DNMT3AR882H mutant and Tet2 inactivation cooperate in the deregulation of DNA methylation control to induce lymphoid malignancies in mice (original) (raw)

• Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med 2010; 363: 2424–2433.
  Article CAS Google Scholar
• 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.
  Article CAS Google Scholar
• Couronne L, Bastard C, Bernard OA . TET2 and DNMT3A mutations in human T-cell lymphoma. N Engl J Med 2012; 366: 95–96.
  Article CAS Google Scholar
• Kim SJ, Zhao H, Hardikar S, Singh AK, Goodell MA, Chen T . A DNMT3A mutation common in AML exhibits dominant-negative effects in murine ES cells. Blood 2013; 122: 4086–4089.
  Article CAS Google Scholar
• Russler-Germain DA, Spencer DH, Young MA, Lamprecht TL, Miller CA, Fulton R et al. The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers. Cancer Cell 2014; 25: 442–454.
  Article CAS Google Scholar
• Challen GA, Sun D, Jeong M, Luo M, Jelinek J, Berg JS et al. Dnmt3a is essential for hematopoietic stem cell differentiation. Nat Genet 2012; 44: 23–31.
  Article CAS Google Scholar
• Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Masse et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009; 360: 2289–2301.
  Article Google Scholar
• Quivoron C, Couronne L, Della Valle V, Lopez CK, Plo I, Wagner-Ballon O et al. TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis. Cancer Cell 2011; 20: 25–38.
  Article CAS Google Scholar
• Langemeijer SM, Kuiper RP, Berends M, Knops R, Aslanyan MG, Massop M et al. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet 2009; 41: 838–842.
  Article CAS Google Scholar
• Scourzic L, Mouly E, Bernard OA . TET proteins and the control of cytosine demethylation in cancer. Genome Med 2015; 7: 9.
  Article Google Scholar
• Chen E, Schneider RK, Breyfogle LJ, Rosen EA, Poveromo L, Elf S et al. Distinct effects of concomitant Jak2V617F expression and Tet2 loss in mice promote disease progression in myeloproliferative neoplasms. Blood 2015; 125: 327–335.
  Article CAS Google Scholar
• Kameda T, Shide K, Yamaji T, Kamiunten A, Sekine M, Taniguchi Y et al. Loss of TET2 has dual roles in murine myeloproliferative neoplasms: disease sustainer and disease accelerator. Blood 2015; 125: 304–315.
  Article CAS Google Scholar
• Lobry C, Ntziachristos P, Ndiaye-Lobry D, Oh P, Cimmino L, Zhu N et al. Notch pathway activation targets AML-initiating cell homeostasis and differentiation. J Exp Med 2013; 210: 301–319.
  Article CAS Google Scholar
• Muto T, Sashida G, Oshima M, Wendt GR, Mochizuki-Kashio M, Nagata Y et al. Concurrent loss of Ezh2 and Tet2 cooperates in the pathogenesis of myelodysplastic disorders. J Exp Med 2013; 210: 2627–2639.
  Article CAS Google Scholar
• Rasmussen KD, Jia G, Johansen JV, Pedersen MT, Rapin N, Bagger FO et al. Loss of TET2 in hematopoietic cells leads to DNA hypermethylation of active enhancers and induction of leukemogenesis. Genes Dev 2015; 29: 910–922.
  Article CAS Google Scholar
• Shih AH, Jiang Y, Meydan C, Shank K, Pandey S, Barreyro L et al. Mutational cooperativity linked to combinatorial epigenetic gain of function in acute myeloid leukemia. Cancer Cell 2015; 27: 502–515.
  Article CAS Google Scholar
• Soucie E, Hanssens K, Mercher T, Georgin-Lavialle S, Damaj G, Livideanu C et al. In aggressive forms of mastocytosis, TET2 loss cooperates with c-KITD816V to transform mast cells. Blood 2012; 120: 4846–4849.
  Article CAS Google Scholar
• Palomero T, Couronne L, Khiabanian H, Kim MY, Ambesi-Impiombato A, Perez-Garcia et al. Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas. Nat Genet 2014; 46: 166–170.
