참고문헌
- Ahmad F, Rajput S, Mandava S, Das BR (2012). Molecular evaluation of CEBPA gene mutation in normal karyotype acute myeloid leukemia: a comparison of two methods and report of novel CEBPA mutations from Indian acute myeloid leukemia patients. Genet Test Mol Biomarkers, 16, 707-15. https://doi.org/10.1089/gtmb.2011.0317
- Bienz M, Ludwig M, Leibundgut EO, et al (2005). Risk assessment in patients with acute myeloid leukemia and a normal karyotype. Clin Cancer Res, 11, 1416-24. https://doi.org/10.1158/1078-0432.CCR-04-1552
- Cammenga J, Mulloy JC, Berguido FJ, et al (2003). Induction of C/EBPalpha activity alters gene expression and differentiation of human CD34+ cells. Blood, 101, 2206-14. https://doi.org/10.1182/blood-2002-05-1546
- Dufour A, Schneider F, Hoster E, et al (2012). Monoallelic CEBPA mutations in normal karyotype acute myeloid leukemia: independent favorable prognostic factor within NPM1 mutated patients. Ann Hematol, 91, 1051-63. https://doi.org/10.1007/s00277-012-1423-4
- Fasan A, Haferlach C, Alpermann T (2014). The role of different genetic subtypes of CEBPA mutated AML. Leukemia, 4, 794-803.
- Friedman AD (2002). Runx1, c-Myb, and C/EBPalpha couple differentiation to proliferation or growth arrest during hematopoiesis. J Cell Biochem, 86, 624-629. https://doi.org/10.1002/jcb.10271
- Friedman AD, McKnight SL (1990). Identification of two polypeptide segments of CCAAT/enhancer-binding protein required for transcriptional activation of the serum albumin gene. Genes Dev, 4, 1416-26. https://doi.org/10.1101/gad.4.8.1416
- Frohling S, Dohner H (2004). Disruption of C/EBPalpha function in acute myeloid leukemia. N Engl J Med, 351, 2370-2. https://doi.org/10.1056/NEJMp048241
- Frohling S, Scholl C, Gilliland DG, Levine RL (2005). Genetics of myeloid malignancies: pathogenetic and clinical implications. J Clin Oncol, 23, 6285-95. https://doi.org/10.1200/JCO.2005.05.010
- Fuchs O, Kostecka A, Provaznikova D, et al (2010). CCAAT/enhancer-binding protein alpha (CEBPA) polymorphisms and mutations in healthy individuals and in patients with peripheral artery disease, ischaemic heart disease and hyperlipidaemia. Folia Biol, 56, 51-7.
- Fuster O, Barragan E, Bolufer P et al (2012). Fragment length analysis screening for detection of CEBPA mutations in intermediate-risk karyotype acute myeloid leukemia. Ann Hematol, 91, 1-7. https://doi.org/10.1007/s00277-011-1234-z
- Gombart AF, Hofmann WK, Kawano S, et al (2002). Mutations in the gene encoding the transcription factor CCAAT/enhancer binding protein alpha in myelodysplastic syndromes and acute myeloid leukemias. Blood, 99, 1332-40. https://doi.org/10.1182/blood.V99.4.1332
- Greif PA, Dufour A, Konstandin NP, et al (2012). GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia. Blood, 120, 395-403. https://doi.org/10.1182/blood-2012-01-403220
- Grimwade D, Hills RK, Moorman AV et al (2010). Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom medical research council trials. Blood, 116, 354-65. https://doi.org/10.1182/blood-2009-11-254441
- Haferlach T, Bacher U, Alpermann T, et al (2012). Amount of bone marrow blasts is strongly orrelated to NPM1 and FLT3-ITD mutation rate in AML with normal karyotype. Leuk Res, 36, 51-8. https://doi.org/10.1016/j.leukres.2011.04.026
- Henegariu O, Heerema NA, Lowe WL, et al (2001). Improvements in cytogenetic slide preparation: controlled chromosome spreading, chemical aging and gradual denaturing. Cytometry, 43, 101-9. https://doi.org/10.1002/1097-0320(20010201)43:2<101::AID-CYTO1024>3.0.CO;2-8
- Kim S, Kim DH, Jang JH, et al (2012). Novel mutations in CEBPA in Korean Patients with acute myeloid leukemia with a normal karyotype. Ann Lab Med, 32, 153-7. https://doi.org/10.3343/alm.2012.32.2.153
- Leecharendkeat A, Tocharoentanaphol C, Auewarakul CU (2008). CCAAT/enhancer binding protein-alpha polymorphisms occur more frequently than mutations in acute myeloid leukemia and exist across all cytogenetic risk groups and leukemia subtypes. Int J Cancer, 123, 2321-6. https://doi.org/10.1002/ijc.23796
- Leroy H, Roumier C, Huyghe P, et al (2005). CEBPA point mutations in hematological malignancies. Leukemia, 19, 329-34. https://doi.org/10.1038/sj.leu.2403614
- Lin LI, Chen CY, Lin DT, et al (2005). 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, 11, 1372-9. https://doi.org/10.1158/1078-0432.CCR-04-1816
- Li HY, Deng DH, Huang Y, et al (2014). Favorable prognosis of biallelic CEBPA gene mutations in acute myeloid leukemia patients: A meta-analysis. Eur J Haematol, 94, 439-48.
