The critical role of chromosome translocations in human leukemias

Annual Review of Genetics

Volumn 32, Issue , 1998, Pages 495-519

  Rowley, Janet D ^a  

^a UNIVERSITY OF CHICAGO MEDICAL CENTER   (United States)

Author keywords

Chromosome translocations; Fusion genes; Human leukemia; Transcription factors

Indexed keywords

CANCER RISK; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION; DROSOPHILA; HUMAN; LEUKEMIA; LEUKEMOGENESIS; PRIORITY JOURNAL; REVIEW;

ANIMALS; ARTIFICIAL GENE FUSION; CHROMOSOMES, HUMAN, PAIR 11; CLONING, MOLECULAR; CORE BINDING FACTOR ALPHA 2 SUBUNIT; DNA-BINDING PROTEINS; DROSOPHILA; DROSOPHILA PROTEINS; GENES, INSECT; HUMANS; LEUKEMIA; MICE; MICE, KNOCKOUT; MYELOID-LYMPHOID LEUKEMIA PROTEIN; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENES; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 0032411481     PISSN: 00664197     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genet.32.1.495     Document Type: Review

References (95)

1. Adler HT, Nallaseth FS, Walter G, Tkachuk DC. 1997. HRX leukemia fusion proteins form a heterocomplex with the leukemia-associated protein SET and protein phosphatase 2A. J. Biol. Chem. 272: 28404-14
2. Aplan PD, Cherevinsky DS, Stanulla M, Burhans WC. 1996. Site specific DNA cleavage within the MLL breakpoint cluster region induced by topoisomerase II inhibitors. Blood 87:2649-58
3. Bannister AJ, Kouzarides T. 1996. The CBP co-activator is a histone acetyltransferase. Nature 384:641
4. Bernard OA, Berger R. 1995. Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations. Genes Chromosomes Cancer 13:75-85
5. Borrow J, Goddard AD, Sheer D, Solomon E. 1990. Molecular analysis of acute promyelocytic leukemia breakpoint cluster region on chromosome 17. Science 249:1577
6. Borrow J, Stanton VP Jr, Andresen JM, Becher R, Behm FG, et al. 1996. The translocation t(8;16) (p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein. Nat. Genet. 14:33
7. Breen TR, Harte PJ. 1993. Trithorax regulates multiple homeotic genes in the bithorax and antennapedia complexes and exerts different tissue-specific, parasegment-speciftc and promoter-specific effects on each. Development 117:119-34
8. Carapeti M, Aquiar RCT, Goldman JM, Cross NCP. 1998. A novel fusion between MOZ and the nuclear receptor coactivator TIF2 in acute myeloid leukemia. Blood 91:3127-33
9. Castilla LH, Wijmenga C, Wang Q, Stacy T, Speck NA, et al. 1996. Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11. Cell 87:687-96
10. Chen CS, Sorensen PH, Domer PH, Reaman GH, Korsmeyer SJ, et al. 1993. Molecular rearrangements on chromosome 11q23 predominate in infant acute lymphoblastic leukemia and are associated with specific biologic variables and poor outcome. Blood 81:2386
11. Chen ZX, Xue YQ, Zhang R, Tao RF, Xia XM, et al. 1991. A clinical and experimental study on all-trans retinoic acid-treated acute promyelocytic leukemia patients. Blood 78:1413
12. Chinwalla V, Jane EP, Harte PJ. The Drosophila trithorax protein binds to specific chromosomal sites and is co-localized with polycomb at many sites. EMBO J. 14:2056-65
13. Cimino G, Rapanotti MC, Biondi A, Elia L, Lo Coco F, et al. 1997. Infant acute leukemias show the same biased distribution of ALL1 gene breaks as topoisomerase II related secondary acute leukemias. Cancer Res. 57:2879-83
14. Corral J, Lavenir I, Impey H, Warran AJ, Forster A, et al. 1996. An MLL-AF9 fusion gene made by homologous recombination causes acute leukemia in chimeric mice: a method to create fusion oncogenes. Cell 85:853-61