  Article CAS Google Scholar
• Sakata-Yanagimoto M, Enami T, Yoshida K, Shiraishi Y, Ishii R, Miyake Y et al. Somatic RHOA mutation in angioimmunoblastic T cell lymphoma. Nat Genet 2014; 46: 171–175.
  Article CAS Google Scholar
• Lemonnier F, Couronne L, Parrens M, Jais JP, Travert M, Lamant L et al. Recurrent TET2 mutations in peripheral T-cell lymphomas correlate with TFH-like features and adverse clinical parameters. Blood 2012; 120: 1466–1469.
  Article CAS Google Scholar
• Malinge S, Ragu C, Della-Valle V, Pisani D, Constantinescu SN, Perez C et al. Activating mutations in human acute megakaryoblastic leukemia. Blood 2008; 112: 4220–4226.
  Article CAS Google Scholar
• Williams K, Christensen J, Pedersen MT, Johansen JV, Cloos PA, Rappsilber J et al. TET1 and hydroxymethylcytosine in transcription and DNA methylation fidelity. Nature 2011; 473: 343–348.
  Article CAS Google Scholar
• Gu H, Smith ZD, Bock C, Boyle P, Gnirke A, Meissner A . Preparation of reduced representation bisulfite sequencing libraries for genome-scale DNA methylation profiling. Nat Protoc 2011; 6: 468–481.
  Article CAS Google Scholar
• Thiollier C, Lopez CK, Gerby B, Ignacimouttou C, Poglio S, Duffourd Y et al. Characterization of novel genomic alterations and therapeutic approaches using acute megakaryoblastic leukemia xenograft models. J Exp Med 2012; 209: 2017–2031.
  Article CAS Google Scholar
• Crotty S . Follicular helper CD4 T cells (TFH). Annu Rev Immunol 2011; 29: 621–663.
  Article CAS Google Scholar
• de Leval L, Rickman DS, Thielen C, Reynies A, Huang YL, Delsol G et al. The gene expression profile of nodal peripheral T-cell lymphoma demonstrates a molecular link between angioimmunoblastic T-cell lymphoma (AITL) and follicular helper T (TFH) cells. Blood 2007; 109: 4952–4963.
  Article CAS Google Scholar
• Virgilio L, Lazzeri C, Bichi R, Nibu K, Narducci MG, Russo G et al. Deregulated expression of TCL1 causes T cell leukemia in mice. Proc Natl Acad Sci USA 1998; 95: 3885–3889.
  Article CAS Google Scholar
• Chiang MY, Xu L, Shestova O, Histen G, L'Heureux S, Romany C et al. Leukemia-associated NOTCH1 alleles are weak tumor initiators but accelerate K-ras-initiated leukemia. J Clin Invest 2008; 118: 3181–3194.
  Article CAS Google Scholar
• Tsagaratou A, Aijo T, Lio CW, Yue X, Huang Y, Jacobsen SE et al. Dissecting the dynamic changes of 5-hydroxymethylcytosine in T-cell development and differentiation. Proc Natl Acad Sci USA 2014; 111: E3306–E3315.
  Article CAS Google Scholar
• Steinke FC, Yu S, Zhou X, He B, Yang W, Zhou B et al. TCF-1 and LEF-1 act upstream of Th-POK to promote the CD4(+) T cell fate and interact with Runx3 to silence Cd4 in CD8(+) T cells. Nat Immunol 2014 Jul; 15: 646–656.
  Article CAS Google Scholar
• Yu S, Xue HH . TCF-1 mediates repression of Notch pathway in T lineage-committed early thymocytes. Blood 2013; 121: 4008–4009.
  Article CAS Google Scholar
• Staal FJ, Clevers H . Tales of the unexpected: Tcf1 functions as a tumor suppressor for leukemias. Immunity 2012; 37: 761–763.
  Article CAS Google Scholar
• Li Chew C, Lunardi A, Gulluni F, Ruan DT, Chen M, Salmena L et al. In vivo role of INPP4B in tumor and metastasis suppression through regulation of PI3K-AKT signaling at endosomes. Cancer Discov 2015; 5: 740–751.
  Article CAS Google Scholar
• Kofuji S, Kimura H, Nakanishi H, Nanjo H, Takasuga S, Liu H et al. INPP4B Is a PtdIns(3,4,5)P3 phosphatase that can act as a tumor suppressor. Cancer Discov 2015; 5: 730–739.
