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Volumn 28, Issue 4, 2014, Pages 823-829

Exome sequencing reveals novel and recurrent mutations with clinical impact in blastic plasmacytoid dendritic cell neoplasm

(19)  Menezes, J a   Acquadro, F a,b   Wiseman, M b   Gomez Lopez G a   Salgado, R N a   Talavera Casanas J G c   Buno I d   Cervera, J V e   Montes Moreno, S f   Hernandez Rivas J M g   Ayala, R h   Calasanz, M J i   Larrayoz, M J i   Brichs, L F j   Gonzalez Vicent, M k   Pisano, D G a   Piris, M A f   Alvarez S a   Cigudosa, J C a  


Author keywords

ASXL1; blastic NK cell lymphoma; BPDCN; IKAROS family; TET2

Indexed keywords

DNA METHYLTRANSFERASE 3A; UNTRANSLATED RNA;

EID: 84898037439     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2013.283     Document Type: Article
Times cited : (141)

References (45)
  • 1
    • 70349256226 scopus 로고    scopus 로고
    • The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: Rationale and important changes
    • Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 2009; 114: 937-951.
    • (2009) Blood , vol.114 , pp. 937-951
    • Vardiman, J.W.1    Thiele, J.2    Arber, D.A.3    Brunning, R.D.4    Borowitz, M.J.5    Porwit, A.6
  • 2
    • 34249732606 scopus 로고    scopus 로고
    • CD4\+/CD56\+ hematodermic tumor: The features of an evolving entity and its relationship to dendritic cells
    • Herling M, Jones D. CD4\+/CD56\+ hematodermic tumor: the features of an evolving entity and its relationship to dendritic cells. Am J Clin Pathol 2007; 127: 687-700.
    • (2007) Am J Clin Pathol , vol.127 , pp. 687-700
    • Herling, M.1    Jones, D.2
  • 4
    • 0032773794 scopus 로고    scopus 로고
    • Plasmacytoid monocytes migrate to inflamed lymph nodes and produce large amounts of type I interferon
    • DOI 10.1038/11360
    • Cella M, Jarrossay D, Facchetti F, Alebardi O, Nakajima H, Lanzavecchia A et al. Plasmacytoid monocytes migrate to inflamed lymph nodes and produce large amounts of type I interferon. Nat Med 1999; 5: 919-923. (Pubitemid 29372419)
    • (1999) Nature Medicine , vol.5 , Issue.8 , pp. 919-923
    • Cella, M.1    Jarrossay, D.2    Faccheth, F.3    Alebardi, O.4    Nakajima, H.5    Lanzavecchia, A.6    Colonna, M.7
  • 5
    • 0035874538 scopus 로고    scopus 로고
    • Identification of a leukemic counterpart of the plasmacytoid dendritic cells
    • Chaperot L, Bendriss N, Manches O, Gressin R, Maynadie M, Trimoreau F et al. Identification of a leukemic counterpart of the plasmacytoid dendritic cells. Blood 2001; 97: 3210-3217.
    • (2001) Blood , vol.97 , pp. 3210-3217
    • Chaperot, L.1    Bendriss, N.2    Manches, O.3    Gressin, R.4    Maynadie, M.5    Trimoreau, F.6
  • 7
    • 34748894440 scopus 로고    scopus 로고
    • CD4+/CD56+ hematodermic neoplasm ("blastic natural killer cell lymphoma"): Neoplastic cells express the immature dendritic cell marker BDCA-2 and produce interferon
    • DOI 10.1309/W9Q5AGYDE5LANN39
    • Pilichowska ME, Fleming MD, Pinkus JL, Pinkus GS. CD4\+/CD56\+ hematodermic neoplasm ("blastic natural killer cell lymphoma"): neoplastic cells express the immature dendritic cell marker BDCA-2 and produce interferon. Am J Clin Pathol 2007; 128: 445-453. (Pubitemid 47479978)
    • (2007) American Journal of Clinical Pathology , vol.128 , Issue.3 , pp. 445-453
    • Pilichowska, M.E.1    Fleming, M.D.2    Pinkus, J.L.3    Pinkus, G.S.4
  • 11
    • 84863040874 scopus 로고    scopus 로고
    • Blastic plasmacytoid dendritic cell neoplasm
    • Lee JK, Schiller G. Blastic plasmacytoid dendritic cell neoplasm. Clin Adv Hematol Oncol 2013; 10: 60-62.
    • (2013) Clin Adv Hematol Oncol , vol.10 , pp. 60-62
    • Lee, J.K.1    Schiller, G.2
  • 13
    • 84873024184 scopus 로고    scopus 로고
