Mutation of epigenetic regulators TET2 and MLL3 in patients with HTLV-I-induced acute adult T-cell leukemia

Molecular Cancer

Volumn 15, Issue 1, 2016, Pages

  Yeh, Chien Hung ^a   Bai, Xue Tao ^a   Moles, Ramona ^a   Ratner, Lee ^b   Waldmann, Thomas A ^c   Toshiki, Watanabe ^d   Nicot, Christophe ^a  

^a UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d UNIVERSITY OF TOKYO   (Japan)

Author keywords

ATL; Epigenetic; HTLV I; Leukemia; LOH; MLL3; TET2

Indexed keywords

DNA METHYLTRANSFERASE 1; DNA METHYLTRANSFERASE 3A; DNA METHYLTRANSFERASE 3B; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; MIXED LINEAGE LEUKEMIA PROTEIN; DNA BINDING PROTEIN; MLL3 PROTEIN, HUMAN; ONCOPROTEIN; TET2 PROTEIN, HUMAN;

ACUTE LEUKEMIA; ARTICLE; ASXL1 GENE; CARCINOGENESIS; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNMT1 GENE; DNMT3A GENE; DNMT3B GENE; EED GENE; EPIGENETICS; EZH1 GENE; EZH2 GENE; GENE; GENE FREQUENCY; GENE FUNCTION; GENE INACTIVATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; HUMAN T-LYMPHOTROPIC VIRUS 1; IDH1 GENE; IDH2 GENE; MLL GENE; MLL3 GENE; MLL4 GENE; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; SUZ12 GENE; T CELL LEUKEMIA; TET1 GENE; TET2 GENE; TET3 GENE; ADULT; DNA MUTATIONAL ANALYSIS; GENETIC EPIGENESIS; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; POLYMERASE CHAIN REACTION; STANDARD; TRANSFORMED CELL LINE; VIROLOGY;

ADULT; BASE SEQUENCE; CELL LINE, TRANSFORMED; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EPIGENESIS, GENETIC; HUMAN T-LYMPHOTROPIC VIRUS 1; HUMANS; LEUKEMIA-LYMPHOMA, ADULT T-CELL; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS; REFERENCE STANDARDS;

EID: 84957943073     PISSN: None     EISSN: 14764598     Source Type: Journal    
DOI: 10.1186/s12943-016-0500-z     Document Type: Article

References (34)