15. Cui X, DeVivo I, Slany R, Miyamoto A, Firestein R, et al. 1998. Association of SET domain and myotubularin-related proteins modulates growth control. Nat. Genet. 18:331-37
16. Dalla-Favera R, Bregni M, Erikson J, Patterson D, Gallo RC, et al. 1982. Human c-myc one gene is located on the region of chromosome 8 that is translocated in Burkitt lymphomacells. Proc. Natl. Acad. Sci. USA 79:7824
17. de The H, Chomienne C, Lanotte M, Degos L, Dejean A. 1990. The t(15;17) translocation of acute promyelocytic leukaemia fuses the retinoic acid receptor alpha gene to a novel transcribed locus. Nature 347:558
18. Djabali M, Selleri L, Parry P, Bower M, Young BD, et al. 1992. A trithorax-like gene is interrupted by chromosome 11q23 translocations in acute leukemias. Nat. Genet. 2:113-18
19. Domer PH, Head DR, Renganathan N, Raimondi SC, Yange E, et al. 1995. Molecular analysis of 13 cases of MLL/ 11q23 secondary acute leukemia and identification of topoisomerase II consensus-binding sequences near the chromosomal breakpoint of a secondary leukemia with the t(4;11). Leukemia 9:1305-12
20. Downing JR, Look AT. 1995. MLL fusion genes in the 11q23 acute leukemias. In Leukemia: Advances in Research and Treatment, ed. EJ Freireich, H Kantarjian, pp. 73-92. Boston: Kluwer
21. Fears S, Gavin M, Zhang D-E, Hetherington C, Ben-David Y, et al. 1497. Functional characterization of ETV6 and ETV6/CBFA2 in the regulation of the MSCFR proximal promoter. Proc. Natl. Acad. Sci. USA 94:1949-54
22. Felix CA, Winick NJ, Negrini M, Bowman WP, Croce CM, et al. 1993. Common region of ALL-1 gene disrupted in epipodophyllotoxin-related secondary acute myeloid leukemia. Cancer Res. 53:2954
23. Fidanza V, Melotti P, Yano T, Nakamura T, Bradley A, et al. 1996. Double knockout of the ALL-1 gene blocks hematopoietic differentiation in vitro. Cancer Res. 56:1179-83
24. Gao J, Erickson P, Gardiner K, Le Beau MM, Diaz MO, et al. 1991. Isolation of a yeast artificial chromosome spanning the 8;21 translocation breakpoint. t(8;21) (q22;q22.3), in acute myelogenous leukemia. Proc. Natl. Acad. Sci. USA 88:4882-86
25. Gill-Super HJ, McCabe NR, Thirman MJ, Larson RA, Le Beau MM, et al 1993. Rearrangements of the MLL gene in therapy-related acute myeloid leukemia in patients previously treated with agents targeting DNA-topoisomerase II. Blood 82:3705-11
26. Golub TR, Barker GF, Bohlander SK, Hiebert SW, Ward DC, et al. 1995. Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia. Proc. Natl. Acad. Sci. USA 92: 4917-21
27. Grignani F, DeMatteis S, Nervi C, Tomassoni L, Gelmetti V, et al. 1998. Fusion proteins of the retinoic acid receptor-α recruit histone deacetylase in promyeloctyic leukemia. Nature 815-88
28. Gu Y, Nakamura T, Alder H, Prasad R, Canaani O, et al. 1992. The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to drosophila trithorax, to the AF-4 gene. Cell 71:701
29. Guidez F, Ivins S, Zhu J, Soderstrom M, Waxman S, et al. 1998. Reduced retinoic acid-sensitivities of nuclear receptor corepressor binding to PML-and PLZF-RAR α underlie molecular pathogenesis and treatment of acute promyelocytic leukemia. Blood 91:2634-0
30. Heerema NA, Arthur DC, Sather H, Albo V. Feusner J, et al. 1994. Cytogenetic features of infants less than 12 months of age at diagnosis of acute lymphoblastic leukemia: impact of the 11q23 breakpoint on outcome: a report of the Children's Cancer Group. Blood 83:2274
31. Heim S, Mitelman F. 1995. Cancer Cytogenetics. New York: Wiley-Liss. 2nd ed.
32. Heisterkamp N, Stephenson JR, Groffen J, Hansen PF, deKlein A, et al. 1983. Localization of the c-abl oncogene adjacent to a translocation breakpoint in chronic myelocytic leukaemia. Nature 306:239