    • SPIB, a novel immunohistochemical marker for human blastic plasmacytoid dendritic cell neoplasms: Characterization of its expression in major hematolymphoid neoplasms
    • Montes-Moreno S, Ramos-Medina R, Martinez-Lopez A, Barrionuevo Cornejo C, Parra Cubillos A, Quintana-Truyenque S et al. SPIB, a novel immunohistochemical marker for human blastic plasmacytoid dendritic cell neoplasms: characterization of its expression in major hematolymphoid neoplasms. Blood 2013; 121: 643-647.
    • (2013) Blood , vol.121 , pp. 643-647
    • Montes-Moreno, S.1    Ramos-Medina, R.2    Martinez-Lopez, A.3    Barrionuevo Cornejo, C.4    Parra Cubillos, A.5    Quintana-Truyenque, S.6
  • 14
    • 80055089066 scopus 로고    scopus 로고
    • Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: Focus on biallelic locus 9p21.3 deletion
    • Lucioni M, Novara F, Fiandrino G, Riboni R, Fanoni D, Arra M et al. Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion. Blood 2011; 118: 4591-4594.
    • (2011) Blood , vol.118 , pp. 4591-4594
    • Lucioni, M.1    Novara, F.2    Fiandrino, G.3    Riboni, R.4    Fanoni, D.5    Arra, M.6
  • 15
    • 79954424656 scopus 로고    scopus 로고
    • TET2 and TP53 mutations are frequently observed in blastic plasmacytoid dendritic cell neoplasm
    • Jardin F, Ruminy P, Parmentier F, Troussard X, Vaida I, Stamatoullas A et al. TET2 and TP53 mutations are frequently observed in blastic plasmacytoid dendritic cell neoplasm. Br J Haematol 2011; 153: 413-416.
    • (2011) Br J Haematol , vol.153 , pp. 413-416
    • Jardin, F.1    Ruminy, P.2    Parmentier, F.3    Troussard, X.4    Vaida, I.5    Stamatoullas, A.6
  • 18
    • 72749104723 scopus 로고    scopus 로고
    • Blastic plasmacytoid dendritic cell neoplasm: Is transplantation the treatment of choice?
    • Dalle S, Beylot-Barry M, Bagot M, Lipsker D, Machet L, Joly P et al. Blastic plasmacytoid dendritic cell neoplasm: is transplantation the treatment of choice? Br J Dermatol 2010; 162: 74-79.
    • (2010) Br J Dermatol , vol.162 , pp. 74-79
    • Dalle, S.1    Beylot-Barry, M.2    Bagot, M.3    Lipsker, D.4    MacHet, L.5    Joly, P.6
  • 19
    • 84872470209 scopus 로고    scopus 로고
    • Stem cell transplantation can provide durable disease control in blastic plasmacytoid dendritic cell neoplasm: A retrospective study from the European Group for Blood and Marrow Transplantation
    • Roos-Weil D, Dietrich S, Boumendil A, Polge E, Bron D, Carreras E et al. Stem cell transplantation can provide durable disease control in blastic plasmacytoid dendritic cell neoplasm: a retrospective study from the European Group for Blood and Marrow Transplantation. Blood 2013; 121: 440-446.
    • (2013) Blood , vol.121 , pp. 440-446
    • Roos-Weil, D.1    Dietrich, S.2    Boumendil, A.3    Polge, E.4    Bron, D.5    Carreras, E.6
  • 20
    • 84879946520 scopus 로고    scopus 로고
    • RUbioSeq: A suite of parallelized pipelines to automate exome variation and bisulfite-seq analyses
    • Rubio-Camarillo M, Gomez-Lopez G, Fernandez JM, Valencia A, Pisano DG. RUbioSeq: a suite of parallelized pipelines to automate exome variation and bisulfite-seq analyses. Bioinformatics 2013; 29: 1687-1989.
    • (2013) Bioinformatics , vol.29 , pp. 1687-1989
    • Rubio-Camarillo, M.1    Gomez-Lopez, G.2    Fernandez, J.M.3    Valencia, A.4    Pisano, D.G.5
  • 21
    • 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: 1754-1760.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 22
    • 70450177746 scopus 로고    scopus 로고
    • BFAST: An alignment tool for large scale genome resequencing
    • Homer N, Merriman B, Nelson SF. BFAST: an alignment tool for large scale genome resequencing. PLoS One 2009; 4: e7767.
