Effect of mutation order on myeloproliferative neoplasms

New England Journal of Medicine

Volumn 372, Issue 7, 2015, Pages 601-612

  Ortmann, Christina A ^a,b,c   Kent, David G ^a,b   Nangalia, Jyoti ^a,b,c   Silber, Yvonne ^a,b   Wedge, David C ^d   Grinfeld, Jacob ^a,b,c   Baxter, E Joanna ^a,b,c   Massie, Charles E ^a,b   Papaemmanuil, Elli ^d   Menon, Suraj ^e   Godfrey, Anna L ^a,b,c   Dimitropoulou, Danai ^a,b   Guglielmelli, Paola ^g   Bellosillo, Beatriz ^h   Besses, Carles ⁱ   Döhner, Konstanze ^j   Harrison, Claire N ^f   Vassiliou, George S ^b,c,d   Vannucchi, Alessandro ^g   Campbell, Peter J ^b,c,d   Green, Anthony R ^a,b,c   more..

^a University of Cambridge   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e CANCER RESEARCH UK CAMBRIDGE RESEARCH INSTITUTE   (United Kingdom)

^f GUY S HOSPITAL   (United Kingdom)

^g UNIVERSITY OF FLORENCE   (Italy)

^h Department of Pathology ^*  (Spain)

ⁱ HOSPITAL DEL MAR   (Spain)

^j UNIVERSITY HOSPITAL ULM   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2; PHENYLALANINE; RUXOLITINIB; VALINE; DNA BINDING PROTEIN; JAK2 PROTEIN, HUMAN; ONCOPROTEIN; TET2 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; CELL MUTANT; CELL PROLIFERATION; CLONAL VARIATION; CONTROLLED STUDY; DRUG SENSITIVITY; GENE; GENE MUTATION; GENETIC TRANSCRIPTION; GENOTYPE; HEMATOPOIETIC CELL; HOMOZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; JAK2 GENE; MAJOR CLINICAL STUDY; MIDDLE AGED; MYELOFIBROSIS; MYELOPROLIFERATIVE NEOPLASM; NEXT GENERATION SEQUENCING; POLYCYTHEMIA VERA; STEM CELL; TET2 GENE; THROMBOCYTHEMIA; THROMBOSIS; UPREGULATION; GENE EXPRESSION; GENETICS; HEMATOPOIETIC STEM CELL; HOMOZYGOTE; MUTATION; MYELOPROLIFERATIVE DISORDER; NUCLEOTIDE SEQUENCE; ONSET AGE; PHYSIOLOGY;

AGE OF ONSET; CELL PROLIFERATION; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; GENE EXPRESSION; HEMATOPOIETIC STEM CELLS; HOMOZYGOTE; HUMANS; JANUS KINASE 2; MUTATION; MYELOPROLIFERATIVE DISORDERS; POLYCYTHEMIA VERA; PROTO-ONCOGENE PROTEINS; THROMBOCYTHEMIA, ESSENTIAL; THROMBOSIS; TRANSCRIPTION, GENETIC; UP-REGULATION;

EID: 84922693801     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1412098     Document Type: Article

References (38)

