Role of TET2 and ASXL1 Mutations in the Pathogenesis of Myeloproliferative Neoplasms

Hematology/Oncology Clinics of North America

Volumn 26, Issue 5, 2012, Pages 1053-1064

  Abdel Wahab, Omar ^a   Tefferi, Ayalew ^b   Levine, Ross L ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b MAYO CLINIC   (United States)

Author keywords

ASXL1; JAK2; Myelofibrosis; Myeloproliferative neoplasms; TET2

Indexed keywords

DIOXYGENASE; DROSOPHILA PROTEIN; JANUS KINASE 2; POLYCOMB GROUP PROTEIN; PROTEIN ADDITIONAL SEX COMBS LIKE 1; PROTEIN TEN ELEVEN TRANSLOCATION1; PROTEIN TEN ELEVEN TRANSLOCATION2; STAT PROTEIN; UNCLASSIFIED DRUG;

CANCER PATIENT; CD34 SELECTION; CELL COMPARTMENTALIZATION; CHROMOSOME 11; CHROMOSOME 4Q; EXTRAMEDULLARY HEMATOPOIESIS; GENE FUNCTION; GENETIC TRANSFORMATION; HEMATOPOIESIS; HEMATOPOIETIC CELL; HEMATOPOIETIC STEM CELL; HUMAN; KNOCKOUT MOUSE; LOSS OF FUNCTION MUTATION; MULTIGENE FAMILY; MYELOFIBROSIS; MYELOID PROGENITOR CELL; MYELOPROLIFERATIVE NEOPLASM; NONHUMAN; PATHOGENESIS; POLYCYTHEMIA VERA; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; THROMBOCYTOSIS; WILD TYPE;

DNA-BINDING PROTEINS; HUMANS; MUTATION; MYELOPROLIFERATIVE DISORDERS; PROGNOSIS; PROTO-ONCOGENE PROTEINS; REPRESSOR PROTEINS;

EID: 84866613593     PISSN: 08898588     EISSN: 15581977     Source Type: Journal    
DOI: 10.1016/j.hoc.2012.07.006     Document Type: Review

References (48)

1. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood 1951, 6(4):372-375.
2. Baxter E.J., Scott L.M., Campbell P.J., et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005, 365(9464):1054-1061.
3. James C., Ugo V., Le Couedic J.P., et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005, 434(7037):1144-1148.
4. Kralovics R., Passamonti F., Buser A.S., et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005, 352(17):1779-1790.
5. Levine R.L., Wadleigh M., Cools J., et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005, 7(4):387-397.
6. Scott L.M., Tong W., Levine R.L., et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 2007, 356(5):459-468.
7. Pikman Y., Lee B.H., Mercher T., et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006, 3(7):e270.
8. Pardanani A., Lasho T., Finke C., et al. LNK mutation studies in blast-phase myeloproliferative neoplasms, and in chronic-phase disease with TET2, IDH, JAK2 or MPL mutations. Leukemia 2010, 24(10):1713-1718.
9. Oh S.T., Simonds E.F., Jones C., et al. Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. Blood 2010, 116(6):988-992.
10. Kralovics R., Stockton D.W., Prchal J.T. Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease. Blood 2003, 102(10):3793-3796.
11. Beer P.A., Jones A.V., Bench A.J., et al. Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones. Br J Haematol 2009, 144(6):904-908.
12. Campbell P.J., Baxter E.J., Beer P.A., et al. Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation. Blood 2006, 108(10):3548-3555.
13. Theocharides A., Boissinot M., Girodon F., et al. Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Blood 2007, 110(1):375-379.
14. Abdel-Wahab O., Manshouri T., Patel J., et al. Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Res 2010, 70(2):447-452.
15. Langemeijer S.M., Kuiper R.P., Berends M., et al. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet 2009, 41(7):838-842.
16. Tefferi A., Pardanani A., Lim K.H., et al. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia 2009, 23(5):905-911.
17. Abdel-Wahab O., Mullally A., Hedvat C., et al. Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. Blood 2009, 114(1):144-147.
18. Couronne L., Lippert E., Andrieux J., et al. Analyses of TET2 mutations in post-myeloproliferative neoplasm acute myeloid leukemias. Leukemia 2010, 24(1):201-203.
19. Jankowska A.M., Szpurka H., Tiu R.V., et al. Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. Blood 2009, 113(25):6403-6410.
20. Tefferi A., Levine R.L., Lim K.H., et al. Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. Leukemia 2009, 23(5):900-904.
21. Tefferi A., Lim K.H., Abdel-Wahab O., et al. Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML. Leukemia 2009, 23(7):1343-1345.
22. Lorsbach R.B., Moore J., Mathew S., et al. TET1, a member of a novel protein family, is fused to MLL in acute myeloid leukemia containing the t(10;11)(q22;q23). Leukemia 2003, 17(3):637-641.
23. Tahiliani M., Koh K.P., Shen Y., et al. Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. Science 2009, 324(5929):930-935.
24. Iyer L.M., Tahiliani M., Rao A., et al. Prediction of novel families of enzymes involved in oxidative and other complex modifications of bases in nucleic acids. Cell Cycle 2009, 8(11):1698-1710.
25. Ito S., Shen L., Dai Q., et al. Tet proteins can convert 5-methylcytosine to 5-formylcytosine and 5-carboxylcytosine. Science 2011, 333(6047):13003.
26. Moran-Crusio K., Reavie L., Shih A., et al. Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation. Cancer Cell 2011, 20(1):11-24.
27. Quivoron C., Couronne L., Della Valle V., et al. TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis. Cancer Cell 2011, 20(1):25-38.
28. Li Z., Cai X., Cai C., et al. Deletion of Tet2 in mice leads to dysregulated hematopoietic stem cells and subsequent development of myeloid malignancies. Blood 2011, 118(17):4509-4518.
29. Ko M., Bandukwala H.S., An J., et al. Ten-Eleven-Translocation 2 (TET2) negatively regulates homeostasis and differentiation of hematopoietic stem cells in mice. Proc Natl Acad Sci U S A 2011, 108(35):14566-14571.
30. 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(6):788-800.
31. Carbuccia N., Murati A., Trouplin V., et al. Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia 2009, 23(11):2183-2186.
32. Carbuccia N., Trouplin V., Gelsi-Boyer V., et al. Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias. Leukemia 2010, 24(2):469-473.
33. Gaebler C., Stanzl-Tschegg S., Heinze G., et al. Fatigue strength of locking screws and prototypes used in small-diameter tibial nails: a biomechanical study. J Trauma 1999, 47(2):379-384.
34. Sinclair D.A., Milne T.A., Hodgson J.W., et al. The Additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes. Development 1998, 125(7):1207-1216.
35. 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(26):17588-17598.
36. Lee S.W., Cho Y.S., Na J.M., et al. ASXL1 represses retinoic acid receptor-mediated transcription through associating with HP1 and LSD1. J Biol Chem 2010, 285(1):18-29.
37. Park U.H., Yoon S.K., Park T., et al. Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor {gamma}. J Biol Chem 2011, 286(2):1354-1363.
38. Fisher C.L., Lee I., Bloyer S., et al. Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice. Dev Biol 2010, 337(1):9-15.
39. Fisher C.L., Pineault N., Brookes C., et al. Loss-of-function Additional sex combs-like1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. Blood 2010, 115(1):38-46.
40. Aravind L., Iyer L.M. The HARE-HTH and associated domains: novel modules in the coordination of epigenetic DNA and protein modifications. Cell Cycle 2012, 11(1):119-131.
41. Scheuermann J.C., de Ayala Alonso A.G., Oktaba K., et al. Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB. Nature 2010, 465(7295):243-247.
42. 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(7):1200-1202.
43. Brecqueville M., Rey J., Bertucci F., et al. Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms. Genes Chromosomes Cancer 2012, 51(8):743-755.
44. Delhommeau F., Dupont S., Della Valle V., et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009, 360(22):2289-2301.
45. Beer P.A., Delhommeau F., Lecouedic J.P., et al. Two routes to leukemic transformation following a JAK2 mutation-positive myeloproliferative neoplasm. Blood 2010, 115(14):2891-2900.
46. Metzeler K.H., Becker H., Maharry K., et al. ASXL1 mutations identify a high-risk subgroup of older patients with primary cytogenetically normal AML within the ELN Favorable genetic category. Blood 2011, 118(26):6920-6929.
47. Patel J.P., Gonen M., Figueroa M.E., et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 2012, 366(12):1079-1089.
48. Bejar R., Stevenson K., Abdel-Wahab O., et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med 2011, 364(26):2496-2506.