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Volumn 120, Issue 2, 2012, Pages 395-403

GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia

(29)  Greif, Philipp A a,b   Dufour, Annika a   Konstandin, Nikola P a,b   Ksienzyk, Bianka a   Zellmeier, Evelyn a,b   Tizazu, Belay a,b   Sturm, Jutta a,b   Benthaus, Tobias a   Herold, Tobias a   Yaghmaie, Marjan a,b,h   Dörge, Petra c   Hopfner, Karl Peter a   Hauser, Andreas a   Graf, Alexander a   Krebs, Stefan a   Blum, Helmut a   Kakadia, Purvi M a,g   Schneider, Stephanie a   Hoster, Eva a   Schneider, Friederike a   more..


Author keywords

[No Author keywords available]

Indexed keywords

CCAAT ENHANCER BINDING PROTEIN ALPHA; DNA METHYLTRANSFERASE 3A; TRANSCRIPTION FACTOR GATA 2; UNCLASSIFIED DRUG; ZINC FINGER 1; ZINC FINGER PROTEIN;

EID: 84864054209     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-01-403220     Document Type: Article
Times cited : (136)

References (52)
  • 2
    • 77449159028 scopus 로고    scopus 로고
    • Diagnosis and management of acute myeloid leukemia in adults: Recommendations from an international expert panel, on behalf of the European LeukemiaNet
    • Döhner H, Estey EH, Amadori S, et al. Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood. 2010;115(3):453-474.
    • (2010) Blood , vol.115 , Issue.3 , pp. 453-474
    • Döhner, H.1    Estey, E.H.2    Amadori, S.3
  • 3
    • 77449146413 scopus 로고    scopus 로고
    • Acute myeloid leukemia with biallelic CEBPA gene mutations and normal karyotype represents a distinct genetic entity associated with a favorable clinical outcome
    • Dufour A, Schneider F, Metzeler KH, 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(4):570-577.
    • (2010) J Clin Oncol , vol.28 , Issue.4 , pp. 570-577
    • Dufour, A.1    Schneider, F.2    Metzeler, K.H.3
  • 4
    • 77954921625 scopus 로고    scopus 로고
    • 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
    • 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.
    • (2010) J Clin Oncol , vol.28 , Issue.16 , pp. 2739-2747
    • Green, C.L.1    Koo, K.K.2    Hills, R.K.3    Burnett, A.K.4    Linch, D.C.5    Gale, R.E.6
  • 5
    • 64949122396 scopus 로고    scopus 로고
    • Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis
    • 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.
    • (2009) Br J Cancer , vol.100 , Issue.8 , pp. 1343-1346
    • Pabst, T.1    Eyholzer, M.2    Fos, J.3    Mueller, B.U.4
  • 6
    • 79952122978 scopus 로고    scopus 로고
    • Prognostic impact, concurrent genetic mutations and gene expression features of AML with CEBPA mutations in a cohort of 1182 cytogenetically normal AML: Further evidence for CEBPA double mutant AML as a distinctive disease entity
    • 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: further evidence for CEBPA double mutant AML as a distinctive disease entity. Blood. 2011;117(8):2469-2475.
    • (2011) Blood , vol.117 , Issue.8 , pp. 2469-2475
    • Taskesen, E.1    Bullinger, L.2    Corbacioglu, A.3
  • 7
    • 63849241865 scopus 로고    scopus 로고
    • 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
    • Wouters BJ, Lowenberg B, Erpelinck-Verschueren CA, et al. 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.
    • (2009) Blood , vol.113 , Issue.13 , pp. 3088-3091
    • Wouters, B.J.1    Lowenberg, B.2    Erpelinck-Verschueren, C.A.3
  • 8
    • 78650975508 scopus 로고    scopus 로고
    • Two types of C/EBP{alpha} mutations play distinct but collaborative roles in leukemogenesis: Lessons from clinical data and BMT models
