Mutations galore in myeloproliferative neoplasms: Would the real Spartacus please stand up

Leukemia

Volumn 25, Issue 7, 2011, Pages 1059-1063

  Tefferi, A ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BCR ABL PROTEIN; CBL PROTEIN; DNA METHYLTRANSFERASE 1; DNA METHYLTRANSFERASE 3A; DNA METHYLTRANSFERASE 3B; JANUS KINASE 2; TRANSCRIPTION FACTOR EZH2;

ACUTE GRANULOCYTIC LEUKEMIA; CANCER SURVIVAL; CHRONIC MYELOID LEUKEMIA; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC PREDISPOSITION; GENOMIC INSTABILITY; HUMAN; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MYELODYSPLASTIC SYNDROME; MYELOID METAPLASIA; MYELOPROLIFERATIVE DISORDER; MYELOPROLIFERATIVE NEOPLASM; NONHUMAN; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; POLYCYTHEMIA VERA; PRIORITY JOURNAL; REFRACTORY ANEMIA WITH EXCESS BLASTS; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTHEMIA; TRISOMY 8;

CELL TRANSFORMATION, NEOPLASTIC; CODON, NONSENSE; DISEASE PROGRESSION; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; DNA METHYLATION; FRAMESHIFT MUTATION; HUMANS; JANUS KINASE 2; LEUKEMIA, MYELOID, CHRONIC, ATYPICAL, BCR-ABL NEGATIVE; MOLECULAR TARGETED THERAPY; MUTATION; MUTATION, MISSENSE; MYELOPROLIFERATIVE DISORDERS; ONCOGENE PROTEINS, FUSION; PROTEIN STRUCTURE, TERTIARY; SIGNAL TRANSDUCTION; STAT TRANSCRIPTION FACTORS;

EID: 79960262592     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2011.92     Document Type: Review

References (64)