1. Greaves M, Maley CC. Clonal evolution in cancer. Nature 2012; 481: 306-13.
2. Yates LR, Campbell PJ. Evolution of the cancer genome. Nat Rev Genet 2012; 13:795-806.
3. Anderson K, Lutz C, van Delft FW, et al. Genetic variegation of clonal architecture and propagating cells in leukaemia. Nature 2011;469:356-61.
4. Ashworth A, Lord CJ, Reis-Filho JS. Genetic interactions in cancer progression and treatment. Cell 2011; 145: 30-8.
5. Hahn WC, Weinberg RA. Modelling the molecular circuitry of cancer. Nat Rev Cancer 2002;2:331-41.
6. Heyer J, Kwong LN, Lowe SW, Chin L. Non-germline genetically engineered mouse models for translational cancer research. Nat Rev Cancer 2010; 10: 470-80.
7. Kinzler KW, Vogelstein B. Lessons from hereditary colorectal cancer. Cell 1996;87:159-70.
8. Hartman JL I V, Garvik B, Hartwell L. Principles for the buffering of genetic variation. Science 2001;291:1001-4.
9. Junttila MR, Evan GI. p53-a Jack of all trades but master of none. Nat Rev Cancer 2009;9:821-9.
10. Chen E, Beer PA, Godfrey AL, et al. Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling. Cancer Cell 2010; 18: 524-35.
11. Doulatov S, Notta F, Eppert K, Nguyen LT, Ohashi PS, Dick JE. Revised map of the human progenitor hierarchy shows the origin of macrophages and dendritic cells in early lymphoid development. Nat Immunol 2010;11:585-93.
12. Petzer AL, Zandstra PW, Piret JM, Eaves CJ. Differential cytokine effects on primitive (CD34+CD38-) human hemato-poietic cells: novel responses to Flt3-ligand and thrombopoietin. J Exp Med 1996;183:2551-8.
13. Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloprolif-erative neoplasms with nonmutated JAK2. N Engl J Med 2013; 369: 2391-405.
14. Papaemmanuil E, Gerstung M, Mal-covati L, et al. Clinical and biological implications of driver mutations in myelo-dysplastic syndromes. Blood 2013; 122: 3616-27.
15. Forbes SA, Bindal N, Bamford S, et al. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res 2011; 39:D945-50.
16. Notta F, Doulatov S, Laurenti E, Po-eppl A, Jurisica I, Dick JE. Isolation of single human hematopoietic stem cells capable of long-term multilineage en-graftment. Science 2011;333:218-21.
17. Abbas T, Keaton MA, Dutta A. Ge-nomic instability in cancer. Cold Spring Harb Perspect Biol 2013; 5: a012914.
18. Carmena M, Wheelock M, Funabiki H, Earnshaw WC. The chromosomal passenger complex (CPC): from easy rider to the godfather of mitosis. Nat Rev Mol Cell Biol 2012;13:789-803.
19. Floyd S, Pines J, Lindon C. APC/C Cdh1 targets aurora kinase to control reorganization of the mitotic spindle at anaphase. Curr Biol 2008; 18: 1649-58.
20. Hu CM, Chang ZF. Mitotic control of dTTP pool: a necessity or coincidence? J Biomed Sci 2007; 14: 491-7.
21. Verstovsek S, Mesa RA, Gotlib J, et al. A double-blind, placebo-controlled trial of ruxolitinib for myelofibrosis. N Engl J Med 2012;366:799-807.
22. Kubovcakova L, Lundberg P, Gris-ouard J, et al. Differential effects of hy-droxyurea and INC424 on mutant allele burden and myeloproliferative phenotype in a JAK2-V617F polycythemia vera mouse model. Blood 2013;121:1188-99.
23. Delhommeau F, Dupont S, Della Valle V, et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009; 360: 2289-301.
24. Saint-Martin C, Leroy G, Delhom-meau F, et al. Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms. Blood 2009; 114:1628-32.
25. Lundberg P, Karow A, Nienhold R, et al. Clonal evolution and clinical correlates of somatic mutations in myeloprolifera-tive neoplasms. Blood 2014; 123: 2220-8.
26. Busque L, Patel JP, Figueroa ME, et al. Recurrent somatic TET2 mutations in normal elderly individuals with clonal he-matopoiesis. Nat Genet 2012; 44: 1179-81.
27. Ko M, Bandukwala HS, An J, et al. Ten-eleven-translocation 2 (TET2) negatively regulates homeostasis and differentiation of hematopoietic stem cells in mice. Proc Natl Acad Sci USA 2011; 108: 14566-71.
28. Moran-Crusio K, Reavie L, Shih A, et al. Tet2 loss leads to increased hemato-poietic stem cell self-renewal and myeloid transformation. Cancer Cell 2011; 20: 11-24.
29. Mullally A, Bruedigam C, Poveromo L, et al. Depletion of Jak2V617F myelopro-liferative neoplasm-propagating stem cells by interferon-α in a murine model of polycythemia vera. Blood 2013; 121: 3692-702.
30. Hasan S, Lacout C, Marty C, et al. JAK2V617F expression in mice amplifies early hematopoietic cells and gives them a competitive advantage that is hampered by IFNα. Blood 2013; 122: 1464-77.
31. Kent DG, Li J, Tanna H, et al. Self-renewal of single mouse hematopoietic stem cells is reduced by JAK2V617F without compromising progenitor cell expansion. PLoS Biol 2013; 11(6): e1001576.
32. Li J, Spensberger D, Ahn JS, et al. JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V617F-positive essential thrombocythemia. Blood 2010; 116:1528-38.
33. Csaszar E, Kirouac DC, Yu M, et al. Rapid expansion of human hematopoietic stem cells by automated control of inhibitory feedback signaling. Cell Stem Cell 2012;10:218-29.
34. Ito S, D'Alessio AC, Taranova OV, Hong K, Sowers LC, Zhang Y. Role of Tet proteins in 5mC to 5hmC conversion, ES-cell self-renewal and inner cell mass specification. Nature 2010;466:1129-33.
35. Mohr F, Döhner K, Buske C, Rawat VP. TET genes: new players in DNA de-methylation and important determinants for stemness. Exp Hematol 2011; 39: 272-81.
36. Chen Q, Chen Y, Bian C, Fujiki R, Yu X. TET2 promotes histone O-GlcNAcyla-tion during gene transcription. Nature 2013;493:561-4.
37. Shih AH, Abdel-Wahab O, Patel JP, Levine RL. The role of mutations in epi-genetic regulators in myeloid malignancies. Nat Rev Cancer 2012; 12: 599-612.
38. Baylin SB, Jones PA. A decade of exploring the cancer epigenome-biological and translational implications. Nat Rev Cancer 2011;11:726-34.