1. Tsukasaki K, Tobinai K. Human T-cell lymphotropic virus type I-associated adult T-cell leukemia-lymphoma: new directions in clinical research. Clin Cancer Res. 2014;20:5217-25.
2. Ishitsuka K, Tamura K. Human T-cell leukaemia virus type I and adult T-cell leukaemia-lymphoma. Lancet Oncol. 2014;15:e517-26.
3. Tsukasaki K, Hermine O, Bazarbachi A, et al. Definition, prognostic factors, treatment, and response criteria of adult T-cell leukemia-lymphoma: a proposal from an international consensus meeting. J Clin Oncol. 2009;27:453-9.
4. Bazarbachi A, Suarez F, Fields P, Hermine O. How I treat adult T-cell leukemia/lymphoma. Blood. 2011;118:1736-45.
5. Shimoyama M. Diagnostic criteria and classification of clinical subtypes of adult T-cell leukaemia-lymphoma. A report from the Lymphoma Study Group (1984-87). Br J Haematol. 1991;79:428-37.
6. Katsuya H, Ishitsuka K, Utsunomiya A, et al. Treatment and survival among 1594 patients with ATL. Blood. 2015;126(24):2570-7. Epub 2015 Sep 11. doi: 10.1182/blood-2015-03-632489.
7. Chaib-Mezrag H, Lemacon D, Fontaine H, et al. Tax impairs DNA replication forks and increases DNA breaks in specific oncogenic genome regions. Mol Cancer. 2014;13:205.
8. Baydoun HH, Bai XT, Shelton S, Nicot C. HTLV-I tax increases genetic instability by inducing DNA double strand breaks during DNA replication and switching repair to NHEJ. PLoSOne. 2012;7:e42226.
9. Nicot C. Tumor suppressor inactivation in the pathogenesis of adult T-Cell leukemia. J Oncol. 2015;2015:183590.
10. Bellon M, Baydoun HH, Yao Y, Nicot C. HTLV-I Tax-dependent and -independent events associated with immortalization of human primary T lymphocytes. Blood. 2010;115:2441-8.
11. Migone TS, Cacalano NA, Taylor N, et al. Recruitment of SH2-containing protein tyrosine phosphatase SHP-1 to the interleukin 2 receptor, loss of SHP-1 expression in human T-lymphotropic virus type I-transformed T cells. Proc Natl Acad Sci U S A. 1998;95:3845-50.
12. Sato H, Oka T, Shinnou Y, et al. Multi-step aberrant CpG island hyper-methylation is associated with the progression of adult T-cell leukemia/lymphoma. Am J Pathol. 2010;176:402-15.
13. Nicot C. Current views in HTLV-I-associated adult T-cell leukemia/lymphoma. Am J Hematol. 2005;78:232-9.
14. Yang X, Karuturi RK, Sun F, et al. CDKN1C (p57) is a direct target of EZH2 and suppressed by multiple epigenetic mechanisms in breast cancer cells. PLoSOne. 2009;4:e5011.
15. Shen L, Toyota M, Kondo Y, et al. Aberrant DNA methylation of p57KIP2 identifies a cell-cycle regulatory pathway with prognostic impact in adult acute lymphocytic leukemia. Blood. 2003;101:4131-6.
16. Radulovic V, de HG, Klauke K. Polycomb-group proteins in hematopoietic stem cell regulation and hematopoietic neoplasms. Leukemia. 2013;27:523-33.
17. Ntziachristos P, Tsirigos A, Van VP, et al. Genetic inactivation of the polycomb repressive complex 2 in T cell acute lymphoblastic leukemia. Nat Med. 2012;18:298-301.
18. Pancewicz J, Taylor JM, Datta A, et al. Notch signaling contributes to proliferation and tumor formation of human T-cell leukemia virus type 1-associated adult T-cell leukemia. Proc Natl Acad Sci U S A. 2010;107:16619-24.
19. Sasaki D, Imaizumi Y, Hasegawa H, et al. Overexpression of Enhancer of zeste homolog 2 with trimethylation of lysine 27 on histone H3 in adult T-cell leukemia/lymphoma as a target for epigenetic therapy. Haematologica. 2011;96:712-9.
20. Yamagishi M, Nakano K, Miyake A, et al. Polycomb-mediated loss of miR-31 activates NIK-dependent NF-kappaB pathway in adult T cell leukemia and other cancers. Cancer Cell. 2012;21:121-35.
21. Devillier R, Mansat-De MV, Gelsi-Boyer V, et al. Role of ASXL1 and TP53 mutations in the molecular classification and prognosis of acute myeloid leukemias with myelodysplasia-related changes. Oncotarget. 2015;6:8388-96.
22. Abdel-Wahab O, Pardanani A, Patel J, et al. Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms. Leukemia. 2011;25:1200-2.
23. Walter MJ, Ding L, Shen D, et al. Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. Leukemia. 2011;25:1153-8.
24. Herz HM, Hu D, Shilatifard A. Enhancer malfunction in cancer. Mol Cell. 2014;53:859-66.
25. Li WD, Li QR, Xu SN, et al. Exome sequencing identifies an MLL3 gene germ line mutation in a pedigree of colorectal cancer and acute myeloid leukemia. Blood. 2013;121:1478-9.
26. Chen C, Liu Y, Rappaport AR, et al. MLL3 is a haploinsufficient 7q tumor suppressor in acute myeloid leukemia. Cancer Cell. 2014;25:652-65.
27. Watanabe Y, Castoro RJ, Kim HS, et al. Frequent alteration of MLL3 frameshift mutations in microsatellite deficient colorectal cancer. PLoSOne. 2011;6:e23320.
28. Shih AH, Abdel-Wahab O, Patel JP, Levine RL. The role of mutations in epigenetic regulators in myeloid malignancies. Nat Rev Cancer. 2012;12:599-612.
29. Figueroa ME, Abdel-Wahab O, Lu C, 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.
30. Nosaka K, Maeda M, Tamiya S, et al. Increasing methylation of the CDKN2A gene is associated with the progression of adult T-cell leukemia. Cancer Res. 2000;60:1043-8.
31. Rampal R, Alkalin A, Madzo J, et al. DNA hydroxymethylation profiling reveals that WT1 mutations result in loss of TET2 function in acute myeloid leukemia. Cell Rep. 2014;9:1841-55.
32. Bellon M, Nicot C. Central role of PI3K in transcriptional activation of hTERT in HTLV-I-infected cells. Blood. 2008;112:2946-55.
33. Lee J, Kim DH, Lee S, et al. A tumor suppressive coactivator complex of p53 containing ASC-2 and histone H3-lysine-4 methyltransferase MLL3 or its paralogue MLL4. Proc Natl Acad Sci U S A. 2009;106:8513-8.
34. Takemoto S, Trovato R, Cereseto A, et al. p53 stabilization and functional impairment in the absence of genetic mutation or the alteration of the p14(ARF)-MDM2 loop in ex vivo and cultured adult T-cell leukemia/lymphoma cells. Blood. 2000;95:3939-44.