ALL1 gene alterations in acute leukemia: Biological and clinical aspects

Haematologica

Volumn 83, Issue 4, 1998, Pages 350-357

  Cimino, Giuseppe ^a   Rapanotti, Maria Cristina ^a   Sprovieri, Teresa ^a   Elia, Loredana ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Acute leukemia; ALL1; Minimal residual disease; Molecular diagnosis; Oncogene

Indexed keywords

BCR ABL PROTEIN; GYRASE INHIBITOR; TRANSCRIPTION FACTOR;

ACUTE LEUKEMIA; CHROMOSOME 11Q; CHROMOSOME 4; CHROMOSOME TRANSLOCATION 11; CLINICAL FEATURE; GENE REARRANGEMENT; GENETIC RECOMBINATION; HUMAN; MINIMAL RESIDUAL DISEASE; MOLECULAR GENETICS; NONHUMAN; PROGNOSIS; REVIEW; SEQUENCE HOMOLOGY;

ACUTE DISEASE; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 9; DNA-BINDING PROTEINS; HUMANS; LEUKEMIA; MYELOID-LYMPHOID LEUKEMIA PROTEIN; PROTO-ONCOGENES; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC; ZINC FINGERS;

EID: 0031958621     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (65)

1. Haluska FG, Tsujmoto Y, Croce CM. Oncogene activation by chromosomal translocation in human malignancy. Annu Revue Genet 1987; 21:32-45.
2. Rabbits TH. Chromosomal translocations in human cancer. Nature 1994; 372:143-9.
3. Cline MJ. The molecular basis of leukemia. N Engl J Med 1994; 330:328-36.
4. Sawyers CL Molecular genetics of acute leukemia. Lancet 1997; 349:196-200.
5. Greaves MF. Aetiology of acute leukemia. Lancet 1997; 349:344-9.
6. Pandolfi PP, Grignani F, Alcalay M, et al. Structure and origin of the acute promyelocytic leukemia myl/RARα cDNA and characterization of its retinoic binding and transactivation properties. Oncogene 1991; 6:1285-92.
7. Miyoshi H, Shirmirne K, Kozu T, Maseki N, Kaneko Y, Ohki M. The t(8;21) breakpoints on chromosome 21 in acute leukemia cluster within a limited region of a novel gene AML1. Proc Natl Acad Sci USA 1991; 88: 1043-1-7.
8. Lo Coco F, Pisegna S, Diverio D. The AML1 gene: a transcription factor involved in the pathogenesis of myeloid and lymphoid leukemias. Haematologica 1997; 82:364-70.
9. Liu P, Tarlè SA, Hajra A, et al. Fusion between transcription factor CBF-β/PEBP2β and myosin heavy chain in acute myeioid leukemia. Science 1993; 261: 1041-4.
10. Nourse J, Mellentin JD, Galin N, et al. Chromosomal translocation t(1,19) results in synthesis of a homeobox fusion mRNA that codes for a potential chimeric transcription factor. Cell 1990; 60:535-45.
11. Cimino G, Moir DT, Canaani O, et al. Cloning of ALL-1, the locus involved in leukemias with the t(4;11) (q21;q23), and t(9;11)(p22;q23), t(11;19) (q23;pl3) chromosome translocations. Cancer Res 1991; 51: 6712-4.
12. Gu Y, Nakamura T, Alder H, et al. The t(4;11) chromosome translocation of human acute leukemias involves fusion between the ALL-1 gene encoding a protein with homologies to Drosophila trithorax gene and a gene AF-4 on chromosome 4. Cell 1992; 71: 701-8.
13. Ziemen-van der Poel S, McCabe, Gill HJ, et al. Identification of a gene, MLL, that spans the breakpoint in 11q23 translocations associated with human leukemia. Proc Natl Acad Sci USA, 1991; 88:10735-9.
14. Tkachuk DC, Kohler S, Clearly ML. Involvement of a homologue of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias. Cell 1992; 71:691-700.
15. Djabali M, Selleri L, Parry P, Bower M, Young BD, Evans GGA. Trithorax gene is interrupted by chromosome 11q23 translocations in acute leukemias. Nat Genet 1992; 2:113-8.
16. Lo Coco F, Mandelli F, Breccia M, et al. Southern-blot analysis of ALL-1 rearrangements at chromosome 11q23 in acute leukemia. Cancer Res 1993; 53:3800-3.
17. Thirmann MJ, Gill HJ, Burnett RC, et al. Rearrangement of the MLL gene in acute lymphoblastic and myeloid leukemia with 11q23 chromosomal translocations. N Engl J Med 1994; 329:909-14.
18. Canaani E, Nowell PC, Croce CM. Molecular genetic of 11q23 chromosome translocations. Adv Cancer Res 1995; 66:213-34.
