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Acute myeloid leukemia with biallelic CEBPA gene mutations and normal karyotype represents a distinct genetic entity associated with a favorable clinical outcome
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GATA2 mutations are frequent in intermediate-risk karyotype AML with biallelic CEBPA mutations and are associated with favorable prognosis
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Fasan, A., Eder, C., Haferlach, C., Grossmann, V., Kohlmann, A., Dicker, F., Kern, W., Haferlach, T. & Schnittger, S. (2013) GATA2 mutations are frequent in intermediate-risk karyotype AML with biallelic CEBPA mutations and are associated with favorable prognosis. Leukemia, 27, 482-485.
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The impact of FLT3 internal tandem duplication mutant level, number, size, and interaction with NPM1 mutations in a large cohort of young adult patients with acute myeloid leukemia
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Gale, R.E., Green, C., Allen, C., Mead, A.J., Burnett, A.K., Hills, R.K. & Linch, D.C. (2008) The impact of FLT3 internal tandem duplication mutant level, number, size, and interaction with NPM1 mutations in a large cohort of young adult patients with acute myeloid leukemia. Blood, 111, 2776-2784.
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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
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Green, C.L., Koo, K.K., Hills, R.K., Burnett, A.K., Linch, D.C. & Gale, R.E. (2010) 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. Journal of Clinical Oncology, 28, 2739-2747.
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GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia
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Greif, P.A., Dufour, A., Konstandin, N.P., Ksienzyk, B., Zellmeier, E., Tizazu, B., Sturm, J., Benthaus, T., Herold, T., Yaghmaie, M., Dorge, P., Hopfner, K.P., Hauser, A., Graf, A., Krebs, S., Blum, H., Kakadia, P.M., Schneider, S., Hoster, E., Schneider, F., Stanulla, M., Braess, J., Sauerland, M.C., Berdel, W.E., Buchner, T., Woermann, B.J., Hiddemann, W., Spiekermann, K. & Bohlander, S.K. (2012) GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia. Blood, 120, 395-403.
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Spiekermann, K.28
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Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
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Hahn, C.N., Chong, C.E., Carmichael, C.L., Wilkins, E.J., Brautigan, P.J., Li, X.C., Babic, M., Lin, M., Carmagnac, A., Lee, Y.K., Kok, C.H., Gagliardi, L., Friend, K.L., Ekert, P.G., Butcher, C.M., Brown, A.L., Lewis, I.D., To, L.B., Timms, A.E., Storek, J., Moore, S., Altree, M., Escher, R., Bardy, P.G., Suthers, G.K., D'Andrea, R.J., Horwitz, M.S. & Scott, H.S. (2011) Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nature Genetics, 43, 1012-1017.
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Hahn, C.N.1
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High GATA2 expression is a poor prognostic marker in pediatric acute myeloid leukemia
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Luesink, M., Hollink, H., van der Velden, V.H., Knops, R.H., Boezeman, J.B., de Haas, V., Trka, J., Baruchel, A., Reinhardt, D., van der Reijden, B.A., van den Heuvel-Eibrink, M.M., Zwaan, C.M. & Jansen, J.H. (2012) High GATA2 expression is a poor prognostic marker in pediatric acute myeloid leukemia. Blood, 120, 2064-2075.
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Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation
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Interaction between GATA and the C/EBP family of transcription factors is critical in GATA-mediated suppression of adipocyte differentiation
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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
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Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia
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Yan, X.J., Xu, J., Gu, Z.H., Pan, C.M., Lu, G., Shen, Y., Shi, J.Y., Zhu, Y.M., Tang, L., Zhang, X.W., Liang, W.X., Mi, J.Q., Song, H.D., Li, K.Q., Chen, Z. & Chen, S.J. (2011) Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. Nature Genetics, 43, 309-315.
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