nature.com

Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia - Nature Genetics

  • ️Chen, Sai-Juan
  • ️Sun Mar 13 2011
  • Bennett, J.M. et al. Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group. Br. J. Haematol. 33, 451–458 (1976).

    Article  CAS  Google Scholar 

  • Fenaux, P. et al. Acute monocytic leukaemia in adults: treatment and prognosis in 99 cases. Br. J. Haematol. 75, 41–48 (1990).

    Article  CAS  Google Scholar 

  • Bennett, J.M. et al. Long-term survival in acute myeloid leukemia: the Eastern Cooperative Oncology Group experience. Cancer 80, 2205–2209 (1997).

    Article  CAS  Google Scholar 

  • Porcu, P. et al. Hyperleukocytic leukemias and leukostasis: a review of pathophysiology, clinical presentation and management. Leuk. Lymphoma 39, 1–18 (2000).

    Article  CAS  Google Scholar 

  • Peterson, L., Dehner, L.P. & Brunning, R.D. Extramedullary masses as presenting features of acute monoblastic leukemia. Am. J. Clin. Pathol. 75, 140–148 (1981).

    Article  CAS  Google Scholar 

  • Tallman, M.S. et al. Acute monocytic leukemia (French-American-British classification M5) does not have a worse prognosis than other subtypes of acute myeloid leukemia: a report from the Eastern Cooperative Oncology Group. J. Clin. Oncol. 22, 1276–1286 (2004).

    Article  Google Scholar 

  • Schoch, C. et al. AML with 11q23/MLL abnormalities as defined by the WHO classification: incidence, partner chromosomes, FAB subtype, age distribution, and prognostic impact in an unselected series of 1897 cytogenetically analyzed AML cases. Blood 102, 2395–2402 (2003).

    Article  CAS  Google Scholar 

  • Koh, Y. et al. Different clinical importance of FLT3 internal tandem duplications in AML according to FAB classification: possible existence of distinct leukemogenesis involving monocyte differentiation pathway. Ann. Hematol. 88, 1089–1097 (2009).

    Article  CAS  Google Scholar 

  • Boissel, N. et al. Prevalence, clinical profile, and prognosis of NPM mutations in AML with normal karyotype. Blood 106, 3618–3620 (2005).

    Article  CAS  Google Scholar 

  • Schlenk, R.F. et al. Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N. Engl. J. Med. 358, 1909–1918 (2008).

    Article  CAS  Google Scholar 

  • Ley, T.J. et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 456, 66–72 (2008).

    Article  CAS  Google Scholar 

  • Stratton, M.R., Campbell, P.J. & Futreal, P.A. The cancer genome. Nature 458, 719–724 (2009).

    Article  CAS  Google Scholar 

  • Pleasance, E.D. et al. A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 463, 184–190 (2010).

    Article  CAS  Google Scholar 

  • Dalgliesh, G.L. et al. Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature 463, 360–363 (2010).

    Article  CAS  Google Scholar 

  • Morin, R.D. et al. Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin. Nat. Genet. 42, 181–185 (2010).

    Article  CAS  Google Scholar 

  • Bestor, T.H. The DNA methyltransferases of mammals. Hum. Mol. Genet. 9, 2395–2402 (2000).

    Article  CAS  Google Scholar 

  • Lucio-Eterovic, A. K. et al. Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function. Proc. Natl. Acad. Sci. USA 107, 16952–16957 (2010).

    Article  CAS  Google Scholar 

  • Zhang, S.J. et al. Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia. Proc. Natl. Acad. Sci. USA 105, 2076–2081 (2008).

    Article  CAS  Google Scholar 

  • Weng, A.P. & Aster, J.C. No T without D3: a critical role for cyclin D3 in normal and malignant precursor T cells. Cancer Cell 4, 417–418 (2003).

    Article  CAS  Google Scholar 

  • Jia, D., Jurkowska, R.Z., Zhang, X., Jeltsch, A. & Cheng, X. Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation. Nature 449, 248–251 (2007).

    Article  CAS  Google Scholar 

  • Ooi, S.K. et al. DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA. Nature 448, 714–717 (2007).