33. Hess JL, You BD, Li B, Hanson R, Korsmeyer SJ. 1997. Defects in yolk sac hematopoiesis in Mll mice embryos. Blood 90: 1799-806
34. Hunger SP, Tkachuk DC, Amylon MD, Link MP, Carroll AJ, et al. 1993. HRX involvement in de novo and secondary leukemias with diverse chromosome 11q23 abnormalities. Blood 81:3197-203
35. Ida K, Kitabayashi I, Taki T, Taniwaki M, Noro K, et al. 1997. Adenoviral EIA-associated protein p300 is involved in acute myeloid leukemia with t(11;22) (q23;q13). Blood 90:4699-704
36. Kamb A, Gruis NA, Weaver-Feldhaus J, Liu Q, 1994. A cell cycle regulator potentially involved in genesis of many tumor types. Science 264:436-40
37. Kaneko Y, Maseki N, Takasaki M, Sakurai T, Hayashi Y, et al. 1986. Clinical and hematologic characteristics in acute leukemia with 11q23 translocations. Blood 67:484
38. Lin RJ, Nagy L, Inove S, Shao W, Miller WH, et al. 1998. Role of the histone diacetylase complex in acute promyelocytic leukemia. Nature 391:811-14
39. Liu P, Tarle SA, Hajra A, Claxton DF, Marlton P, et al. 1993. Fusion between transcription factor CBFβ/PEBP2β and a myosin heavy chain in acute myeloid leukemia. Science 261:1041
40. Deleted in proof
41. Longo L, Pandolfi PP, Biondi A, Rambaldi A, Mencarelli A, et al. 1990. Rearrangements and aberrant expression of the retinoic acid receptor alpha gene in acute promyelocytic leukemias. J. Exp. Med. 172:1571
42. Look TA. 1997. Oncogenic transcription factors in the human acute leukemias. Science 278:1059-64
43. Mazo AM, Huang DH, Mozer BA, Dawid IB. 1990. The trithorax gene, transacting regulator of the bithorax-complex in Drosophila, encodes a protein with zinc-binding domains. Proc. Natl. Acad. Sci. USA 87:2112
44. Meyers S, Downing JR, Heibert SW. 1993. Identification of AML-1 and the (8;21) translocation protein (AML-1/ETO) as sequence specific DNA binding proteins: The runt homology domain is required for DNA binding and protein-protein interactions. Mol. Cell. Biol. 13:6336
45. Mitelman F, Mertens F, Johansson B. 1997. A breakpoint map of recurrent chromosomal rearrangements in human neoplasia. Nat. Genet. (special issue) 15:417-74
46. Miyoshi H, Shimizu K, Kozu T, Maseki N, Kaneko Y, et al. 1991. t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1. Proc. Natl. Acad. Sci. USA 88:10431
47. Nakamura T, Alder H, Gu Y, Prasad R, Canaani O, et al. 1993. Genes on chromosomes 4, 9 and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs. Proc. Natl. Acad. Sci. USA 90:4631
48. Negrini M, Felix CA, Martin C, Lange BJ, Nakamura T, et al. 1993. Potential topoisomerase II DNA-binding sites at the breakpoints of a t(9;11) chromosome translocation in acute myeloid leukemia. Cancer Res. 53:4489
49. Nowell P, Hungerford D. 1960. A minute chromosome in human granulocytic leukemia. Science 132:1497
50. Nucifora G, Rowley JD. 1995. AML1 and the 8;21 and 3;21 translocations in acute and chronic myeloid leukemia. Blood 86:1-14
51. Ogryzko VV, Schiltz RL, Russanova V, Howard BH, Nakatani Y. 1996. The transcriptional co-activators p300 and CBP are histone acetyltransferases. Cell 87:953
52. Okuda T, Cai Z, Yang S, Lenny N, Lyu C-J, et al. 1998. Expression of a knockedin AML1-ETO leukemia gene inhibits the establishment of normal definitive hematopoiesis and directly generates dysplastic hematopoietic progenitors. Blood 91:3134-43
53. Pedersen-Bjergaard J, Rowley JD. 1994. The balanced and the unbalanced chromosome aberrations of acute myeloid leukemia may develop in different ways and may contribute differently to malignant transformation. Blood 83:2780-86