1. Melo JV. The diversity of BCR-ABL fusion proteins and their relationship to leukemia phenotype. Blood 1996; 88: 2375-2384. (Pubitemid 26327486)
2. Daley GQ, Van Etten RA, Baltimore D. Induction of chronic myelogenous leukemia in mice by the P210bcr/abl gene of the Philadelphia chromosome. Science 1990; 247: 824-830.
3. Druker BJ, Tamura S, Buchdunger E, Ohno S, Segal GM, Fanning S et al. Effects of a selective inhibitor of the Abl tyrosine kinase on the growth of Bcr-Abl positive cells. Nat Med 1996; 2: 561-566.
4. Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia 2010; 24: 1128-1138.
5. Abdel-Wahab O, Pardanani A, Rampal R, Lasho TL, Levine RL, Tefferi A. DNMT3A mutational analysis in primary myelofibrosis, chronic myelomonocytic leukemia and advanced phases of myeloproliferative neoplasms. Leukemia 2011, (in press).
6. Stegelmann F, Bullinger L, Schlenk RF, Paschka P, Griesshammer M, Blersch C et al. DNMT3A mutations in myeloproliferative neoplasms. Leukemia 2011, (in press).
7. Walter MJ, Ding L, Shen D, Shao J, Grillot M, McLellan M et al. Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. Leukemia 2011, (in press).
8. Okano M, Bell DW, Haber DA, Li E. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 1999; 99: 247-257. (Pubitemid 29519904)
9. Jones PA, Liang G. Rethinking how DNA methylation patterns are maintained. Nat Rev Genet 2009; 10: 805-811.
10. Maraschio P, Zuffardi O, Dalla Fior T, Tiepolo L. Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. J Med Genet 1988; 25: 173-180. (Pubitemid 18082764)
11. Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CM et al. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci USA 1999; 96: 14412-14417. (Pubitemid 30000664)
12. Yamashita Y, Yuan J, Suetake I, Suzuki H, Ishikawa Y, Choi YL et al. Array-based genomic resequencing of human leukemia. Oncogene 2010; 29: 3723-3731.
13. Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med 2010; 363: 2424-2433.
14. Ewalt M, Galili NG, Mumtaz M, Churchill M, Rivera S, Borot F et al. DNMT3a mutations in high-risk myelodysplastic syndrome parallel those found in acute myeloid leukemia. Blood Cancer J 2011; 1: e9.
15. Schaub FX, Looser R, Li S, Hao-Shen H, Lehmann T, Tichelli A et al. Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms. Blood 2010; 115: 2003-2007.
16. Kralovics R. Genetic complexity of myeloproliferative neoplasms. Leukemia 2008; 22: 1841-1848.
17. Lasho TL, Tefferi A, Finke C, Pardanani A. Clonal hierarchy and allelic mutation segregation in a myelofibrosis patient with two distinct LNK mutations. Leukemia 2011, (in press).
18. Theocharides A, Boissinot M, Girodon F, Garand R, Teo SS, Lippert E et al. Leukemic blasts in transformed JAK2-V617Fpositive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Blood 2007; 110: 375-379. (Pubitemid 47026857)
19. James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005; 434: 1144-1148. (Pubitemid 40663494)
20. Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M et al. MPLW515L Is a Novel Somatic Activating Mutation in Myelofibrosis with Myeloid Metaplasia. PLoS Med 2006; 3: e270.
21. Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 2007; 356: 459-468. (Pubitemid 46193073)
22. Oh ST, Simonds EF, Jones C, Hale MB, Goltsev Y, Gibbs Jr KD et al. Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. Blood 2010; 116: 988-992.
23. Bersenev A, Wu C, Balcerek J, Jing J, Kundu M, Blobel GA et al. Lnk constrains myeloproliferative diseases in mice. J Clin Invest 2010; 120: 2058-2069.
24. Pardanani A, Lasho TL, Finke C, Hanson CA, Tefferi A. Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. Leukemia 2007; 21: 1960-1963. (Pubitemid 47299970)
25. Vannucchi AM, Antonioli E, Guglielmelli P, Pardanani A, Tefferi A. Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal. Leukemia 2008; 22: 1299-1307.
26. Pardanani AD, , Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006; 108: 3472-3476.
27. Pardanani A, Lasho T, Finke C, Oh ST, Gotlib J, Tefferi A. LNK mutation studies in blast-phase myeloproliferative neoplasms, and in chronic-phase disease with TET2, IDH, JAK2 or MPL mutations. Leukemia 2010; 24: 1713-1718.
28. Pardanani A, Vannucchi AM, Passamonti F, Cervantes F, Barbui T, Tefferi A. JAK inhibitor therapy for myelofibrosis: critical assessment of value and limitations. Leukemia 2011; 25: 218-225.
29. Tefferi A, Lasho TL, Abdel-Wahab O, Guglielmelli P, Patel J, Caramazza D et al. IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic-or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis. Leukemia 2010; 24: 1302-1309.
30. Kosmider O, Gelsi-Boyer V, Slama L, Dreyfus F, Beyne-Rauzy O, Quesnel B et al. Mutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and MDS/myeloproliferative neoplasms. Leukemia 2010; 24: 1094-1096.
31. Gaudet F, Hodgson JG, Eden A, Jackson-Grusby L, Dausman J, Gray JW et al. Induction of tumors in mice by genomic hypomethylation. Science 2003; 300: 489-492. (Pubitemid 36444330)
