Reduced DNA methylation and hydroxymethylation in patients with systemic mastocytosis

European Journal of Haematology

Volumn 95, Issue 6, 2015, Pages 566-575

  Leoni, Cristina ^a,b   Montagner, Sara ^a,b   Deho', Lorenzo ^a   D'Antuono, Rocco ^a   De Matteis, Giovanna ^c   Marzano, Angelo V ^d   Merante, Serena ^e   Orlandi, Ester M ^e   Zanotti, Roberta ^f   Monticelli, Silvia ^a  

^a INSTITUTE FOR RESEARCH IN BIOMEDICINE   (Switzerland)

^b UNIVERSITY OF BERN   (Switzerland)

^c UNIVERSITY OF VERONA   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

^e FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^f UNIVERSITY HOSPITAL OF VERONA   (Italy)

Author keywords

5 hydroxymethylation; DNA methylation; Epigenetics; Systemic mastocytosis; TET2

Indexed keywords

5 HYDROXYMETHYLCYTOSINE; 5 METHYLCYTOSINE; DNA; DNA BINDING PROTEIN; ONCOPROTEIN; TET2 PROTEIN, HUMAN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA HYDROXYMETHYLATION; DNA METHYLATION; DOT HYBRIDIZATION; GENE; GENE EXPRESSION; GENE INACTIVATION; GENE MUTATION; GENOME ANALYSIS; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; MAST CELL; ONCOGENE C KIT; PRIORITY JOURNAL; PROGNOSIS; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC MASTOCYTOSIS; TET2 GENE; BIOPSY; BONE MARROW; CELL LINE; FEMALE; GENETIC EPIGENESIS; GENETICS; IMMUNOPHENOTYPING; MALE; MASTOCYTOSIS, SYSTEMIC; METABOLISM; MUTATION; PATHOLOGY;

BIOPSY; BONE MARROW; CELL LINE; DNA METHYLATION; DNA-BINDING PROTEINS; EPIGENESIS, GENETIC; FEMALE; HUMANS; IMMUNOPHENOTYPING; MALE; MAST CELLS; MASTOCYTOSIS, SYSTEMIC; MUTATION; PROTO-ONCOGENE PROTEINS;

EID: 84955378896     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/ejh.12537     Document Type: Article

References (35)

