Myelodysplastic syndromes: Lost between two states

Leukemia

Volumn 24, Issue 1, 2010, Pages 1-5

  Acquaviva, C ^a   Gelsi Boyer, V ^a   Birnbaum, D ^a  

^a INSTITUT PAOLI CALMETTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADDITIONAL SEX COMBS LIKE 1 PROTEIN; CYCLIN DEPENDENT KINASE 2; HISTONE ACETYLTRANSFERASE; JANUS KINASE 2; MIXED LINEAGE LEUKEMIA PROTEIN; NUCLEOPORIN 98; ONCOPROTEIN; POLYCOMB GROUP PROTEIN; PROTEIN P16; PROTEIN P190; PROTEIN P53; PROTEIN TET2; RAS PROTEIN; RIBOSOME PROTEIN; TETRATRICOPEPTIDE REPEAT PROTEIN; UBIQUITOUSLY TRANSCRIBED X CHROMOSOME TETRATRICOPEPTIDE REPEAT PROTEIN; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; APOPTOSIS; CANCER CLASSIFICATION; CARCINOGENESIS; CELL DIFFERENTIATION; CELL RENEWAL; CHROMOSOME 4Q; CHROMOSOME 5Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; EDITORIAL; EPIGENETICS; GENE DELETION; GENE MUTATION; HEMATOPOIETIC STEM CELL; HETEROZYGOSITY; HUMAN; METHYLATION; MYELODYSPLASTIC SYNDROME; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; PROGNOSIS; RISK ASSESSMENT; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION;

EID: 74249103981     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2009.157     Document Type: Editorial

References (68)

1. Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G et al. International scoring system for evaluating prognosis in myelodys-plastic syndromes. Blood 1997; 89: 2079-2088.
2. Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A et al. The 2008 revision of the WHO classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 2009 (in press).
3. Boultwood J, Wainscoat JS. Gene silencing by DNA methylation in haematological malignancies. Br J Haematol 2007; 138: 3-11.
4. Hopfer O, Komor M, Koehler IS, Schulze M, Hoelzer D, Thiel E et al. DNA methylation profiling of myelodysplastic syndrome hematopoietic progenitor cells during in vitro lineage-specific differentiation. Exp Hematol 2007; 35: 712-723.
5. Hopfer O, Komor M, Koehler IS, Freitag C, Schulze M, Hoelzer D et al. Aberrant promotor methylation in MDS hematopoietic cells during in vitro lineage specific differentiation is differently associated with DNMT isoforms. Leuk Res 2009; 33: 434-442.
6. Fontenay M, Gyan E. Apoptotic pathways to death in myelodys-plastic syndromes. Haematologica 2008; 93: 1288-1292.
7. Gondek LP, Dunbar AJ, Szpurka H, McDevitt MA, Maciejewski JP. SNP array karyotyping allows for the detection of uniparental disomy and cryptic chromosomal abnormalities in MDS/MPD-U and MPD. PLoS One 2007; 2: e1225.
8. Wang L, Fidler C, Nadig N, Giagounidis A, Della Porta MG, Malcovati L et al. Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays. Haematologica 2008; 93: 994-1000.
9. Dunbar AJ, Gondek LP, O'Keefe CL, Makishima H, Rataul MS, Szpurka H et al. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homo-zygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res 2008; 68: 10349-10357.
10. Gondek LP, Tiu R, O'Keefe CL, Sekeres MA, Theil KS, Maciejewski JP. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood 2008; 111: 1534-1542.
11. Starczynowski DT, Vercauteren S, Telenius A, Sung S, Tohyama K, Brooks-Wilson A et al. High-resolution whole genome tiling path array CGH analysis of CD34+ cells from patients with low-risk myelodysplastic syndromes reveals cryptic copy number alterations and predicts overall and leukemia-free survival. Blood 2008; 112: 3412-3424.
12. Nowak D, Nolte F, Mossner M, Nowak V, Baldus CD, Hopfer O et al. Genome-wide DNA-mapping of CD34+ cells from patients with myelodysplastic syndrome using 500K SNP arrays identifies significant regions of deletion and uniparental disomy. Exp Hematol 2009; 37: 215-224.
13. Heinrichs S, Kulkarni RV, Bueso-Ramos CE, Levine RL, Loh ML, Li C et al. Accurate detection of uniparental disomy and microdele-tions by SNP array analysis in myelodysplastic syndromes with normal cytogenetics. Leukemia 2009 (in press).
14. Gelsi-Boyer V, Trouplin V, Adélaide J, Bonansea J, Cervera N, Carbuccia N et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol 2009; 145: 788-800.
15. Cloos PA, Christensen J, Agger K, Helin K. Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease. Genes Dev 2008; 22: 1115-1140.
16. van Haaften G, Dalgliesh GL, Davies H, Chen L, Bignell G, Greenman C et al. Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. Nat Genet 2009; 41: 521-523.
17. Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Masse A et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009; 360: 2289-2301.
18. 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: 1343-1345.
19. 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: 6403-6410.
20. 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.
21. Kosmider O, Gelsi-Boyer V, Cheok M, Grabar S, Della Valle V, Picard F et al. TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDS). Blood (in press).
22. Fisher CL, Randazzo F, Humphries RK, Brock HW. Characterization of Asxl1, a murine homolog of additional sex combs, and analysis of the Asx-like gene family. Gene 2006; 369: 109-118.
23. Baskind HA, Na L, Ma Q, Patel MP, Geenen DL, Wang QT. Functional conservation of asxl2, a murine homolog for the Drosophila enhancer of trithorax and polycomb group gene Asx. PLoS One 2009; 4: e4750.
24. Cho YS, Kim EJ, Park UH, Sin HS, Um SJ. Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor. J Biol Chem 2006; 281: 17588-17598.
25. Tahiliani M, Koh KP, Shen Y, Pastor WA, Bandukwala H, Brudno Y et al. Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. Science 2009; 324: 930-935.
26. 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: 144-147.
27. Gelsi-Boyer V, Trouplin V, Adelaide J, Aceto N, Remy V, Pinson S et al. Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes. BMC Cancer 2008; 8: 299.
28. Kuo MC, Liang DC, Huang CF, Shih YS, Wu JH, Lin TL et al. RUNX1 mutations are frequent in chronic myelomonocytic leukemia and mutations at the C-terminal region might predict acute myeloid leukemia transformation. Leukemia 2009 (in press).
29. Ebert BL. Deletion 5q in myelodysplastic syndrome: a paradigm for the study of hemizygous deletions in cancer. Leukemia 2009; 23: 1252-1256.
30. Murati A, Gervais C, Carbuccia N, Finetti P, Cervera N, Adelaide J et al. Genome profiling of acute myelomonocytic leukemia: alteration of the MYB locus in MYST3-linked cases. Leukemia 2009; 23: 85-94.
31. Pendino F, Nguyen E, Jonassen I, Dysvik B, Azouz A, Lanotte M et al. Functional involvement of RINF, retinoid-inducible nuclear factor (CXXC5), in normal and tumoral human myelopoiesis. Blood 2009; 113: 3172-3181.
32. Hu Z, Gomes I, Horrigan SK, Kravarusic J, Mar B, Arbieva Z et al. A novel nuclear protein, 5qNCA (LOC51780) is a candidate for the myeloid leukemia tumor suppressor gene on chromosome 5 band q31. Oncogene 2001; 20: 6946-6954.
33. Graubert TA, Payton MA, Shao J, Walgren RA, Monahan RS, Frater JL et al. Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. PLoS One 2009; 4: e4583.
34. Douet-Guilbert N, Lai JL, Basinko A, Gueganic N, Andrieux J, Pollet B et al. Fluorescence in situ hybridization characterization of ider(20q) in myelodysplastic syndrome. Br J Haematol 2008; 143: 716-720.