- Mueller BU, Pabst T (2006). C/EBPalpha and the pathophysiology of acute myeloid leukemia. Curr Opin Hematol, 13, 7-14. https://doi.org/10.1097/01.moh.0000190110.08156.96
- Pabst T, Mueller BU (2009). Complexity of CEBPA dysregulation in human acute myeloid leukemia. Clin Cancer Res, 15, 5303-7. https://doi.org/10.1158/1078-0432.CCR-08-2941
- Pabst T, Mueller BU, Zhang P, et al (2001). Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. Nat Genet, 27, 263-70. https://doi.org/10.1038/85820
- Pastore F, Kling D, Hoster E, et al (2014). Long-term follow-up of cytogenetically normal CEBPA-mutated AML. J Hematol Oncol, 7, 55. https://doi.org/10.1186/s13045-014-0055-7
- Preudhomme C, Sagot C, Boissel N, et al (2002). Favorable prognostic significance of CEBPA mutations in patients with de novo acute myeloid leukemia: a study from the acute leukemia French association (ALFA). Blood, 100, 2717-23. https://doi.org/10.1182/blood-2002-03-0990
- Resende C, Regalo G, Duraes C, Carneiro F, Machado JC (2007). Genetic changes of CEBPA in cancer: mutations or polymorphisms? J Clin Oncol, 25, 2493-4. https://doi.org/10.1200/JCO.2007.10.7227
- Ruan M, Zhang L, Han C, et al (2014). NPM1 and CEBPA mutations in pediatric cytogenetically normal acute myeloid leukemia. Zhonghua Er Ke Za Zhi, 52, 303-7.
- Schnittger S, Schoch C, Dugas M, et al (2002). Analysis of FLT3 length mutations in 1003 patients with acute myeloid leukemia: correlation to cytogenetics, FAB subtype, and prognosis in the AMLCG study and usefulness as a marker for the detection of minimal residual disease. Blood, 100, 59-66. https://doi.org/10.1182/blood.V100.1.59
- Schnittger S, Schoch C, Kern W, et al (2005). Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype. Blood, 106, 3733-9. https://doi.org/10.1182/blood-2005-06-2248
- Shaffer LG, Slovak ML, Campbell LJ (eds). ISCN 2009: An International System for Human Cytogenetic Nomenclature (2009). Basel, Karger, 2009.
- Su L, Gao SJ, Li W, et al (2013). NPM1, FLT3-ITD, CEBPA, and c-kit mutations in 312 Chinese patients with de novo acute myeloid leukemia. Hematology, 19, 324-8.
- Su L, Gao SJ, TanY H, et al (2013). Associations between age, cytogenetics, FLT3-ITD, and marrow leukemia cells identified by flow cytometry. Asian Pac J Cancer Prev, 14, 5341-3. https://doi.org/10.7314/APJCP.2013.14.9.5341
- Su L, Li X, Gao SJ, et al (2014). Cytogenetic and genetic mutation features of de novo acute myeloid leukemia in elderly Chinese patients. Asian Pac J Cancer Prev, 15, 895-8. https://doi.org/10.7314/APJCP.2014.15.2.895
- Szankasi P, Ho AK, Bahler DW, Efimova O, Kelley TW (2011). Combined testing for CCAAT/enhancer-binding protein alpha (CEBPA) mutations and promoter methylation in acute myeloid leukemia demonstrates shared phenotypic features. Leuk Res, 35, 200-7. https://doi.org/10.1016/j.leukres.2010.09.018
- Tenen DG (2003). Disruption of differentiation in human cancer: AML shows the way. Nat Rev Cancer, 3, 89-101. https://doi.org/10.1038/nrc989
- Thiede C, Steudel C, Mohr B, et al (2002). Analysis of FLT3-activating mutations in 979 patients with acute myelogenous leukemia: association with FAB subtypes and identification of subgroups with poor prognosis. Blood, 99, 4326-35. https://doi.org/10.1182/blood.V99.12.4326
- Wouters BJ, Louwers I, Valk PJ, Lowenberg B, Delwel R (2007). A recurrent in-frame insertion in a CEBPA transactivation domain is a polymorphism rather than a mutation that does not affect gene expression profiling-based clustering of AML. Blood, 109, 389-90. https://doi.org/10.1182/blood-2006-08-042325
- Yohe S (2015). Molecular genetic markers in acute myeloid leukemia. J Clin Med, 4, 460-78. https://doi.org/10.3390/jcm4030460
피인용 문헌
- Expression and regulation of C/EBPα in normal myelopoiesis and in malignant transformation vol.129, pp.15, 2017, https://doi.org/10.1182/blood-2016-09-687822