1. Horny HP, Bennett JM, Bain BJ, et al., eds. World Health Organization (WHO) Classification of Tumors Pathology and Genetics of Tumors of Haematopoietic and Lymphoid Tissues. Lyon, France: International Agency for Research on Cancer (IARC); 2008: 54-63.
2. Akin C, Metcalfe DD. Systemic mastocytosis. Annu Rev Med 2004;55:419-32.
3. Zappulla JP, Dubreuil P, Desbois S, Letard S, Hamouda NB, Daeron M, Delsol G, Arock M, Liblau RS. Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation. J Exp Med 2005;202:1635-41.
4. Zermati Y, De Sepulveda P, Feger F, et al. Effect of tyrosine kinase inhibitor STI571 on the kinase activity of wild-type and various mutated c-kit receptors found in mast cell neoplasms. Oncogene 2003;22:660-4.
5. Ma Y, Zeng S, Metcalfe DD, Akin C, Dimitrijevic S, Butterfield JH, McMahon G, Longley BJ. The c-KIT mutation causing human mastocytosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory-type mutations. Blood 2002;99:1741-4.
6. Laine E, Chauvot de Beauchene I, Perahia D, Auclair C, Tchertanov L. Mutation D816V alters the internal structure and dynamics of c-KIT receptor cytoplasmic region: implications for dimerization and activation mechanisms. PLoS Comput Biol 2011;7:e1002068.
7. Hoermann G, Gleixner KV, Dinu GE, et al. The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease. Allergy 2014;69:810-3.
8. Feinberg AP, Ohlsson R, Henikoff S. The epigenetic progenitor origin of human cancer. Nat Rev Genet 2006;7:21-33.
9. Tahiliani M, Koh KP, Shen Y, et al. Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. Science 2009;324:930-5.
10. Ko M, Huang Y, Jankowska AM, et al. Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2. Nature 2010;468:839-43.
11. Traina F, Visconte V, Jankowska AM, et al. Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis. PLoS One 2012;7:e43090.
12. Cimmino L, Abdel-Wahab O, Levine RL, Aifantis I. TET family proteins and their role in stem cell differentiation and transformation. Cell Stem Cell 2011;9:193-204.
13. Shlush LI, Zandi S, Mitchell A, et al. Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia. Nature 2014;506:328-33.
14. Cui H, Cruz-Correa M, Giardiello FM, Hutcheon DF, Kafonek DR, Brandenburg S, Wu Y, He X, Powe NR, Feinberg AP. Loss of IGF2 imprinting: a potential marker of colorectal cancer risk. Science 2003;299:1753-5.
15. Moore LE, Pfeiffer RM, Poscablo C, et al. Genomic DNA hypomethylation as a biomarker for bladder cancer susceptibility in the Spanish Bladder Cancer Study: a case-control study. Lancet Oncol 2008;9:359-66.
16. Hsiung DT, Marsit CJ, Houseman EA, Eddy K, Furniss CS, McClean MD, Kelsey KT. Global DNA methylation level in whole blood as a biomarker in head and neck squamous cell carcinoma. Cancer Epidemiol Biomarkers Prev 2007;16:108-14.
17. McAllister SS, Weinberg RA. The tumour-induced systemic environment as a critical regulator of cancer progression and metastasis. Nat Cell Biol 2014;16:717-27.
18. Holst CR, Nuovo GJ, Esteller M, Chew K, Baylin SB, Herman JG, Tlsty TD. Methylation of p16(INK4a) promoters occurs in vivo in histologically normal human mammary epithelia. Cancer Res 2003;63:1596-601.
19. Issa JP, Ottaviano YL, Celano P, Hamilton SR, Davidson NE, Baylin SB. Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon. Nat Genet 1994;7:536-40.
20. Ghanim V, Herrmann H, Heller G, et al. 5-azacytidine and decitabine exert proapoptotic effects on neoplastic mast cells: role of FAS-demethylation and FAS re-expression, and synergism with FAS-ligand. Blood 2012;119:4242-52.
21. Tefferi A, Levine RL, Lim KH, et al. Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. Leukemia 2009;23:900-4.
22. Soucie E, Hanssens K, Mercher T, et al. In aggressive forms of mastocytosis, TET2 loss cooperates with c-KITD816V to transform mast cells. Blood 2012;120:4846-9.
23. Perbellini O, Zamo A, Colarossi S, et al. Primary role of multiparametric flow cytometry in the diagnostic work-up of indolent clonal mast cell disorders. Cytometry B Clin Cytom 2011;80:362-8.
24. Butterfield JH, Weiler DA, Hunt LW, Wynn SR, Roche PC. Purification of tryptase from a human mast cell line. J Leukoc Biol 1990;47:409-19.
25. De MG, Zanotti R, Colarossi S, et al. The impact of sensitive KIT D816V detection on recognition of indolent systemic mastocytosis. Leuk Res 2014;39:273-78.
26. Schindelin J, Arganda-Carreras I, Frise E, et al. Fiji: an open-source platform for biological-image analysis. Nat Methods 2012;9:676-82.
27. Kristensen T, Vestergaard H, Moller MB. Improved detection of the KIT D816V mutation in patients with systemic mastocytosis using a quantitative and highly sensitive real-time qPCR assay. J Mol Diagn 2011;13:180-8.
28. De Vita S, Schneider RK, Garcia M, et al. Loss of function of TET2 cooperates with constitutively active KIT in murine and human models of mastocytosis. PLoS One 2014;9:e96209.
29. Valadi H, Ekstrom K, Bossios A, Sjostrand M, Lee JJ, Lotvall JO. Exosome-mediated transfer of mRNAs and microRNAs is a novel mechanism of genetic exchange between cells. Nat Cell Biol 2007;9:654-9.
30. Friedman BS, Steinberg SC, Meggs WJ, Kaliner MA, Frieri M, Metcalfe DD. Analysis of plasma histamine levels in patients with mast cell disorders. Am J Med 1989;87:649-54.
31. Huang Y, Rao A. Connections between TET proteins and aberrant DNA modification in cancer. Trends Genet 2014;30:464-74.
32. Abdel-Wahab O, Mullally A, Hedvat C, et al. Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. Blood 2009;114:144-7.
33. Yang H, Liu Y, Bai F, et al. Tumor development is associated with decrease of TET gene expression and 5-methylcytosine hydroxylation. Oncogene 2013;32:663-9.
34. Egger G, Liang G, Aparicio A, Jones PA. Epigenetics in human disease and prospects for epigenetic therapy. Nature 2004;429:457-63.
35. Ransohoff DF. Cancer. Developing molecular biomarkers for cancer. Science 2003;299:1679-80.