35. Trojer P, Li G, Sims III RJ, Vaquero A, Kalakonda N, Boccuni P et al. L3MBTL1, a histone-methylation-dependent chromatin lock. Cell 2007; 129: 915-928.
36. Agirre X, Vilas-Zornoza A, Jimenez-Velasco A, Martin-Subero JI, Cordeu L, Garate L et al. Epigenetic silencing of the tumor suppressor microRNA Hsa-miR-124a regulates CDK6 expression and confers a poor prognosis in acute lymphoblastic leukemia. Cancer Res 2009; 69: 4443-4453.
37. Garzon R, Liu S, Fabbri M, Liu Z, Heaphy CE, Callegari E et al. MicroRNA-29b induces global DNA hypomethylation and tumor suppressor gene re-expression in acute myeloid leukemia by targeting directly DNMT3A and 3B and indirectly DNMT1. Blood 2009; 113: 6411-6418.
38. Wong JC, Le Beau MM, Shannon K. Tumor suppressor gene inactivation in myeloid malignancies. Best Pract Res Clin Haematol 2008; 21: 601-614.
39. Boyer LA, Plath K, Zeitlinger J, Brambrink T, Medeiros LA, Lee TI et al. Polycomb complexes repress developmental regulators in murine embryonic stem cells. Nature 2006; 441: 349-353.
40. Lee TI, Jenner RG, Boyer LA, Guenther MG, Levine SS, Kumar RM et al. Control of developmental regulators by Polycomb in human embryonic stem cells. Cell 2006; 125: 301-313.
41. Pietersen AM, van Lohuizen M. Stem cell regulation by polycomb repressors: postponing commitment. Curr Opin Cell Biol 2008; 20: 201-207.
42. Muller J, Verrijzer P. Biochemical mechanisms of gene regulation by polycomb group protein complexes. Curr Opin Genet Dev 2009; 19: 150-158.
43. Mihara K, Takihara Y, Kimura A. Genetic and epigenetic alterations in myelodysplastic syndrome. Cytogenet Genome Res 2007; 118: 297-303.
44. Krivtsov AV, Twomey D, Feng Z, Stubbs MC, Wang Y, Faber J et al. Transformation from committed progenitor to leukaemia stem cell initiated by MLL-AF9. Nature 2006; 442: 818-822.
45. Krivtsov AV, Armstrong SA. MLL translocations, histone modifications and leukaemia stem-cell development. Nat Rev Cancer 2007; 7: 823-833.
46. Neff T, Armstrong SA. Chromatin maps, histone modifications and leukemia. Leukemia 2009; 23: 1243-1251.
47. Bienz M. The PHD finger, a nuclear protein-interaction domain. Trends Biochem Sci 2006; 31: 35-40.
48. Baker LA, Allis CD, Wang GG. PHD fingers in human diseases: disorders arising from misinterpreting epigenetic marks. Mutat Res 2008; 647: 3-12.
49. Agger K, Christensen J, Cloos PA, Helin K. The emerging functions of histone demethylases. Curr Opin Genet Dev 2008; 18: 159-168.
50. Agger K, Cloos PA, Christensen J, Pasini D, Rose S, Rappsilber J et al. UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development. Nature 2007; 449: 731-734.
51. Lan F, Bayliss PE, Rinn JL, Whetstine JR, Wang JK, Chen S et al. A histone H3 lysine 27 demethylase regulates animal posterior development. Nature 2007; 449: 689-694.
52. Sen GL, Webster DE, Barragan DI, Chang HY, Khavari PA. Control of differentiation in a self-renewing mammalian tissue by the histone demethylase JMJD3. Genes Dev 2008; 22: 1865-1870.
53. Jepsen K, Solum D, Zhou T, McEvilly RJ, Kim HJ, Glass CK et al. SMRT-mediated repression of an H3K27 demethylase in progression from neural stem cell to neuron. Nature 2007; 450: 415-419.
54. Schwartz YB, Pirrotta V. Polycomb complexes and epigenetic states. Curr Opin Cell Biol 2008; 20: 266-273.
55. Cozzio A, Passegue E, Ayton PM, Karsunky H, Cleary ML, Weissman IL. Similar MLL-associated leukemias arising from self-renewing stem cells and short-lived myeloid progenitors. Genes Dev 2003; 17: 3029-3035.
56. Krivtsov AV, Feng Z, Lemieux ME, Faber J, Vempati S, Sinha AU et al. H3K79 methylation profiles define murine and human MLL-AF4 leukemias. Cancer Cell 2008; 14: 355-368.
57. Guenther MG, Lawton LN, Rozovskaia T, Frampton GM, Levine SS, Volkert TL et al. Aberrant chromatin at genes encoding stem cell regulators in human mixed-lineage leukemia. Genes Dev 2008; 22: 3403-3408.
58. Wang GG, Song J, Wang Z, Dormann HL, Casadio F, Li H et al. Haematopoietic malignancies caused by dysregulation of a chromatin-binding PHD finger. Nature 2009; 459: 847-851.
59. Slape C, Lin YW, Hartung H, Zhang Z, Wolff L, Aplan PD. NUP98-HOX translocations lead to myelodysplastic syndrome in mice and men. J Natl Cancer Inst Monogr 2008; 39: 64-68.
60. Schessl C, Rawat VP, Cusan M, Deshpande A, Kohl TM, Rosten PM et al. The AML1-ETO fusion gene and the FLT3 length mutation collaborate in inducing acute leukemia in mice. J Clin Invest 2005; 115: 2159-2168.
61. Grisendi S, Bernardi R, Rossi M, Cheng K, Khandker L, Manova K et al. Role of nucleophosmin in embryonic development and tumorigenesis. Nature 2005; 437: 147-153.
62. Barradas M, Anderton E, Acosta JC, Li S, Banito A, Rodriguez-Niedenfuhr M et al. Histone demethylase JMJD3 contributes to epigenetic control of INK4a/ARF by oncogenic RAS. Genes Dev 2009; 23: 1177-1182.
63. Agger K, Cloos PA, Rudkjaer L, Williams K, Andersen G, Christensen J et al. The H3K27me3 demethylase JMJD3 contributes to the activation of the INK4A-ARF locus in response to onco-gene-and stress-induced senescence. Genes Dev 2009; 23: 1171-1176.
64. Falini B, Bolli N, Liso A, Martelli MP, Mannucci R, Pileri S et al. Altered nucleophosmin transport in acute myeloid leukaemia with mutated NPM1: molecular basis and clinical implications. Leukemia 2009; 23: 1731-1743.
65. Tefferi A, Pardanani A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J et al. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia 2009; 23: 905-911.
66. 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: 900-904.
67. Carbuccia N, Murati A, Trouplin V, Brecqueville M, Adelaide J, Rey J et al. Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia 2009; 23: 2183-2186.
68. Grand FH, Hidalgo-Curtis CE, Ernst T, Zoi K, Zoi C, McGuire C et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood 2009; 113: 6182-6192.