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Volumn 91, Issue 4, 2012, Pages 533-541

TET2, ASXL1, IDH1, IDH2, and c-CBL genes in JAK2- and MPL-negative myeloproliferative neoplasms

Author keywords

ASXL1; C CBL; IDH1; IDH2; Mutations; TET2

Indexed keywords

CBL PROTEIN; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; JANUS KINASE 2; THROMBOPOIETIN RECEPTOR; ASXL1 PROTEIN, HUMAN; CBL PROTEIN, HUMAN; DNA BINDING PROTEIN; IDH1 PROTEIN, HUMAN; ISOCITRATE DEHYDROGENASE; ISOCITRATE DEHYDROGENASE 2, HUMAN; JAK2 PROTEIN, HUMAN; MPL PROTEIN, HUMAN; ONCOPROTEIN; REPRESSOR PROTEIN; TET2 PROTEIN, HUMAN;

EID: 84860824343     PISSN: 09395555     EISSN: 14320584     Source Type: Journal    
DOI: 10.1007/s00277-011-1330-0     Document Type: Article
Times cited : (40)

References (34)
  • 1
    • 67651065502 scopus 로고    scopus 로고
    • Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies
    • Abdel-Wahab O, Mullally A, Hedvat C, Garcia-Manero G, PatelJ WM et al (2009) Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. Blood 114:144-147
    • (2009) Blood , vol.114 , pp. 144-147
    • Abdel-Wahab, O.1    Mullally, A.2    Hedvat, C.3    Garcia-Manero, G.4    Patelj, W.M.5
  • 5
    • 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 (2009) TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia 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
  • 6
    • 67349145955 scopus 로고    scopus 로고
    • Frequent TET2 mutations in systemic mastocytosis: Clinical, KITD816V and FIP1L1-PDGFRA correlates
    • Tefferi A, Levine RL, Lim KH, Abdel-Wahab O, Lasho TL, Patel J et al (2009) Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. Leukemia 23:900-904
    • (2009) Leukemia , vol.23 , pp. 900-904
    • Tefferi, A.1    Levine, R.L.2    Lim, K.H.3    Abdel-Wahab, O.4    Lasho, T.L.5    Patel, J.6
  • 7
    • 67650924270 scopus 로고    scopus 로고
    • Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML
    • Tefferi A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Patnaik MM et al (2009) Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML. Leukemia 23:1343-1345
    • (2009) Leukemia , vol.23 , pp. 1343-1345
    • Tefferi, A.1    Lim, K.H.2    Abdel-Wahab, O.3    Lasho, T.L.4    Patel, J.5    Patnaik, M.M.6
  • 8
    • 79952042287 scopus 로고    scopus 로고
    • Genetics of the myeloproliferative neoplasms
    • Abdel-Wahab (2011) Genetics of the myeloproliferative neoplasms. Curr Opin Hematol 18:117-123
    • (2011) Curr Opin Hematol , vol.18 , pp. 117-123
    • Abdel-Wahab1
  • 10
    • 66849124925 scopus 로고    scopus 로고
    • Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia
    • Gelsi-Boyer V, Trouplin V, Adélaïde J, Bonansea J, Cervera N, Carbuccia N et al (2009) Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematology 145:788-800
    • (2009) Br J Haematology , vol.145 , pp. 788-800
    • Gelsi-Boyer, V.1    Trouplin, V.2    Adélaïde, J.3    Bonansea, J.4    Cervera, N.5    Carbuccia, N.6
  • 11
    • 79951865273 scopus 로고    scopus 로고
    • Concomitant analysis of EZH2 and ASXL1 Mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms
    • Abstr. 3070
    • Abdel-Wahab O, Pardanani A, Patel J, Lasho T, Heguy A, Levine RL et al (2010) Concomitant analysis of EZH2 and ASXL1 Mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms. Blood (ASH Annual Meeting Abstracts) 116:1267, Abstr. 3070
    • (2010) Blood (ASH Annual Meeting Abstracts) , vol.116 , pp. 1267
    • Abdel-Wahab, O.1    Pardanani, A.2    Patel, J.3    Lasho, T.4    Heguy, A.5    Levine, R.L.6
  • 12
    • 77950968519 scopus 로고    scopus 로고
    • Distinct clinical and biological characteristics in adult acute myeloid leukemia bearing isocitrate dehydrogenase 1 (IDH1) mutation
    • Chou WC, Hou HA, Chen CY, Tang JL, Yao M, Tsay KO et al (2010) Distinct clinical and biological characteristics in adult acute myeloid leukemia bearing isocitrate dehydrogenase 1 (IDH1) mutation. Blood 115:2749-2754
    • (2010) Blood , vol.115 , pp. 2749-2754
    • Chou, W.C.1    Hou, H.A.2    Chen, C.Y.3    Tang, J.L.4    Yao, M.5    Tsay, K.O.6
  • 14