    • Kato N, Kitaura J, Doki N, et al. Two types of C/EBP{alpha} mutations play distinct but collaborative roles in leukemogenesis: lessons from clinical data and BMT models. Blood. 2011; 117(1):221-233.
    • (2011) Blood , vol.117 , Issue.1 , pp. 221-233
    • Kato, N.1    Kitaura, J.2    Doki, N.3
  • 9
    • 70350497395 scopus 로고    scopus 로고
    • Hematopoietic stem cell expansion precedes the generation of committed myeloid leukemia-initiating cells in C/EBPalpha mutant AML
    • Bereshchenko O, Mancini E, Moore S, et al. Hematopoietic stem cell expansion precedes the generation of committed myeloid leukemia-initiating cells in C/EBPalpha mutant AML. Cancer Cell. 2009;16(5):390-400.
    • (2009) Cancer Cell , vol.16 , Issue.5 , pp. 390-400
    • Bereshchenko, O.1    Mancini, E.2    Moore, S.3
  • 11
    • 20044388101 scopus 로고    scopus 로고
    • 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
    • Lin LI, Chen CY, Lin DT, 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(4):1372-1379.
    • (2005) Clin Cancer Res , vol.11 , Issue.4 , pp. 1372-1379
    • Lin, L.I.1    Chen, C.Y.2    Lin, D.T.3
  • 12
    • 58149240152 scopus 로고    scopus 로고
    • Prediction of molecular subtypes in acute myeloid leukemia based on gene expression profiling
    • Verhaak RG, Wouters BJ, Erpelinck CA, et al. Prediction of molecular subtypes in acute myeloid leukemia based on gene expression profiling. Haematologica. 2009;94(1):131-134.
    • (2009) Haematologica , vol.94 , Issue.1 , pp. 131-134
    • Verhaak, R.G.1    Wouters, B.J.2    Erpelinck, C.A.3
  • 13
    • 79960735923 scopus 로고    scopus 로고
    • Incidence and prognostic influence of DNMT3A mutations in acute myeloid leukemia
    • Thol F, Damm F, Ludeking A, et al. Incidence and prognostic influence of DNMT3A mutations in acute myeloid leukemia. J Clin Oncol. 2011; 29(21):2889-2896.
    • (2011) J Clin Oncol , vol.29 , Issue.21 , pp. 2889-2896
    • Thol, F.1    Damm, F.2    Ludeking, A.3
  • 14
    • 83355163398 scopus 로고    scopus 로고
    • DNMT3A mutations in acute myeloid leukemia: Impact on low-risk patients with CEBPA mutations
    • Masuda S. DNMT3A mutations in acute myeloid leukemia: impact on low-risk patients with CEBPA mutations. J Clin Oncol. 2011;29(34):4592-4593.
    • (2011) J Clin Oncol , vol.29 , Issue.34 , pp. 4592-4593
    • Masuda, S.1
  • 15
    • 79952092487 scopus 로고    scopus 로고
    • Molecular genetics of adult acute myeloid leukemia: Prognostic and therapeutic implications
    • Marcucci G, Haferlach T, Dohner H. Molecular genetics of adult acute myeloid leukemia: prognostic and therapeutic implications. J Clin Oncol. 2011;29(5):475-486.
    • (2011) J Clin Oncol , vol.29 , Issue.5 , pp. 475-486
    • Marcucci, G.1    Haferlach, T.2    Dohner, H.3
  • 17
    • 0030926190 scopus 로고    scopus 로고
    • Transcription factor GATA-2 is required for proliferation/survival of early hematopoietic cells and mast cell formation, but not for erythroid and myeloid terminal differentiation
    • Tsai FY, Orkin SH. Transcription factor GATA-2 is required for proliferation/survival of early hematopoietic cells and mast cell formation, but not for erythroid and myeloid terminal differentiation. Blood. 1997;89(10):3636-3643. (Pubitemid 27227086)
    • (1997) Blood , vol.89 , Issue.10 , pp. 3636-3643
    • Tsai, F.-Y.1    Orkin, S.H.2
  • 19
    • 58149399353 scopus 로고    scopus 로고
    • GATA-2 regulates granulocyte-macrophage progenitor cell function