32. Ko M, Huang Y, Jankowska AM, Pape UJ, Tahiliani M, Bandukwala HS et al. Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2. Nature 2010; 468: 839-843.
33. Martinez-Garcia E, Licht JD. Deregulation of H3K27 methylation in cancer. Nat Genet 2010; 42: 100-101.
34. Ernst T, Chase AJ, Score J, Hidalgo-Curtis CE, Bryant C, Jones AV et al. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat Genet 2010; 42: 722-726.
35. Figueroa ME, Abdel-Wahab O, Lu C, Ward PS, Patel J, Shih A et al. Leukemic IDH1 and IDH2 Mutations Result in a Hypermethylation Phenotype, Disrupt TET2 Function, and Impair Hematopoietic Differentiation. Cancer Cell 2010; 18: 553-567.
36. Ward PS, Patel J, Wise DR, Abdel-Wahab O, Bennett BD, Coller HA et al. The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. Cancer Cell 2010; 17: 225-234.
37. Dang L, White DW, Gross S, Bennett BD, Bittinger MA, Driggers EM et al. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 2010; 465: 966.
38. Rinaldi CR, Rinaldi P, Alagia A, Gemei M, Esposito N, Formiggini F et al. Preferential nuclear accumulation of JAK2V617F in CD34+ but not in granulocytic, megakaryocytic, or erythroid cells of patients with Philadelphia-negative myeloproliferative neoplasia. Blood 2010; 116: 6023-6026.
39. Dawson MA, Bannister AJ, Gottgens B, Foster SD, Bartke T, Green AR et al. JAK2 phosphorylates histone H3Y41 and excludes HP1alpha from chromatin. Nature 2009; 461: 819-822.
40. Tefferi A, Vaidya R, Caramazza D, Finke C, Lasho T, Pardanani A. Circulating Interleukin (IL)-8, IL-2R, IL-12, and IL-15 Levels Are Independently Prognostic in Primary Myelofibrosis: A Comprehensive Cytokine Profiling Study. J Clin Oncol 2011; 29: 1356-1363.
41. Verstovsek S, Kantarjian H, Mesa RA, Pardanani AD, Cortes-Franco J, Thomas DA et al. Safety and Efficacy of INCB018424, a JAK1 and JAK2 Inhibitor, in Myelofibrosis. N Engl J Med 2010; 363: 1117-1127.
42. Pardanani A, Gotlib JR, Jamieson C, Cortes JE, Talpaz M, Stone RM et al. Safety and Efficacy of TG101348, a Selective JAK2 Inhibitor, in Myelofibrosis. J Clin Oncol 2011; 29: 789-796.
43. Lasho TL, Pardanani A, Tefferi A. LNK mutations in JAK2 mutationnegative erythrocytosis. N Engl J Med 2010; 363: 1189-1190.
44. Gery S, Cao Q, Gueller S, Xing H, Tefferi A, Koeffler HP. Lnk inhibits myeloproliferative disorder-associated JAK2 mutant, JAK2V617F. J Leukoc Biol 2009; 85: 957-965.
45. 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.
46. Nibourel O, Kosmider O, Cheok M, Boissel N, Renneville A, Philippe N et al. Incidence and prognostic value of TET2 alterations in de novo acute myeloid leukemia achieving complete remission. Blood 2010; 116: 1132-1135.
47. 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.
48. Kohlmann A, Grossmann V, Klein HU, Schindela S, Weiss T, Kazak B et al. Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1. J Clin Oncol 2010; 28: 3858-3865.
49. 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.
50. Flach J, Dicker F, Schnittger S, Kohlmann A, Haferlach T, Haferlach C. Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis. Haematologica 2010; 95: 518-519.
51. 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.
52. Gelsi-Boyer V, Trouplin V, Adelaide 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.
53. 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.
54. Abdel-Wahab O, Pardanani A, Patel J, Lasho T, Heguy A, Levine R et al. Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms. ASH Annu Meet Abstr 2010; 116: 3070.
55. Chou WC, Huang HH, Hou HA, Chen CY, Tang JL, Yao M et al. Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations. Blood 2010; 116: 4086-4094.
56. Fisher CL, Pineault N, Brookes C, Helgason CD, Ohta H, Bodner 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.
57. Lee SW, Cho YS, Na JM, Park UH, Kang M, Kim EJ et al. ASXL1 represses retinoic acid receptor-mediated transcription through associating with HP1 and LSD1. J Biol Chem 2010; 285: 18-29.
58. 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.
59. Patel JP, Abdel-Wahab O, Gonen M, Figueroa ME, Fernandez HF, Sun Z et al. High-throughput mutational profiling in AML: mutational analysis of the ECOG E1900 trial. ASH Annu Meet Abstr 2010; 116: 851.
60. Nikoloski G, Langemeijer SM, Kuiper RP, Knops R, Massop M, Tonnissen ER et al. Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. Nat Genet 2010; 42: 665-667.
61. 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.
62. Sanada M, Suzuki T, Shih LY, Otsu M, Kato M, Yamazaki S et al. Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature 2009; 460: 904-908.
63. Jager R, Gisslinger H, Passamonti F, Rumi E, Berg T, Gisslinger B et al. Deletions of the transcription factor Ikaros in myeloproliferative neoplasms. Leukemia 2010; 24: 1290-1298.
64. Trageser D, Iacobucci I, Nahar R, Duy C, von Levetzow G, Klemm L et al. Pre-B cell receptor-mediated cell cycle arrest in Philadelphia chromosome-positive acute lymphoblastic leukemia requires IKAROS function. J Exp Med 2009; 206: 1739-1753.