    • 75449119103 scopus 로고    scopus 로고
    • Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms
    • Green A, Beer P (2010) Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms. N Engl J Med 362:369-370
    • (2010) N Engl J Med , vol.362 , pp. 369-370
    • Green, A.1    Beer, P.2
  • 15
    • 77954573304 scopus 로고    scopus 로고
    • IDH1 and IDH2 mutation analysis in chronic- and blast-phase myeloproliferative neoplasms
    • Pardanani A, Lasho TL, Finke CM, Mai M, McClure RF, Tefferi A (2010) IDH1 and IDH2 mutation analysis in chronic- and blast-phase myeloproliferative neoplasms. Leukemia 24:1146-1151
    • (2010) Leukemia , vol.24 , pp. 1146-1151
    • Pardanani, A.1    Lasho, T.L.2    Finke, C.M.3    Mai, M.4    McClure, R.F.5    Tefferi, A.6
  • 16
    • 77954658823 scopus 로고    scopus 로고
    • IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis
    • Tefferi A, Lasho TL, Abdel-Wahab O, Guglielmelli P, Patel J, Caramazza D et al (2010) IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis. Leukemia 24:1302-1309
    • (2010) Leukemia , vol.24 , pp. 1302-1309
    • Tefferi, A.1    Lasho, T.L.2    Abdel-Wahab, O.3    Guglielmelli, P.4    Patel, J.5    Caramazza, D.6
  • 17
    • 77649305610 scopus 로고    scopus 로고
    • The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate
    • Ward PS, Patel J, Wise DR, Abdel-Wahab O, Bennett BD, Coller HA et al (2010) The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. Cancer Cell 17:225-234
    • (2010) Cancer Cell , vol.17 , pp. 225-234
    • Ward, P.S.1    Patel, J.2    Wise, D.R.3    Abdel-Wahab, O.4    Bennett, B.D.5    Coller, H.A.6
  • 19
    • 57749114621 scopus 로고    scopus 로고
    • 250 K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies
    • Dunbar AJ, Gondek LP, O'Keefe CL, Makishima H, Rataul MS, Szpurka H et al (2008) 250 K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res 68:10349-10357
    • (2008) Cancer Res , vol.68 , pp. 10349-10357
    • Dunbar, A.J.1    Gondek, L.P.2    O'Keefe, C.L.3    Makishima, H.4    Rataul, M.S.5    Szpurka, H.6
  • 20
    • 67650401377 scopus 로고    scopus 로고
    • Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms
    • Grand FH, Hidalgo-Curtis CE, Ernst T, Zoi K, Zoi C, McGuire C et al (2009) Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood 113:6182-6192
    • (2009) Blood , vol.113 , pp. 6182-6192
    • Grand, F.H.1    Hidalgo-Curtis, C.E.2    Ernst, T.3    Zoi, K.4    Zoi, C.5    McGuire, C.6
  • 21
    • 70349249988 scopus 로고    scopus 로고
    • Mutations in CBL occur frequently in juvenile myelomonocytic leukemia
    • Loh ML, Sakai DS, Flotho C, Kang M, Fliegauf M, Archambeault S et al (2009) Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood 114:1859-1863
    • (2009) Blood , vol.114 , pp. 1859-1863
    • Loh, M.L.1    Sakai, D.S.2    Flotho, C.3    Kang, M.4    Fliegauf, M.5    Archambeault, S.6
  • 22
    • 65249132999 scopus 로고    scopus 로고
    • CBL exon 8/9 mutants activate the FLT3 pathway and cluster in core binding factor/11q deletion acute myeloid leukemia/myelodysplastic syndrome subtypes
    • Reindl C, Quentmeier H, Petropoulos K, Greif PA, Benthaus T, Argiropoulos B et al (2009) CBL exon 8/9 mutants activate the FLT3 pathway and cluster in core binding factor/11q deletion acute myeloid leukemia/myelodysplastic syndrome subtypes. Clin Cancer Res 215:2238-2247
    • (2009) Clin Cancer Res , vol.215 , pp. 2238-2247
    • Reindl, C.1    Quentmeier, H.2    Petropoulos, K.3    Greif, P.A.4    Benthaus, T.5    Argiropoulos, B.6
  • 23
    • 63449099560 scopus 로고    scopus 로고
    • JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms
    • Jones AV, Chase A, Silver RT, Oscier D, Zoi K, Wang YL et al (2009) JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet 41:446-449
    • (2009) Nat Genet , vol.41 , pp. 446-449
    • Jones, A.V.1    Chase, A.2    Silver, R.T.3    Oscier, D.4    Zoi, K.5    Wang, Y.L.6
  • 24
    • 63449127583 scopus 로고    scopus 로고
    • A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms
    • Kilpivaara O, Mukherjee S, Schram AM, Wadleigh M, Mullally A, Ebert BL et al (2009) A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. Nat Genet 41:455-459
    • (2009) Nat Genet , vol.41 , pp. 455-459
    • Kilpivaara, O.1    Mukherjee, S.2    Schram, A.M.3    Wadleigh, M.4    Mullally, A.5    Ebert, B.L.6
  • 26
    • 70350111160 scopus 로고    scopus 로고
    • The 'GGCC'haplotype of JAK2 confers susceptibility to JAK2 exon 12 mutation-positive polycythemia vera
    • Olcaydu D, Skoda RC, Looser R, Li S, Cazzola M, Pietra D et al (2009) The 'GGCC'haplotype of JAK2 confers susceptibility to JAK2 exon 12 mutation-positive polycythemia vera. Leukemia 23:1924-1926
    • (2009) Leukemia , vol.23 , pp. 1924-1926
    • Olcaydu, D.1    Skoda, R.C.2    Looser, R.3    Li, S.4    Cazzola, M.5    Pietra, D.6
  • 27
    • 77953925295 scopus 로고    scopus 로고
    • The JAK2 46/1 haplotype predisposes to MPLmutated myeloproliferative neoplasms
    • Jones AV, Campbell PJ, Beer PA, Schnittger S, Vannucchi AM, Zoi K et al (2010) The JAK2 46/1 haplotype predisposes to MPLmutated myeloproliferative neoplasms. Blood 115:4517-4523
    • (2010) Blood , vol.115 , pp. 4517-4523
    • Jones, A.V.1    Campbell, P.J.2    Beer, P.A.3    Schnittger, S.4    Vannucchi, A.M.5    Zoi, K.6
  • 28
    • 77950977381 scopus 로고    scopus 로고
    • Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm
    • Beer PA, Delhommeau F, LeCouédic JP, Dawson MA, Chen E, Bareford D et al (2009) Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm. Blood 115:2891-2900
    • (2009) Blood , vol.115 , pp. 2891-2900
    • Beer, P.A.1    Delhommeau, F.2    Lecouédic, J.P.3    Dawson, M.A.4    Chen, E.5    Bareford, D.6
  • 29
    • 76549109434 scopus 로고    scopus 로고
    • Genetic analysis of transforming events that convert chronic myeloproliferative neoplasm to leukemias
    • Abdel-Wahab O, Manshouri T, Patel J (2010) Genetic analysis of transforming events that convert chronic myeloproliferative neoplasm to leukemias. Canc Res 70:447-452
    • (2010) Canc Res , vol.70 , pp. 447-452
    • Abdel-Wahab, O.1    Manshouri, T.2    Patel, J.3
  • 30
    • 77950388949 scopus 로고    scopus 로고
    • Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms
    • Schaub FX, Looser R, Li S, Hao-Shen H, Lehmann T, Tichelli A, Skoda RC (2010) Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms. Blood 115:2003-2007
    • (2010) Blood , vol.115 , pp. 2003-2007
    • Schaub, F.X.1    Looser, R.2    Li, S.3    Hao-Shen, H.4    Lehmann, T.5    Tichelli, A.6    Skoda, R.C.7
  • 32
    • 77956237515 scopus 로고    scopus 로고
    • Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1
    • Kohlmann A, Grossmann V, Klein HU, Schindela S, Weiss T, Kazak B et al (2010) Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1. J Clin Oncol 28:3858-3865
    • (2010) J Clin Oncol , vol.28 , pp. 3858-3865
    • Kohlmann, A.1    Grossmann, V.2    Klein, H.U.3    Schindela, S.4    Weiss, T.5    Kazak, B.6
  • 33
    • 78149454504 scopus 로고    scopus 로고
    • Next-generation sequencing of the TET2 gene in 355MDS and CMML patients reveals low-abundance mutant clones with early origins, but indicates no definite prognostic value
    • Smith AE, Mohamedali AM, Kulasekararaj A, Lim Z, Gäken J, Lea NC, Przychodzen B et al (2010) Next-generation sequencing of the TET2 gene in 355MDS and CMML patients reveals low-abundance mutant clones with early origins, but indicates no definite prognostic value. Blood 116:3923-3932
    • (2010) Blood , vol.116 , pp. 3923-3932
    • Smith, A.E.1    Mohamedali, A.M.2    Kulasekararaj, A.3    Lim, Z.4    Gäken, J.5    Lea, N.C.6    Przychodzen, B.7
  • 34
    • 79956291339 scopus 로고    scopus 로고
    • TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression
    • Jädersten M, Saft L, Smith A, Kulasekararaj A, Pomplun S, Göhring G et al (2011) TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression. J Clin Oncol 29:1971-1979
    • (2011) J Clin Oncol , vol.29 , pp. 1971-1979
    • Jädersten, M.1    Saft, L.2    Smith, A.3    Kulasekararaj, A.4    Pomplun, S.5    Göhring, G.6


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