TET2, ASXL1 and EZH2 mutations in Chinese with myelodysplastic syndromes

Leukemia Research

Volumn 37, Issue 3, 2013, Pages 305-311

  Wang, Jieyu ^a   Ai, Xiaofei ^a   Gale, Robert Peter ^b   Xu, Zefeng ^a   Qin, Tiejun ^a   Fang, Liwei ^a   Zhang, Hongli ^a   Pan, Lijuan ^a   Hu, Naibo ^a   Zhang, Yue ^a   Xiao, Zhijian ^a  

^a INSTITUTE OF HEMATOLOGY AND BLOOD DISEASES HOSPITAL   (China)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

ASXL1 gene; EZH2 gene; Mutation; Myelodysplastic syndromes; TET2 gene

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADULT; AGED; ARTICLE; ASXL1 GENE; BURST FORMING UNIT E; CANCER RISK; CHINESE; CHROMOSOME ANALYSIS; COLONY FORMATION; COLONY FORMING UNIT E; COLONY FORMING UNIT GM; CONTROLLED STUDY; EZH2 GENE; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; INTERNATIONAL PROGNOSTIC SCORING SYSTEM; MAJOR CLINICAL STUDY; MALE; MALIGNANT TRANSFORMATION; MUTATIONAL ANALYSIS; MYELODYSPLASTIC SYNDROME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGNOSIS; SURVIVAL TIME; TET2 GENE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CELL TRANSFORMATION, NEOPLASTIC; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYELODYSPLASTIC SYNDROMES; POLYCOMB REPRESSIVE COMPLEX 2; PROTO-ONCOGENE PROTEINS; REPRESSOR PROTEINS; YOUNG ADULT;

EID: 84872938231     PISSN: 01452126     EISSN: 18735835     Source Type: Journal    
DOI: 10.1016/j.leukres.2012.10.004     Document Type: Article

References (24)

1. Tefferi A., Vardiman J.W. Myelodysplastic syndromes. N Eng J Med 2009, 361:1872-1885.
2. Nikoloski G., van der Reijden B.A., JANSEN J.H. Mutations in epigenetic regulators in myelodysplastic syndromes. Int J Hematol 2012, 95:8-16.
3. Langemeijer S.M., Kuiper R.P., Berends M., et al. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet 2009, 41:838-842.
4. Ko M., Huang Y., Jankowska A.M., et al. Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2. Nature 2010, 468:839-843.
5. Kim K., Choi J., Heo K., et al. Isolation and characterization of a novel H1.2 complex that acts as a repressor of p53-mediated transcription. J Biol Chem 2008, 283:9113-9126.
6. Cho Y.S., Kim E.J., Park U.H., et al. 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.
7. Fisher C.L., Pineault N., Brookes C., et al. Loss-of-function additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. Blood 2010, 115:38-46.
8. Simon J.A., Lange C.A. Roles of the EZH2 histone methyltransferase in cancer epigenetics. Mutat Res 2008, 647:21-29.
9. Ernst T., Chase A.J., Score J., et al. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat Genet 2010, 42:722-726.
10. Nikoloski G., Langemeijer S.M., Kuiper R.P. Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. Nat Genet 2010, 42:665-667.
11. Cui R., Gale R.P., Xu Z., et al. Clinical importance of SF3B1 mutations in Chinese with myelodysplastic syndromes with ring sideroblasts. Leuk Res 2012, 36:1428-1433.
12. Xu Z., Gale R.P., Zhang Y., et al. Unique features of primary myelofibrosis in Chinese. Blood 2012, 119:2469-2473.
13. Swerdlow S.H., Campo E., Harris N.L., et al. WHO classification of tumors of haematopoietic and lymphoid tissues 2008, IARC, Lyon. 4th ed.
14. Shaffer L.G., Slovak M.L., Campbell L.J. An International System for Human Cytogenetic Nomenclature. Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature 2009, S. Karger AG, Basel, Switzerland.
15. Greenberg P., Cox C., LeBeauM, Fenaux P., Morel P., Sanz G., et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 1997, 89:2079-2088.
16. Chun K., Hagemeijer A., Iqbal A., Slovak M.L. Implementation of standardized international karyotype scoring practices is needed to provide uniform and systematic evaluation for patients with myelodysplastic syndrome using IPSS criteria: an international working group on MDS cytogenetics study. Leuk Res 2010, 34:160-165.
17. Delhommeau F., Dupont S., Della Valle V., et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009, 360:2289-2301.
18. Smith A.E., Mohamedali A.M., Kulasekararaj A., et al. Next-generation sequencing of the TET2 gene in 355 MDS and CMML patients reveals low-abundance mutant clones with early origins, but indicates no definite prognostic value. Blood 2010, 116:3923-3932.
19. Kosmider O., Gelsi-Boyer V., Cheok M., et al. TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDS). Blood 2009, 114:3285-3291.
20. Gelsi-Boyer V., Trouplin V., Adelaide J., et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol 2009, 145:788-800.
21. Thol F., Friesen I., Damm F., et al. Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes. J Clin Oncol 2011, 29:2499-2506.
22. Bejar R., Stevenson K., Abdel-Wahab O., et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med 2011, 364:2496-2506.
23. Abdel-Wahab O., Kilpivaara O., Patel J., et al. The most commonly reported variant in ASXL1 (c.1934dupG; p.Gly646TrpfsX12) is not a somatic alteration. Leukemia 2010, 24:1656-1657.
24. Acquaviva C., Gelsi-Boyer V., Birnbaum D. Myelodysplastic syndromes: lost between two states?. Leukemia 2010, 24:1-5.