    Article  CAS  Google Scholar 

  • Xie, S. et al. Cloning, expression and chromosome locations of the human DNMT3 gene family. Gene 236, 87–95 (1999).

    Article  CAS  Google Scholar 

  • Xie, Z.H. et al. Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L. Hum. Mol. Genet. 15, 1375–1385 (2006).

    Article  CAS  Google Scholar 

  • Shah, N. & Sukumar, S. The Hox genes and their roles in oncogenesis. Nat. Rev. Cancer 10, 361–371 (2010).

    Article  CAS  Google Scholar 

  • Gross, S. et al. Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations. J. Exp. Med. 207, 339–344 (2010).

    Article  CAS  Google Scholar 

  • Gilliland, D.G. & Tallman, M.S. Focus on acute leukemias. Cancer Cell 1, 417–420 (2002).

    Article  CAS  Google Scholar 

  • Mardis, E.R. et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N. Engl. J. Med. 361, 1058–1066 (2009).

    Article  CAS  Google Scholar 

  • Ley, T.J. et al. DNMT3A mutations in acute myeloid leukemia. N. Engl. J. Med. 363, 2424–2433 (2010).

    Article  CAS  Google Scholar 

  • Yamashita, Y. et al. Array-based genomic resequencing of human leukemia. Oncogene 29, 3723–3731 (2010).

    Article  CAS  Google Scholar 

  • El-Maarri, O. et al. A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation. Hum. Mol. Genet. 18, 1755–1768 (2009).

    Article  CAS  Google Scholar 

  • Jones, P.A. DNA methylation and cancer. Oncogene 21, 5358–5360 (2002).

    Article  CAS  Google Scholar 

  • Okano, M., Bell, D.W., Haber, D.A. & Li, E. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 99, 247–257 (1999).

    Article  CAS  Google Scholar 

  • Xu, G.L. et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402, 187–191 (1999).

    Article  CAS  Google Scholar 

  • Bullinger, L. et al. Use of gene-expression profiling to identify prognostic subclasses in adult acute myeloid leukemia. N. Engl. J. Med. 350, 1605–1616 (2004).

    Article  CAS  Google Scholar 

  • Eklund, E.A. The role of HOX genes in malignant myeloid disease. Curr. Opin. Hematol. 14, 85–89 (2007).

    Article  CAS  Google Scholar 

  • Wu, H. et al. Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes. Science 329, 444–448 (2010).

    Article  CAS  Google Scholar 

  • Dang, L. et al. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 462, 739–744 (2009).

    Article  CAS  Google Scholar 

  • Panarello, C., Rosanda, C. & Morerio, C. Cryptic translocation t(5;11)(q35;p15.5) with involvement of the NSD1 and NUP98 genes without 5q deletion in childhood acute myeloid leukemia. Genes Chromosom. Cancer 35, 277–281 (2002).

    Article  CAS  Google Scholar 

  • Ng, S.B. et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat. Genet. 42, 790–793 (2010).

    Article  CAS  Google Scholar 

  • Nikoloski, G. et al. Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. Nat. Genet. 42, 665–667 (2010).

    Article  CAS  Google Scholar 

  • Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754–1760 (2009).

    Article  CAS  Google Scholar 

  • Li, H. et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078–2079 (2009).

    Article  Google Scholar 

  • Mullighan, C.G. et al. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature 446, 758–764 (2007).

    Article  CAS  Google Scholar 

  • Adzhubei, I.A. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248–249 (2010).

    Article  CAS  Google Scholar 

  • O'=Gara, M., Klimasauskas, S., Roberts, R.J. & Cheng, X. Enzymatic C5-cytosine methylation of DNA: mechanistic implications of new crystal structures for HhaL methyltransferase-DNA-AdoHcy complexes. J. Mol. Biol. 261, 634–645 (1996).

    Article  CAS  Google Scholar 

  • Garrett, M. et al. Automated docking using a Lamarckian genetic algorithm and an empirical binding free energy function. J. Comput. Chem. 19, 1639–1662 (1998).

    Article  Google Scholar