References
- Taskesen E, Bullinger L, Corbacioglu A, 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.
- Green CL, Koo KK, Hills RK, et al. 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.
- Pabst T, Eyholzer M, Haefliger S, et al. Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. J Clin Oncol. 2008;26(31):5088–5093.
- Grossmann V, Schnittger S, Schindela S, et al. Strategy for robust detection of insertions, deletions, and point mutations in CEBPA, a GC-rich content gene, using 454 next-generation deep-sequencing technology. J Mol Diagn. 2011;13(2):129–136.
- Tawana K, Wang J, Renneville A, et al. Disease evolution and outcomes in familial AML with germline CEBPA mutations. Blood. 2015;126(10):1214–1223.
- Pabst T, Mueller BU, Zhang P, et al. Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. Nat Genet. 2001;27(3):263–270.
- Smith ML, Cavenagh JD, Lister TA, et al. Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med. 2004;351(23):2403–2407.
- Godley LA, Shimamura A. Genetic predisposition to hematologic malignancies: management and surveillance. Blood. 2017;130(4):424–432.
- Ram J, Flamm G, Balys M, et al. Index case of acute myeloid leukemia in a family harboring a novel CEBPA germ line mutation. Blood Adv. 2017;1(8):500–503.
- Pathak A, Seipel K, Pemov A, et al. Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family. Haematologica. 2016;101(7):846–852.
- Rio-Machin A, Vulliamy T, Hug N, et al. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nat Commun. 2020;11(1):1044.
- DiNardo CD. Getting a handle on hereditary CEBPA mutations. Blood. 2015;126(10):1156–1158.
- Ng CWS, Kosmo B, Lee PL, et al. CEBPA mutational analysis in acute myeloid leukaemia by a laboratory-developed next-generation sequencing assay. J Clin Pathol. 2018;71(6):522–531.
- Xiao H, Shi J, Luo Y, et al. First report of multiple CEBPA mutations contributing to donor origin of leukemia relapse after allogeneic hematopoietic stem cell transplantation. Blood. 2011;117(19):5257–5260.