54. Pui C, Ribeiro RC, Hancock ML, Rivera GK, Evans WE, et al. 1991. Acute myeloid leukemia in children treated with epipodophyllotoxins for acute lymphoblastic leukemia. N. Engl. J. Med. 325: 1682-87
55. Rabbitts TH. 1991. Translocations, master genes, and differences between the origins of acute and chronic leukemias. Cell 67:641-44
56. Rabbitts TH. 1994. Chromosomal translocations in human cancer. Nature 372: 143
57. Romana SP, Le Coniat M, Berger R. 1994. t(12;21): a new recurrent translocation in acute lymphoblastic leukemia. Genes Chromosomes Cancer 9:186
58. Romana SP, Mauchauffe M, Le Coniat M, Chumakov I, Le Paslier D, et al. 1995. The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion. Blood 85:3662
59. Romana SP, Poirel H, Leconiat M, Flexor MA, Mauchauffe M, et al. 1995. High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia. Blood 86:4263
60. Roulston D, Espinosa R III, Nucifora G, Larson RA, Le Beau MM, et al. 1998. CBFA2(AML1) translocations with novel partner chromosomes: association with prior therapy. Blood. In press
61. Rowley JD. 1973. A new consistent chromosomal abnormality in chronic myelogenous leukemia. Nature 243:290-93
62. Rowley JD. 1973. Identification of a translocation with quinacrine fluorescence in a patient with acute leukemia. Ann. Genet. 16:109-12
63. Rowley JD. 1975. Nonrandom chromosomal abnormalities in hematologic disorders of man. Proc. Natl. Acad. Sci. USA 72:152-56
64. Rowley JD. 1984. The biological implications of consistent chromosome rearrangements. Cancer Res. 44:3159-65
65. Rowley JD. 1990. Molecular cytogenetics: Rosetta Stone for understanding cancer. Clowes Award Lecture. Cancer Res. 50:3816-25
66. Rowley JD. 1993. Rearrangements involving chromosome band 11q23 in acute leukemia. Semin. Cancer Biol. 4:377-85
67. Rowley JD, Diaz MO, Espinosa III R, Patel YD, van Melle E, et al. 1990. Mapping chromosome band 11q23 in human acute leukemia with biotinylated probes: identification of 11q23 translocation breakpoints with a yeast artificial chromosome. Proc. Natl. Acad. Sci. USA 87:9358-62
68. Rowley JD, Golomb HM, Dougherty C. 1977. 15/17 translocations, a consistent chromosomal change in acute promyelocytic leukemia. Lancet I:549-50
69. Rowley JD, Reshmi S, Sobulo O, Musvee T, Anastasi J, et al. 1997. All patients with the t(11;16) (q23;p13.3) that involves MLL and CBP have treatment-related hematologic disorders. Blood 90:535-41
70. Rozenblatt-Rosen O, Rozovskaia T, Burakov D, Sedkov Y, Tillib S, et al. 1998. The C-terminal SET domains of ALL-1 and TRITHORAX interact with the INII and SNRI proteins, components of the SW1/SNF complex. Proc. Natl. Acad. Sci. USA 95:4152-57
71. Sandberg AA. 1990. The Chromosomes in Human Cancer and Leukemia. New York: Elsevier. 2nd ed.
72. Sato Y, Rowley JD. 1998. Chromosome abnormalities in hematologic malignant diseases. In Hemutology of Infancy and Childhood, ed. DG Nathan, SH Orkin. 2:1147-82. Philadelphia: WB Saunders. 5th ed.
73. Schichman S, Canaani E, Croce CM. 1995. Self fusion of the ALL-1 gene: a new genetic mechanism for acute leukemia. JAMA 273:571-76
74. Schrock E, duManoir S, Veldman T, Schoell B, Wienberg J, et al. 1996. Multicolor spectral karyotyping of human chromosomes. Science 273:494-97
75. Shilatifard A, Lane WAS, Jackson KW, Conaway RC, Conaway JW. 1996. An RNA polymerase II elongation factor encoded by the human ELL gene. Science 271:1873