19. Greaves MF. Infants leukaemia biology, aetiology and treatment. Leukemia 1996; 10:372-7.
20. Rasio D, Schichman SA, Negrini M, Canaani E, Croce CM. Complete exons structure of the ALLI gene. Cancer Res 1996; 56:1766-9.
21. Löchner NK, Siegler G, Greil J, Beck JD, Fey GH, Marschalek R. Exon/intron structure of the human ALL1(MLL) gene involved in translocations to chromosomal region 11q23 and acute leukemias. Br J Haematol 1996; 93:966-72.
22. Ingham PW. Genetic control of the spatial pattern of selector gene expression in Drosophila. Cold Spring Harbor Symposium Quant Biol 1986; 50:201-8.
23. Wedeen C, Harding K, Levine M. Spatial regulation of antennapoedia and bithorax gene expression of the Polycomb locus in Drosophila. Cell 1996; 44:739-48.
24. Mckeon J, Brock HW. Interactions of the polycomb group of genes with the homeotic loci of Drosophila. Roux's Arch Dev Biol 1991; 199:387-96.
25. Nakamura T, Alder H, Gu Y, et al. Genes on chromosome 4, chromosome 9, and chromosome 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs. Proc Natl Acad Sci USA 1993; 90:4631-5.
26. Morrissey J, Tkachuk DC, Milatovich A, Francke U, Link M, Clearly ML. A serineproline rich protein is fused to HRX in t(4; 11) acute leukemias. Blood 1993; 81:1124-31.
27. Prasad R, Gu Y, Alder H, et al. Cloning of the ALL1 fusion partner, the AF6 gene, involved in acute leukemias with t(6;11) chromosome translocation. Cancer Res 1993; 53:5624-8.
28. Thirman MJ, Levitan DA, Kobayashi L, Simon MC, Rowley J. Cloning of ELL gene that fuses to MLL in a t(11;19) (q23; p13.1) in acute myeloid leukemia. Proc Natl Acad Sci USA 1994; 91:12110-4.
29. Prasad R, Leshkowitz D, Gu Y, et al. Leucine zipper dimerization motifs encoded by the AF 17 gene fused to ALL1 (MLL) in acute leukemias. Proc Natl Acad Sci USA 1994; 91:8107-11.
30. Corral J, Forster A, Thompson S, et al. Acute leukemias of different lineage have similar MLL gene fusion encoding related chimeric proteins resulting from chromosomal translocation. Proc Natl Acad Sci USA 1993; 90:8538-42.
31. Tse W, Zhu W, Chen HS, Cohen A. A novel gene, AFlq, fused to MLL in t(1;11)(q21;q23), is specifically expressed in leukemic and immature hematopoietic cells. Blood 1995; 85:650-6.
32. Bernard OA, Mauchauffe M, Mecucci C, Van Der Berghe H, Berger R. A novel gene, AFlp, fused to HRX in t(1;11) (p32;q23), is not related to AF1, AF9 nor ENL Oncogene 1994; 9:1039-45.
33. Taki T, Sako M, Tsuchida M, Hayashi Y. The t(11;16) (q23;p13) translocation in myelodysplastic syndrome fuses the MLL gene to the CBP gene. Blood 1997; 89: 3945-50.
34. Chaplin T, Ayton P, Olivier AB, et al. A novel class of zinc finger/leucine zipper genes identified from the molecular cloning of the t(10;11) translocation in acute leukemia. Blood 1995; 85:1435-41.
35. Rowley JD. The der(11) chromosome contains the critical breakpoint junction in the 4-11, 9-11, and 11-19 translocations in acute leukemia. Genes Chromosom Cancer 1992; 5:264-6.
36. Tanabe S, Bohlander SK, Vignon CV, et al. AF10 is split by MLL and HEAB, a human homologue to a putative Caenorhabditis elegans ATP/GTP binding protein in an invins (10;11)(pl2; q23; q12). Blood 1996; 88:3535-45.
37. Cherif D, Romana S, Der-Sarkissian H, Jones C, Berger R. Chromosome painting in acute monocytic leukemia. Gene Chromosome Cancer 1993; 6:107-12.
38. Downing JR, Head DR, Raimondi SC, et al. The der (11)-encoded ALL1/AF4 fusion transcript is consistently detected in the t(4;11)(q21;q23)-containing acute lymphoblastic leukemia. Blood 1994; 83:330-5.
39. Schichman SA, Caligiuri MA, Gu Y, et al. ALL1 partial duplication in acute leukemia. Proc Natl Acad Sci USA 1994; 91:6236-9.
40. Hess JL, Yu BD, Li B, Hanson R, Korsmayer JS. Defects in yolk sac hematopoiesis in MLL-null embryos. Blood 1997; 90:1799-806.
