CEBPA gene mutations in Egyptian acute myeloid leukemia patients: impact on prognosis

References

• Byrd JC, Mrozek K, Dodge RK. 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. Blood. 2002;100:4325–36.
   PubMed Web of Science ®Google Scholar
• Creutzig U, Kaspers GJ. Revised recommendations of the International Working Group for diagnosis, standardization of response criteria, treatment outcomes, and reporting standards for therapeutic trials in acute myeloid leukemia. J Clin Oncol. 2004;22:3432–3.
   PubMed Web of Science ®Google Scholar
• Renneville A, Boissel N, Gachard N, Naguib D, Bastard C, 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: clinical trials and observations. Blood. 2009;113:5090–3.
   PubMed Web of Science ®Google Scholar
• Filip R, Dana D, Tomas J, Ivana J, Zlatuse K, Jiri M. CEBPA gene mutational status: a complete screening using high-resolution melt curve analysis. Mol Diagn Ther. 2009;13:195–200.
   PubMed Web of Science ®Google Scholar
• Johnson PF, Landschulz WH, Graves BJ, McKnight SL. Identification of a rat liver nuclear protein that binds to the enhancer core element of three animal viruses. Genes Dev. 1987;1:133–46.
   PubMed Web of Science ®Google Scholar
• Graves BJ, John PH, McKnight SL. Homologous recognition of a promoter domain common to the MSV LTR and the HSV tk gene. Cell. 1986;44:565–76.
   PubMed Web of Science ®Google Scholar
• Tsukadaa J, Yoshidab Y, Kominatoc Y, Auron PE. The CCAAT/enhancer (C/EBP) family of basic-leucine zipper (bZIP) transcription factors is a multifaceted highly-regulated system for gene regulation. Cytokine. 2011;54:6–19.
   PubMed Web of Science ®Google Scholar
• Hankey W, Silver M, Sun H, Zibello T, Berliner N, Khanna-Gupta A. Differential effects of sumoylation on the activities of CCAAT enhancer binding protein alpha (C/EBPα) p42 versus p30 may contribute in part, to aberrant C/EBPα activity in acute leukemias. Hematol Rep. 2011;3:13–7.
   Google Scholar
• Scott LM, Civin CI, Rorth P, Friedman AD. A novel temporal expression pattern of three C/EBP family members in differentiating myelomonocytic cells. Blood. 1992;80:1725–35.
   PubMed Web of Science ®Google Scholar
• Sonda N, Chioda M, Zilio S, Simonato F, Bronte V. Transcription factors in myeloid-derived suppressor cell recruitment and function. Curr Opin Immunol. 2011;23:279–85.
   PubMed Web of Science ®Google Scholar
• Smith LT, Hohaus S, Gonzalez DA, Dziennis SE, Tenen DG. PU.1 (Spi-1) and C/EBP alpha regulate the granulocyte colony-stimulating factor receptor promoter in myeloid cells. Blood. 1996;88(4):1234–47.
   PubMed Web of Science ®Google Scholar
• Zhang DE, Zhang P, Wang ND, Hetherington CJ, Darlington GJ, Tenen DG. Absence of granulocyte colony-stimulating factor signaling and neutrophil development in CCAAT enhancer binding protein α-deficient mice. Proc Natl Acad Sci USA. 1997;94:569–74.
   PubMed Web of Science ®Google Scholar
• Pabst T, Mueller BU, Zhang P, Radomska HS, Narravula S, Schnittger S, et al. Dominant negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-α (C/EBPα), in acute myeloid leukemia. Nat Genet. 2001;27:263–70.
   PubMed Web of Science ®Google Scholar
• Tenen DG. Abnormalities of the CEBPα transcription factor: a major target in acute myeloid leukemia. Leukemia. 2001;15:688–9.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Taskesen E, Bullinger L, Corbacioglu A, Sanders MA, Erpelinck CAJ, 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Bain BJ, Barnett D, Linch D, Matutes E, Reilly JT. Revised guideline on immunophenotyping in acute leukaemias and chronic lymphoproliferative disorders. Clin Lab Haematol. 2002;24:1–13.
   PubMedGoogle Scholar
• Schoch C, Kern W, Schnittger S, Hiddemann W, Haferlach T. Karyotype is an independent prognostic parameter in therapy-related acute myeloid leukemia (t-AML): an analysis of 93 patients with t-AML in comparison to 1091 patients with de novo AML. Leukemia. 2004;18:120–5.
   PubMed Web of Science ®Google Scholar
• Grimwade D, Hills RK, Moorman AV, Walker H, Chatters S, Goldstone AH, et al. 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. 2010;116:354–65.
   PubMed Web of Science ®Google Scholar
• Greer J, Baer M, Kinnery M. Acute myelogenous leukemia. In: , Lee G, Foester J, Leukens J, Pareskerva F, Greer J, Rogers G, (eds.) Wintrobe's clinical hematology, 12th edn. Philadelphia: Lippincott Williams and Wilkins; 2009:2045–62.
   Google Scholar
• Kanamaru A, Takemoto Y, Tanimoto M, Murakami H, Asou N, Kobayashi T, et al. All trans retinoic acid for the treatment of newly diagnosed acute promyelocytic leukemia. Japan Adult Leukemia Study Group. Blood. 1995;85:1202–6.
   PubMed Web of Science ®Google Scholar
• Kiyoi H, Naoe T, Nakano Y, Yokota S, Minami S, Miyawaki S, et al. Prognostic implication of FLT3 and N-RAS gene mutations in acute myeloid leukemia. Blood. 1999;93:3074–80.