76. Shurtleff SA, Buijs A, Behm FG, Rubnitz JE, Raimondi SC, et al. 1995. TEL/AML1 fusion resulting from a cryptic t(12;21) is the most common genetic lesion in pediatric ALL and defines a subgroup of patients with an excellent prognosis. Leukemia 9:1985
77. Speicher MR, Ballard SG, Ward DC. 1996. Karyotyping human chromosomes by combinatorial multicolor FISH. Nat. Genet. 2:368-75
78. Sobulo OM, Borrow J, Tomek R, Reshmi S, Harden A, et al. 1997. MLL is fused to CBP, a histone acetyltransferase, in therapy-related acute myeloid leukemia with a t(11;16) (q23;p13.3). Proc. Natl. Acad. Sci. USA 94:8732-37
79. Sorensen PHB, Chen CS, Smith OF, Arthur DC, Bernstein DC, et al. 1994. Molecular rearrangements of chromosome band 11q23 are common in infant AML and are strongly correlated with monocytic or myelomonocytic phenotypes. J. Clin. Invest. 93:429-37
80. Speck NA, Stacy T. 1995. A new transcription factor family associated with human leukemias. Crit. Rev. Eukaryot. Gene Expr. 5:337
81. Spitzner JR, Muller MA. 1998. A consensus sequence for cleavage by vertebrate DNA topoisomerase II. Nucleic Acids Res. 16:5533-56
82. Strissel-Broeker PL, Gill-Super HJ, Thirman MJ, Pomykala H, Yonebayashi Y, et al. 1996. Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase 11 consensus binding sites. Blood 87:1912-22
83. Strissel PS, Strick R, Rowley JD, Zeleznik-Le N. 1998. An in vivo topoisomerase II cleavage site and a DNase 1 hypersensitive site co-localize near exon 9 in the MLL breakpoint cluster region. Blood. In press
84. Taub R, Kirsch I, Morton C, Lenoir G, Swan D, et al. 1982. Translocation of the C-myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmacytoma cell. Proc. Natl. Acad. Sci. USA 79:7837
85. Tenen DG, Hromas R, Licht JD, Zhang D-E. 1997. Transcription factors, normal myeloid development, and leukemia. Blood 90:489-519
86. Thirman MJ, Gill HJ, Burnett RC, Mbangkollo D, McCabe NR, et al. 1993. Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations. N. Engl. J. Med. 329:909-14
87. Thirman MJ, Levitan DA, Kobayashi H, Simon MC, Rowley JD. 1994. Cloning of ELL, a novel gene that fuses to MLL in a t(11;19) (q23;p13.1) in acute myeloid leukemia. Proc. Natl. Acad. Sci. USA 91: 12110-14
88. Tkachuk DC, Kohler S, Cleary ML. 1992. Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias. Cell 691-700
89. Veldman T, Vignon C, Schrock E, Rowley JD, Ried T. 1997 Hidden chromosome abnormalities in hematological malignancies detected by multicolor spectral karyotyping. Nat. Genet. 15:406-10
90. Wang Q, Stacy T, Binder M, Marin-Padilla M, Sharpe AH, et al. 1996. Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis. Proc. Natl. Acad. Sci. USA 93:3444
91. Yang E, Korsmeyer SJ. 1996 Molecular thanatopsis: a discourse on the BCL2 family and cell death. Blood 88:386
92. Yergeau DA, Hetherington CJ, Wang Q, Zhang P, Sharpe AH, et al. 1997. Embryonic lethality and improvement of hematopoiesis in mice heterozygous for an AML1-ETO fusion gene. Nat. Genet. 15:303-6
93. Yu BD, Hess JL, Horning SE, Brown GA, Korsmeyer SJ. 1995. Altered Hox expression and segmental identity in Mil-mutant mice. Nature 378:505
94. Zeleznik-Le NJ, Harden AM, Rowley JD. 1994. 11q23 translocations split the AT-hook cruciform DNA binding region and the transcriptional repression domain from the activation domain of the mixed lineage leukemia (MLL) gene. Proc. Natl. Acad. Sci. USA 91:10610-14
95. Ziemin-van der Poel S, McCabe NR, Gill HJ, Espinosa R III, Patel YD, et al. 1991. Identification of a gene (MLL,) which spans the breakpoint in 11q23 translocations associated with human leukemias. Proc. Natl. Acad. Sci. USA 88:10735-39