    • (2009) PLoS One , vol.4
    • Homer, N.1    Merriman, B.2    Nelson, S.F.3
  • 23
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    • DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011; 43: 491-498.
    • (2011) Nat Genet , vol.43 , pp. 491-498
    • Depristo, M.A.1    Banks, E.2    Poplin, R.3    Garimella, K.V.4    Maguire, J.R.5    Hartl, C.6
  • 24
    • 77957731999 scopus 로고    scopus 로고
    • Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma
    • Jones S, Wang TL, Shih IeM, Mao TL, Nakayama K, Roden R et al. Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma. Science 2010; 330: 228-231.
    • (2010) Science , vol.330 , pp. 228-231
    • Jones, S.1    Wang, T.L.2    Iem, S.3    Mao, T.L.4    Nakayama, K.5    Roden, R.6
  • 25
    • 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: 2069-2070.
    • (2010) Bioinformatics , vol.26 , pp. 2069-2070
    • McLaren, W.1    Pritchard, B.2    Rios, D.3    Chen, Y.4    Flicek, P.5    Cunningham, F.6
  • 26
    • 84865029087 scopus 로고    scopus 로고
    • Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics
    • Fernandez-Mercado M, Yip BH, Pellagatti A, Davies C, Larrayoz MJ, Kondo T et al. Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics. PLoS One 2012; 7: e42334.
    • (2012) PLoS One , vol.7
    • Fernandez-Mercado, M.1    Yip, B.H.2    Pellagatti, A.3    Davies, C.4    Larrayoz, M.J.5    Kondo, T.6
  • 27
    • 84878372012 scopus 로고    scopus 로고
    • Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia
    • Cancer Genome Atlas Research Network
    • Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 2013; 368: 2059-2074.
    • (2013) N Engl J Med , vol.368 , pp. 2059-2074
  • 28
    • 76549109434 scopus 로고    scopus 로고
    • Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias
    • Abdel-Wahab O, Manshouri T, Patel J, Harris K, Yao J, Hedvat C et al. Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Res 2010; 70: 447-452.
    • (2010) Cancer Res , vol.70 , pp. 447-452
    • Abdel-Wahab, O.1    Manshouri, T.2    Patel, J.3    Harris, K.4    Yao, J.5    Hedvat, C.6
  • 29
    • 77954581139 scopus 로고    scopus 로고
    • Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1
    • Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia 2010; 24: 1128-1138.
    • (2010) Leukemia , vol.24 , pp. 1128-1138
    • Tefferi, A.1
  • 30
    • 70149093912 scopus 로고    scopus 로고
    • Recurring mutations found by sequencing an acute myeloid leukemia genome
    • Mardis ER, Ding L, Dooling DJ, Larson DE, McLellan MD, Chen K et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 2009; 361: 1058-1066.
    • (2009) N Engl J Med , vol.361 , pp. 1058-1066
    • Mardis, E.R.1    Ding, L.2    Dooling, D.J.3    De, L.4    McLellan, M.D.5    Chen, K.6
  • 33
    • 77949506990 scopus 로고    scopus 로고
    • Retroviral insertional mutagenesis identifies Zeb2 activation as a novel leukemogenic collaborating event in CALM-AF10 transgenic mice
    • Caudell D, Harper DP, Novak RL, Pierce RM, Slape C, Wolff L et al. Retroviral insertional mutagenesis identifies Zeb2 activation as a novel leukemogenic collaborating event in CALM-AF10 transgenic mice. Blood 2010; 115: 1194-1203.
    • (2010) Blood , vol.115 , pp. 1194-1203
    • Caudell, D.1    Harper, D.P.2    Novak, R.L.3    Pierce, R.M.4    Slape, C.5    Wolff, L.6
  • 34
    • 84866378702 scopus 로고    scopus 로고
    • The role of mutations in epigenetic regulators in myeloid malignancies
    • Shih AH, Abdel-Wahab O, Patel JP, Levine RL. The role of mutations in epigenetic regulators in myeloid malignancies. Nat Rev Cancer 2012; 12: 599-612.
    • (2012) Nat Rev Cancer , vol.12 , pp. 599-612
    • Shih, A.H.1    Abdel-Wahab, O.2    Patel, J.P.3    Levine, R.L.4