   PubMed Web of Science ®Google Scholar
• Kukita Y, Tahira T, Sommer S, Hayashi K. SSCP analysis of long DNA fragments in low pH gel. Hum Mutat. 1997;10:400–7.
   PubMed Web of Science ®Google Scholar
• Döhner H, Estey EH, Amadori S, Appelbaum FR, Büchner T, Burnett AK, et al. Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel. Blood. 2010;115:453–74.
   PubMed Web of Science ®Google Scholar
• Trivedi AK, Pal P, Behre G, Singh SM. Multiple ways of CEBPA inhibition in myeloid leukaemia. Eur J Cancer. 2008;44:1516–23.
   PubMed Web of Science ®Google Scholar
• Nollau P, Wagener C. Methods for detection of point mutations: performance and quality assessment. Clin Chem. 1997;43:1114–28.
   PubMed Web of Science ®Google Scholar
• Bienz M, Ludwig M, Mueller BU, Leibundgut EO, Ratschiller D, Solenthaler M, et al. Risk assessment in patients with acute myeloid leukemia and a normal karyotype. Clin Cancer Res. 2005;11:1416–24.
   PubMed Web of Science ®Google Scholar
• Preudhomme C, Sagot C, Boissel N, Cayuela J, Tigaud I, Botton S, et al. Favorable prognostic significance of CEBPA mutations in patients with de novo acute myeloid leukemia: a study from the Acute Leukemia French Association (ALFA). Blood. 2002;100:2717–23.
   PubMed Web of Science ®Google Scholar
• Schwieger M, Löhler J, Fischer M, Herwig U, Tenen DG, Stocking C. A dominant-negative mutant of C/EBPalpha, associated with acute myeloid leukemias, inhibits differentiation of myeloid and erythroid progenitors of man but not mouse. Blood. 2004;103:2744–52.
   PubMed Web of Science ®Google Scholar
• Wouters BJ, Löwenberg 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.
   PubMed Web of Science ®Google Scholar
• Kim S, Kim DH, Jang JH, Jung CW, Jang MA, Ki CS, et al. Novel mutations in CEBPA in Korean patients with acute myeloid leukemia with a normal karyotype. Ann Lab Med. 2012;32:153–7.
   PubMed Web of Science ®Google Scholar
• El-Sharnouby JA, Ahmed LM, Taha AM, Kamal O. Prognostic significance of CEBPA mutations and BAALC expression in acute myeloid leukemia patients with normal karyotype. Egypt J Immunol. 2008;15:131–43.
   PubMedGoogle Scholar
• 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 Orthod. 2010;28:2739–47.
   Google Scholar
• Marcucci G, Maharry K, Radmacher MD, Mrózek K, Vukosavljevic T, Paschka P, et al. Prognostic significance of, and gene and MicroRNA expression signatures associated with, CEBPA mutations in ctogenetically normal acute myeloid leukemia with high-risk molecular features: a Cancer and Leukemia Group B Study. J Clin Oncol. 2008;1(26):5078–87.
   Google Scholar
• Lin L, Chen C, Lin D, Tsay W, Tang J, Yeh Y, 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.
   PubMed Web of Science ®Google Scholar
• Dohner MKH, Bloomfield CD. Influence of new molecular prognostic markers in patients with karyotypically normal acute myeloid leukemia: recent advances. Curr Opin Hematol. 2007;14:106–14.
   PubMed Web of Science ®Google Scholar
• Schnittgera S, Bacherb U, Edera C, Lohsec P, Haferlacha C, Kerna W, et al. A copy number repeat polymorphism in the trans activation domain of the CEPBA gene is possibly associated with a protective effect against acquired CEBPA mutations: an analysis in 1135 patients with AML and 187 healthy controls. Exp Hematol. 2011;39:87–94.
   PubMed Web of Science ®Google Scholar
• Leroy H, Roumier C, Huyghe P, Biggio V, Fenaux P, Preudhomme C. CEBPA point mutations in hematological malignancies. Leukemia. 2005;19:329–34.
   PubMed Web of Science ®Google Scholar
• D'Alò F, Di Ruscio A, Guidi F, Fabiani E, Greco M, Rumi C, et al. PU.1 and CEBPA expression in acute myeloid leukemia. Leuk Res. 2008;32:1448–53.
   PubMed Web of Science ®Google Scholar
• Gombart AF, Hofmann WK, Kawano S, Kawano S, Takeuchi S, Krug U, et al. Mutations in the gene encoding the transcription factor CCAAT/enhancer binding protein a in myelodysplastic syndromes and acute myeloid leukemias. Blood. 2002;99:1332–40.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Barjesteh van Waalwijk van Doorn-Kho srovani S, Erpelinck C, Meijer J, Erpelinck C, Meijer J, van Oosterhoud S, 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.
   PubMedGoogle Scholar
• Pabst T, Mueller BU. Transcriptional dysregulation during myeloid transformation in AML. Oncogene. 2007;26:6829–37.
   PubMed Web of Science ®Google Scholar
• Pabst T, Eyholzer M, Haefliger S, Schardt J, Mueller BU. Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. J Clin Oncol. 2008;26:5088–93.
   PubMed Web of Science ®Google Scholar
• Perrotti D, Marcucci G, Caligiuri MA. Loss of C/EBPα and favorable prognosis of acute myeloid leukemias: a biological paradox. J Clin Oncol. 2004;22:582–4.
   PubMed Web of Science ®Google Scholar