    • Rodrigues NP, Boyd AS, Fugazza C, et al. GATA-2 regulates granulocyte-macrophage progenitor cell function. Blood. 2008;112(13):4862- 4873.
    • (2008) Blood , vol.112 , Issue.13 , pp. 4862-4873
    • Rodrigues, N.P.1    Boyd, A.S.2    Fugazza, C.3
  • 20
    • 70249123849 scopus 로고    scopus 로고
    • GATA-2 reinforces megakaryocyte development in the absence of GATA-1
    • Huang Z, Dore LC, Li Z, et al. GATA-2 reinforces megakaryocyte development in the absence of GATA-1. Mol Cell Biol. 2009;29(18):5168-5180.
    • (2009) Mol Cell Biol , vol.29 , Issue.18 , pp. 5168-5180
    • Huang, Z.1    Dore, L.C.2    Li, Z.3
  • 21
    • 41149169150 scopus 로고    scopus 로고
    • Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia
    • Zhang SJ, Ma LY, Huang QH, et al. Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia. Proc Natl Acad Sci U S A. 2008;105(6):2076-2081.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , Issue.6 , pp. 2076-2081
    • Zhang, S.J.1    Ma, L.Y.2    Huang, Q.H.3
  • 22
    • 80053383273 scopus 로고    scopus 로고
    • Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
    • Hahn CN, Chong CE, Carmichael CL, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet. 2011;43(10):1012-1017.
    • (2011) Nat Genet , vol.43 , Issue.10 , pp. 1012-1017
    • Hahn, C.N.1    Chong, C.E.2    Carmichael, C.L.3
  • 23
    • 79953176952 scopus 로고    scopus 로고
    • Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia
    • Yan XJ, Xu J, Gu ZH, et al. Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. Nat Genet. 2011;43(4):309-315.
    • (2011) Nat Genet , vol.43 , Issue.4 , pp. 309-315
    • Yan, X.J.1    Xu, J.2    Gu, Z.H.3
  • 25
    • 65449189228 scopus 로고    scopus 로고
    • Dosedense induction with sequential high-dose cytarabine and mitoxantone (S-HAM) and pegfilgrastim results in a high efficacy and a short duration of critical neutropenia in de novo acute myeloid leukemia: A pilot study of the AMLCG
    • Braess J, Spiekermann K, Staib P, et al. Dosedense induction with sequential high-dose cytarabine and mitoxantone (S-HAM) and pegfilgrastim results in a high efficacy and a short duration of critical neutropenia in de novo acute myeloid leukemia: a pilot study of the AMLCG. Blood. 2009; 113(17):3903-3910.
    • (2009) Blood , vol.113 , Issue.17 , pp. 3903-3910
    • Braess, J.1    Spiekermann, K.2    Staib, P.3
  • 26
    • 44449142226 scopus 로고    scopus 로고
    • A link between RNA metabolism and silencing affecting Arabidopsis development
    • Gregory BD, O'Malley RC, Lister R, et al. A link between RNA metabolism and silencing affecting Arabidopsis development. Dev Cell. 2008;14(6): 854-866.
    • (2008) Dev Cell , vol.14 , Issue.6 , pp. 854-866
    • Gregory, B.D.1    O'Malley, R.C.2    Lister, R.3
  • 27
    • 42749087226 scopus 로고    scopus 로고
    • Highly integrated single-base resolution maps of the epigenome in Arabidopsis
    • Lister R, O'Malley RC, Tonti-Filippini J, et al. Highly integrated single-base resolution maps of the epigenome in Arabidopsis. Cell. 2008;133(3): 523-536.
    • (2008) Cell , vol.133 , Issue.3 , pp. 523-536
    • Lister, R.1    O'Malley, R.C.2    Tonti-Filippini, J.3
  • 28
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754-1760.
    • (2009) Bioinformatics , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 29
    • 68549104404 scopus 로고    scopus 로고
    • The Sequence Alignment/Map format and SAMtools
    • Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009;25(16):2078-2079.
    • (2009) Bioinformatics , vol.25 , Issue.16 , pp. 2078-2079