  Article CAS Google Scholar
• Greif PA, Eck SH, Konstandin NP, Benet-Pages A, Ksienzyk B, Dufour et al. Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing. Leukemia 2011; 25: 821–827.
  Article CAS Google Scholar
• Wei J, Wunderlich M, Fox C, Alvarez S, Cigudosa JC, Wilhelm JS et al. Microenvironment determines lineage fate in a human model of MLL-AF9 leukemia. Cancer Cell 2008; 13: 483–495.
  Article CAS Google Scholar
• Mayle A, Yang L, Rodriguez B, Zhou T, Chang E, Curry CV et al. Dnmt3a loss predisposes murine hematopoietic stem cells to malignant transformation. Blood 2015; 125: 629–638.
  Article CAS Google Scholar
• Peters SL, Hlady RA, Opavska J, Klinkebiel D, Pirruccello SJ, Talmon GA et al. Tumor suppressor functions of Dnmt3a and Dnmt3b in the prevention of malignant mouse lymphopoiesis. Leukemia 2014; 28: 1138–1142.
  Article CAS Google Scholar
• Dorfman DM, Greisman HA, Shahsafaei A . Loss of expression of the WNT/beta-catenin-signaling pathway transcription factors lymphoid enhancer factor-1 (LEF-1) and T cell factor-1 (TCF-1) in a subset of peripheral T cell lymphomas. Am J Pathol 2003; 162: 1539–1544.
  Article CAS Google Scholar
• Lee HO, He X, Mookerjee-Basu J, Zhongping D, Hua X, Nicolas E et al. Disregulated expression of the transcription factor ThPOK during T-cell development leads to high incidence of T-cell lymphomas. Proc Natl Acad Sci USA 2015; 112: 7773–7778.
  Article CAS Google Scholar
• Grossmann V, Haferlach C, Weissmann S, Roller A, Schindela S, Poetzinger F et al. The molecular profile of adult T-cell acute lymphoblastic leukemia: mutations in RUNX1 and DNMT3A are associated with poor prognosis in T-ALL. Genes Chromosomes Cancer 2013; 52: 410–422.
  Article CAS Google Scholar
• Neumann M, Heesch S, Schlee C, Schwartz S, Gokbuget N, Hoelzer D et al. Whole-exome sequencing in adult ETP-ALL reveals a high rate of DNMT3A mutations. Blood 2013; 121: 4749–4752.
  Article CAS Google Scholar
• Ellyard JI, Chia T, Rodriguez-Pinilla SM, Martin JL, Hu X, Navarro-Gonzalez M et al. Heterozygosity for Roquinsan leads to angioimmunoblastic T-cell lymphoma-like tumors in mice. Blood 2012; 120: 812–821.
  Article Google Scholar
• Muto H, Sakata-Yanagimoto M, Nagae G, Shiozawa Y, Miyake Y, Yoshida K et al. Reduced TET2 function leads to T-cell lymphoma with follicular helper T-cell-like features in mice. Blood Cancer J 2014; 4: e264.
  Article CAS Google Scholar
• Kluk MJ, Ashworth T, Wang H, Knoechel B, Mason EF, Morgan EA et al. Gauging NOTCH1 activation in cancer using immunohistochemistry. PLoS One 2013; 8: e67306.
  Article CAS Google Scholar
• Broske AM, Vockentanz L, Kharazi S, Huska MR, Mancini E, Scheller M et al. DNA methylation protects hematopoietic stem cell multipotency from myeloerythroid restriction. Nat Genet 2009; 41: 1207–1215.
  Article Google Scholar
• Auderset F, Schuster S, Fasnacht N, Coutaz M, Charmoy M, Koch U et al. Notch signaling regulates follicular helper T cell differentiation. J Immunol 2013; 191: 2344–2350.
  Article CAS Google Scholar
• Fasnacht N, Huang HY, Koch U, Favre S, Auderset F, Chai Q et al. Specific fibroblastic niches in secondary lymphoid organs orchestrate distinct Notch-regulated immune responses. J Exp Med 2014; 211: 2265–2279.
  Article Google Scholar