Efects of TET2 mutations on DNA methylation in chronic myelomonocytic leukemia

Epigenetics

Volumn 7, Issue 2, 2012, Pages 201-207

  Yamazaki, Jumpei ^a   Taby, Rodolphe ^a   Vasanthakumar, Aparna ^b   Macrae, Trisha ^b   Ostler, Kelly R ^b   Shen, Lanlan ^c   Kantarjian, Hagop M ^a   Estecio, Marcos R ^a   Jelinek, Jaroslav ^a   Godley, Lucy A ^b   Issa, Jean Pierre ^a,d  

^a UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c CHILDREN S NUTRITION RESEARCH CENTER   (United States)

^d TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

CMML; DNA methylation; Mutation; Promoter; TET2

Indexed keywords

5 AZA 2' DEOXYCYTIDINE; 5 METHYLCYTOSINE; DNA; GENOMIC DNA; MEMBRANE PROTEIN; TET2 PROTEIN; UNCLASSIFIED DRUG; AIM2 PROTEIN, HUMAN; CELL NUCLEUS ANTIGEN; DNA BINDING PROTEIN; NUCLEAR PROTEIN; ONCOPROTEIN; SP140 PROTEIN, HUMAN; TET2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; AGED; AMINO ACID ANALYSIS; ARTICLE; BONE MARROW CELL; CHRONIC MYELOMONOCYTIC LEUKEMIA; CLINICAL ARTICLE; CONTROLLED STUDY; CPG ISLAND; DNA METHYLATION; ENZYME ACTIVE SITE; EXON; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GLIOBLASTOMA; HETEROZYGOSITY; HUMAN; MALE; MALIGNANT TRANSFORMATION; MASS SPECTROMETRY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROGRESSION FREE SURVIVAL; PROMOTER REGION; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; WILD TYPE; GENETICS; METABOLISM; MIDDLE AGED; MUTATION;

5-METHYLCYTOSINE; ADULT; AGED; AGED, 80 AND OVER; ANTIGENS, NUCLEAR; DNA METHYLATION; DNA-BINDING PROTEINS; FEMALE; HUMANS; LEUKEMIA, MYELOMONOCYTIC, CHRONIC; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS; TRANSCRIPTION FACTORS;

EID: 84857150890     PISSN: 15592294     EISSN: 15592308     Source Type: Journal    
DOI: 10.4161/epi.7.2.19015     Document Type: Article

References (32)

1. Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Massé A, et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009; 360:2289-301
2. Tefferi A, Levine RL, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, et al. Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. Leukemia 2009; 23:900-4; PMID:19262599; http://dx.doi.org/10.1038/leu.2009.37.
3. Tefferi A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Patnaik MM, et al. Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML MDS, MDS/MPN and AML. Leukemia 2009; 23:1343-5; PMID:19295549; http://dx.doi.org/10.1038/leu.2009.59.
4. 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; 41:838-42; PMID:19483684; http://dx.doi.org/10.1038/ng.391.
5. Jankowska AM, Szpurka H, Tiu RV, Makishima H, Afable M, Huh J, et al. Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/ myeloproliferative neoplasms. Blood 2009; 113:6403-10; PMID:19372255; http://dx.doi.org/10.1182/blood-2009-02-205690.
6. Abdel-Wahab O, Mullally A, Hedvat C, Garcia-Manero G, Patel J, Wadleigh M, et al. Genetic characterization of TET1, TET2 and TET3 alterations in myeloid malignancies. Blood 2009; 114:144-7; PMID:19420352; http://dx.doi.org/10.1182/blood-2009-03-210039.
7. Kosmider O, Gelsi-Boyer V, Ciudad M, Racoeur C, Jooste V, Vey N, et al. Groupe Francophone des Myélodysplasies. TET2 gene mutation is a frequent and adverse event in chronic myelomonocytic leukemia. Haematologica 2009; 94:1676-81; PMID:19797729; http://dx.doi.org/10.3324/haematol.2009.011205.
8. Tahiliani M, Koh KP, Shen Y, Pastor WA, Bandukwala H, Brudno Y, et al. Conversion of 5-methylcyto-sine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. Science 2009; 324:930-5; PMID:19372391; http://dx.doi.org/10.1126/sci-ence.1170116.
9. Ito S, D'Alessio AC, Taranova OV, Hong K, Sowers LC, Zhang Y Role of Tet proteins in 5mC to 5 hmC conversion, ES-cell self-renewal and inner cell mass specification. Nature 2010; 466:1129-33; PMID:20639862; http://dx.doi.org/10.1038/nature09303.
10. Ko M, Huang Y, Jankowska AM, Pape UJ, Tahiliani M, Bandukwala HS, et al. Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2. Nature 2010; 468:839-43; PMID:21057493; http://dx.doi.org/10.1038/nature09586.
11. Figueroa ME, Abdel-Wahab O, Lu C, Ward PS, Patel J, Shih A, et al. Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function and impair hematopoietic differentiation. Cancer Cell 2010; 18:553-67; PMID:21130701; http://dx.doi.org/10.1016/j.ccr.2010.11.015.
12. Moran-Crusio K, Reavie L, Shih A, Abdel-Wahab O, Ndiaye-Lobry D, Lobry C, et al. Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation. Cancer Cell 2011; 20:11- 24; PMID:21723200; http://dx.doi.org/10.1016/j.ccr.2011.06.001.
13. Quivoron C, Couronné L, Della Valle V, Lopez CK, Plo L, 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; PMID:21723201; http://dx.doi.org/10.1016/j.ccr.2011.06.003.
14. Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 1997; 89:2079-88; PMID:9058730.
15. Shen L, Kantarjian H, Guo Y, Lin E, Shan J, Huang X, et al. DNA methylation predicts survival and response to therapy in patients with myelodysplastic syndromes. J Clin Oncol 2010; 28:605-13; PMID:20038729; http://dx.doi.org/10.1200/JCO.2009.23.4781.
16. Yoshida K, Sanada M, Kato M, Kawahata R, Matsubara A, Takita J, et al. A nonsense mutation of IDH1 in myelodysplastic syndromes and related disorders. Leukemia 2011; 25:184-6; PMID:20962861; http://dx.doi.org/10.1038/leu.2010.241.
17. Grossmann V, Kohlmann A, Eder C, Haferlach C, Kern W, Cross NC, et al. Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance. Leukemia 2011; 25:877-9; PMID:21339759; http://dx.doi.org/10.1038/leu.2011.10.
18. Walter MJ, Ding L, Shen D, Shao J, Grillot M, McLellan M, et al. Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. Leukemia 2011; 25:1153-8; PMID:21415852; http://dx.doi.org/10.1038/leu.2011.44.
19. Kosmider O, Gelsi-Boyer V, Cheok M, Grabar S, Della-Valle V, Picard F, et al. Groupe Francophone des Myélodysplasies. TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDSs). Blood 2009; 114:3285-91;PMID:19666869; http://dx.doi.org/10.1182/blood-2009-04-215814.
20. Patsos G, Germann A, Gebert J, Dihlmann S. Restoration of absent in melanoma 2 (AIM2) induces G /M cell cycle arrest and promotes invasion of colorectal cancer cells. Int J Cancer 2010; 126:1838-49; PMID:19795419.
21. Zong RT, Das C, Tucker PW Regulation of matrix attachment region-dependent, lymphocyte-restricted transcription through differential localization within promyelocytic leukemia nuclear bodies. EMBO J 2000; 19:4123-33; PMID:10921892; http://dx.doi.org/10.1093/emboj/19.15.4123.
22. Di Bernardo MC, Crowther-Swanepoel D, Broderick P, Webb E, Sellick G, Wild R, et al. A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia. Nat Genet 2008; 40:1204-10; PMID:18758461; http://dx.doi.org/10.1038/ng.219.
23. Williams K, Christensen J, Pedersen MT, Johansen JV, Cloos PA, Rappsilber J, et al. TET1 and hydroxy-methylcytosine in transcription and DNA methylation fidelity. Nature 2011; 473:343-8; PMID:21490601; http://dx.doi.org/10.1038/nature10066.
24. Wu H, D'Alessio AC, Ito S, Xia K, Wang Z, Cui K, et al. Dual functions of Tet1 in transcriptional regulation in mouse embryonic stem cells. Nature 2011; 473:389-93;PMID:21451524; http://dx.doi.org/10.1038/nature09934.
25. Kantarjian H, Oki Y, Garcia-Manero G, Huang X, O'Brien S, Cortes J, et al. Results of a randomized study of 3 schedules of low-dose decitabine in higher-risk myelodysplastic syndrome and chronic myelomonocytic leukemia. Blood 2007; 109:52-7; PMID:16882708; http://dx.doi.org/10.1182/blood-2006-05-021162.
26. Ng PC, Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet 2006; 7:61-80; PMID:16824020; http://dx.doi.org/10.1146/annurev.genom.7.080505.115630.
27. Kosmider O, Gelsi-Boyer V, Slama L, Dreyfus F, Beyne-Rauzy O, Quesnel B, et al. Mutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and MDS/myelo-proliferative neoplasms. Leukemia 2010; 24:1094-6; PMID:20376084; http://dx.doi.org/10.1038/leu.2010.52.
28. Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, Yuan W, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009; 360:765-73; PMID:19228619; http://dx.doi.org/10.1056/NEJMoa0808710.
29. 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; 363:2424-33; PMID:21067377; http://dx.doi.org/10.1056/NEJMoa1005143.
30. Colella S, Shen L, Baggerly KA, Issa J P, Krahe R. Sensitive and quantitative universal Pyrosequencing methylation analysis of CpG sites. Biotechniques 2003; 35:146-50; PMID:12866414.
31. Song L, James SR, Kazim L, Karpf AR. Specific method for the determination of genomic DNA methyla-tion by liquid chromatography-electrospray ionization tandem mass spectrometry. Anal Chem 2005; 77:504-10; PMID:15649046; http://dx.doi.org/10.1021/ac0489420.
32. Mohamedali AM, Smith AE, Gaken J, Lea NC, Mian SA, Westwood NB, et al. Novel TET2 mutations associated with UPD4q24 in myelodysplastic syndrome. J Clin Oncol 2009; 27:4002-6; PMID:19528370; http://dx.doi.org/10.1200/JCO.2009.22.6985.