    • Li, H.1    Handsaker, B.2    Wysoker, A.3
  • 30
    • 77951770756 scopus 로고    scopus 로고
    • BEDTools: A flexible suite of utilities for comparing genomic features
    • Quinlan AR, Hall IM. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics. 2010;26(6):841-842.
    • (2010) Bioinformatics , vol.26 , Issue.6 , pp. 841-842
    • Quinlan, A.R.1    Hall, I.M.2
  • 31
    • 69949122158 scopus 로고    scopus 로고
    • VarScan: Variant detection in massively parallel sequencing of individual and pooled samples
    • Koboldt DC, Chen K, Wylie T, et al. VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics. 2009;25(17):2283-2285.
    • (2009) Bioinformatics , vol.25 , Issue.17 , pp. 2283-2285
    • Koboldt, D.C.1    Chen, K.2    Wylie, T.3
  • 32
    • 79955854144 scopus 로고    scopus 로고
    • Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing
    • Greif PA, Eck SH, Konstandin NP, et al. Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing. Leukemia. 2011;25(5):821-827.
    • (2011) Leukemia , vol.25 , Issue.5 , pp. 821-827
    • Greif, P.A.1    Eck, S.H.2    Konstandin, N.P.3
  • 33
    • 80052475500 scopus 로고    scopus 로고
    • Somatic mutations in acute promyelocytic leukemia (APL) identified by exome sequencing
    • Greif PA, Yaghmaie M, Konstandin NP, et al. Somatic mutations in acute promyelocytic leukemia (APL) identified by exome sequencing. Leukemia. 2011;25:1519-1522.
    • (2011) Leukemia , vol.25 , pp. 1519-1522
    • Greif, P.A.1    Yaghmaie, M.2    Konstandin, N.P.3
  • 34
    • 77955405475 scopus 로고    scopus 로고
    • Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
    • McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F. Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics. 2010;26(16):2069-2070.
    • (2010) Bioinformatics , vol.26 , Issue.16 , pp. 2069-2070
    • McLaren, W.1    Pritchard, B.2    Rios, D.3    Chen, Y.4    Flicek, P.5    Cunningham, F.6
  • 36
    • 78649906060 scopus 로고    scopus 로고
    • DNMT3A mutations in acute myeloid leukemia
    • Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363(25):2424-2433.
    • (2010) N Engl J Med , vol.363 , Issue.25 , pp. 2424-2433
    • Ley, T.J.1    Ding, L.2    Walter, M.J.3
  • 37
    • 84855853131 scopus 로고    scopus 로고
    • Prognostic impact of DNMT3A mutations in patients with intermediate cytogenetic risk profile acute myeloid leukemia
    • Marková J, Michková P, Burčková K, et al. Prognostic impact of DNMT3A mutations in patients with intermediate cytogenetic risk profile acute myeloid leukemia. Eur J Haematol. 2012;88(2): 128-135.
    • (2012) Eur J Haematol , vol.88 , Issue.2 , pp. 128-135
    • Marková, J.1    Michková, P.2    Burčková, K.3
  • 38
    • 48749107415 scopus 로고    scopus 로고
    • Crystal structures of multiple GATA zinc fingers bound to DNA reveal new insights into DNA recognition and self-association by GATA
    • Bates DL, Chen Y, Kim G, Guo L, Chen L. Crystal structures of multiple GATA zinc fingers bound to DNA reveal new insights into DNA recognition and self-association by GATA. J Mol Biol. 2008; 381(5):1292-1306.
    • (2008) J Mol Biol , vol.381 , Issue.5 , pp. 1292-1306
    • Bates, D.L.1    Chen, Y.2    Kim, G.3    Guo, L.4    Chen, L.5
  • 41
    • 58749109707 scopus 로고    scopus 로고
    • Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia
    • Mullighan CG, Su X, Zhang J, et al. Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia. N Engl J Med. 2009;360(5):470-480.
    • (2009) N Engl J Med , vol.360 , Issue.5 , pp. 470-480