  • 35
    • 79954428737 scopus 로고    scopus 로고
    • TET2 mutations improve the new European LeukemiaNet risk classification of acute myeloid leukemia: A Cancer and Leukemia Group B study
    • Metzeler KH, Maharry K, Radmacher MD, Mrozek K, Margeson D, Becker H et al. TET2 mutations improve the new European LeukemiaNet risk classification of acute myeloid leukemia: a Cancer and Leukemia Group B study. J Clin Oncol 2011; 29: 1373-1381.
    • (2011) J Clin Oncol , vol.29 , pp. 1373-1381
    • Metzeler, K.H.1    Maharry, K.2    Radmacher, M.D.3    Mrozek, K.4    Margeson, D.5    Becker, H.6
  • 37
    • 67349124376 scopus 로고    scopus 로고
    • TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis
    • Tefferi A, Pardanani A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J et al. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia 2009; 23: 905-911.
    • (2009) Leukemia , vol.23 , pp. 905-911
    • Tefferi, A.1    Pardanani, A.2    Lim, K.H.3    Abdel-Wahab, O.4    Lasho, T.L.5    Patel, J.6
  • 38
    • 77957759961 scopus 로고    scopus 로고
    • The prognostic significance of IDH1 mutations in younger adult patients with acute myeloid leukemia is dependent on FLT3/ITD status
    • Green CL, Evans CM, Hills RK, Burnett AK, Linch DC, Gale RE. The prognostic significance of IDH1 mutations in younger adult patients with acute myeloid leukemia is dependent on FLT3/ITD status. Blood 2010; 116: 2779-2782.
    • (2010) Blood , vol.116 , pp. 2779-2782
    • Green, C.L.1    Evans, C.M.2    Hills, R.K.3    Burnett, A.K.4    Linch, D.C.5    Gale, R.E.6
  • 39
    • 79960534917 scopus 로고    scopus 로고
    • The prognostic significance of IDH2 mutations in AML depends on the location of the mutation
    • Green CL, Evans CM, Zhao L, Hills RK, Burnett AK, Linch DC et al. The prognostic significance of IDH2 mutations in AML depends on the location of the mutation. Blood 2011; 118: 409-412.
    • (2011) Blood , vol.118 , pp. 409-412
    • Green, C.L.1    Evans, C.M.2    Zhao, L.3    Hills, R.K.4    Burnett, A.K.5    Linch, D.C.6
  • 40
    • 84857997263 scopus 로고    scopus 로고
    • IDH mutations in primary myelofibrosis predict leukemic transformation and shortened survival: Clinical evidence for leukemogenic collaboration with JAK2V617F
    • Tefferi A, Jimma T, Sulai NH, Lasho TL, Finke CM, Knudson RA et al. IDH mutations in primary myelofibrosis predict leukemic transformation and shortened survival: clinical evidence for leukemogenic collaboration with JAK2V617F. Leukemia 2012; 26: 475-480.
    • (2012) Leukemia , vol.26 , pp. 475-480
    • Tefferi, A.1    Jimma, T.2    Sulai, N.H.3    Lasho, T.L.4    Finke, C.M.5    Knudson, R.A.6
  • 42
    • 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, Pan CM, Lu G, Shen Y et al. Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. Nat Genet 2011; 43: 309-315.
    • (2011) Nat Genet , vol.43 , pp. 309-315
    • Yan, X.J.1    Xu, J.2    Zh, G.3    Pan, C.M.4    Lu, G.5    Shen, Y.6
  • 43
    • 79960255863 scopus 로고    scopus 로고
    • Recurrent DNMT3A mutations in patients with myelodysplastic syndromes
    • Walter MJ, Ding L, Shen D, Shao J, Grillot M, McLellan M et al. Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. Leukemia 2011; 25: 1153-1158.
    • (2011) Leukemia , vol.25 , pp. 1153-1158
    • Walter, M.J.1    Ding, L.2    Shen, D.3    Shao, J.4    Grillot, M.5    McLellan, M.6
  • 45
    • 84873369207 scopus 로고    scopus 로고
    • Target watch: Drugging the epigenome
    • Burridge S. Target watch: drugging the epigenome. Nat Rev Drug Discov 2013; 12: 92-93.
    • (2013) Nat Rev Drug Discov , vol.12 , pp. 92-93
    • Burridge, S.1


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