, Middeke JM, Röllig C, et al. CEBPA mutations in 4708 patients with acute myeloid leukemia: differential impact of bZIP and TAD mutations on outcome. Blood. 2022 Jan 6;139(1):87–103. doi:
10.1182/blood.2020009680 . PMID:34320176 . - Tarlock K, Lamble AJ, Wang YC, Gerbing RB, Ries RE, Loken MR, et al. CEBPA-bZip mutations are associated with favorable prognosis in de novo AML: a report from the Children’s Oncology Group. Blood. 2021 Sep 30;138(13):1137–1147. doi:
10.1182/blood.2020009652 . Erratum in: Blood. 2022 Mar 10;139(10):1601. PMID:33951732 ; PMCID:PMC8570058 . - Georgi J-A, Taube F, Kramer M, Herold S, Schaefer-Eckart K, Schmitz N, et al. Differences between CEBPA bZIP and TAD mutations and their effect on outcome-an analysis in 4578 patients with acute myeloid leukemia [abstract]. Blood. 2016;128(22). Abstract 283.
Language: English
Page range: 29 - 35
Submitted on: Feb 4, 2024
Accepted on: Jun 24, 2024
Published on: Oct 28, 2024
Published by: Helenic Society of Medical Oncology
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year
Related subjects:
© 2024 Raj Roy, Prithibi Das, published by Helenic Society of Medical Oncology
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.