    • Mullighan, C.G.1    Su, X.2    Zhang, J.3
  • 43
    • 77956476356 scopus 로고    scopus 로고
    • Alteration of cohesin genes in myeloid diseases
    • Rocquain J, Gelsi-Boyer V, Adelaide J, et al. Alteration of cohesin genes in myeloid diseases. Am J Hematol. 2010;85(9):717-719.
    • (2010) Am J Hematol , vol.85 , Issue.9 , pp. 717-719
    • Rocquain, J.1    Gelsi-Boyer, V.2    Adelaide, J.3
  • 45
    • 11844262114 scopus 로고    scopus 로고
    • Interaction between GATA and the C/EBP family of transcription factors is critical in GATA-mediated suppression of adipocyte differentiation
    • DOI 10.1128/MCB.25.2.706-715.2005
    • Tong Q, Tsai J, Tan G, Dalgin G, Hotamisligil GS. Interaction between GATA and the C/EBP family of transcription factors is critical in GATA-mediated suppression of adipocyte differentiation. Mol Cell Biol. 2005;25(2):706-715. (Pubitemid 40096591)
    • (2005) Molecular and Cellular Biology , vol.25 , Issue.2 , pp. 706-715
    • Tong, Q.1    Tsai, J.2    Tan, G.3    Dalgin, G.4    Hotamisligil, G.S.5
  • 46
    • 67349119504 scopus 로고    scopus 로고
    • GATA-2 L359 V mutation is exclusively associated with CML progression but not other hematological malignancies and GATA-2 P250A is a novel single nucleotide polymorphism
    • Zhang SJ, Shi JY, Li JY. GATA-2 L359 V mutation is exclusively associated with CML progression but not other hematological malignancies and GATA-2 P250A is a novel single nucleotide polymorphism. Leuk Res. 2009;33(8):1141-1143.
    • (2009) Leuk Res , vol.33 , Issue.8 , pp. 1141-1143
    • Zhang, S.J.1    Shi, J.Y.2    Li, J.Y.3
  • 47
    • 80052089944 scopus 로고    scopus 로고
    • Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency
    • Dickinson RE, Griffin H, Bigley V, et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood. 2011; 118(10):2656-2658.
    • (2011) Blood , vol.118 , Issue.10 , pp. 2656-2658
    • Dickinson, R.E.1    Griffin, H.2    Bigley, V.3
  • 48
    • 80053385569 scopus 로고    scopus 로고
    • Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
    • Ostergaard P, Simpson MA, Connell FC, et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet. 2011;43(10):929-931.
    • (2011) Nat Genet , vol.43 , Issue.10 , pp. 929-931
    • Ostergaard, P.1    Simpson, M.A.2    Connell, F.C.3
  • 49
    • 79961074298 scopus 로고    scopus 로고
    • Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome
    • Hsu AP, Sampaio EP, Khan J, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood. 2011;118(10):2653-2655.
    • (2011) Blood , vol.118 , Issue.10 , pp. 2653-2655
    • Hsu, A.P.1    Sampaio, E.P.2    Khan, J.3
  • 50
    • 78549289930 scopus 로고    scopus 로고
    • Lineage-instructive function of C/EBPalpha in multipotent hematopoietic cells and early thymic progenitors
    • Wölfler A, Danen-van Oorschot AA, Haanstra JR, et al. Lineage-instructive function of C/EBPalpha in multipotent hematopoietic cells and early thymic progenitors. Blood. 2010;116(20):4116-4125.
    • (2010) Blood , vol.116 , Issue.20 , pp. 4116-4125
    • Wölfler, A.1    Danen-van Oorschot, A.A.2    Haanstra, J.R.3
  • 51
    • 0034623079 scopus 로고    scopus 로고
    • GATA zinc finger interactions modulate DNA binding and transactivation
    • Trainor CD, Ghirlando R, Simpson MA. GATA zinc finger interactions modulate DNA binding and transactivation. J Biol Chem. 2000;275(36): 28157-28166.
    • (2000) J Biol Chem , vol.275 , Issue.36 , pp. 28157-28166
    • Trainor, C.D.1    Ghirlando, R.2    Simpson, M.A.3


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