41. Rogaia D, Grignani F, Carbone R, et al. The localization of the HRX/ALL1 protein to specific nuclear subdomains is altered by fusion with its epsl5 translocation partner. Cancer Res 1997; 57:799-802.
42. Corral J, Lavenir I, Impey H, et al. An MLL-AF9 fusion gene made by homologous recombination causes acute leukemia in chimeric mice: a method to create fusion oncogene. Cell 1996; 85:853-61.
43. Strissel-Broeker PLS, Super HG, Thirman MJ, et al. 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 II consensus binding sites. Blood 1996; 87: 1912-22.
44. Gu Y, Cimino G, Alder H, et al. The t(4;11)(q21;q23) chromosome translocations in acute leukemias involve the VDJ recombinase. Proc Natl Acad Sci USA 1992; 89:10464-8.
45. Gu Y, Alder H, Nakamura T, et al. Sequence analysis of the breakpoint cluster region in the ALL1 gene involved in acute leukemia. Cancer Res 1994; 54: 2327-32.
46. Ford AM, Ridge SA, Cabrera ME, et al. In utero rearrangements in the trithorax-related oncogene in infant leukemias. Nature 1993; 363:358-60.
47. Ross JA, Davies SM, Potter JD, Robinson LL. Epidemiology of childhood leukemia with a focus on infants. Epidemiol Rev 1994; 16:243-72.
48. Robinson LL, Buckley JD, Daigle AE, et al. Maternal drug use and risk of childhood nonlymphoblastic leukemia among offspring. An epidemiologic investigation implicating marijuana (a report from the childrens Cancer Study Group). Cancer 1989; 63:1904-11.
49. Severson RK, Buckley JD, Woods WG, Benjamin D, Robinson LL Cigarette smoking and alcohol consumption of parents of children with acute myeloid leukemia: an analysis within morphologic subgroups a report from the Children's Cancer Study Group. Cancer Epidemiol Biomar Prev 1993; 2:433-9.
50. Buckley JD, Robinson LL, Swotinsky R, et al. Occupational exposure of parents of children with acute non lymphocytic leukemia: a report from the Children's Cancer Study Group. Cancer Res 1989; 49:4030-7.
51. Cimino G, Rapanotti MC, Biondi A, et al. Infant acute leukemia show the same biased distribution of ALL1 gene breaks as topoisomerase II related secondary acute leukemia. Cancer Res 1997; 57:2879-83.
52. Cimino G, Lo Coco F, Biondi A, et al. ALL1 gene at chromosome 11q23 is consistently altered in acute leukemia of early infancy. Blood 1993; 82:544-7.
53. Sorensen PHB, Chen CH, Smith FO, et al. Molecular rearrangements of the MLL gene are present in most cases of infant acute myeloid leukemia and are strongly correlated with monocytic or myelomonocytic phenotypes. J Clin Invest 1994; 93:429-37.
54. Cimino G, Rapanotti MC, Rivolta A, et al. Prognostic relevance of ALL1 gene rearrangement in infant acute leukemia. Leukemia 1995; 9:391-5.
55. Chen CS, Sorensen PHB, Domer PH, et al. Molecular rearrangements on chromosome 11 q23 predominate in infant acute lymphoblastic leukemia and are associated with specific biologic variables and poor outcome. Blood 1993; 81:2386-93.
56. Pui CH, Behm FG, Downing JR, et al. 11q23/MLL rearrangement confers a poor prognosis in infants with acute lymphoblastic leukemia. J Clin Oncol 1994; 12:909-15.
57. Janssen JWC, Ludwig WD, Borkhardt A, et al. Pre-pre B acute lymphoblastic leukemia: high frequency of alternatively spliced ALL1/AF4 transcripts and absence of minimal residual disease during complete remission. Blood 1994; 84:3835-42.
58. Bower M, Pary P, Carter M, et al. Prevalence and clinical correlations of MLL gene rearrangements in AML-M4/M5. Blood 1994; 84:3776-80.
59. Cimino G, Rapanotti MC, Elia L, et al. ALL1 gene rearrangements in acute myeloid leukemia: association with M4-M5 French-American-British classification subtypes and young age. Cancer Res 1995; 55: 1625-8.
60. Poirel H, Rack K, Delabesse E, et al. Incidence and characterization of MLLgene (11q23) rearrangements in acute myeloid leukemia M1 and M5. Blood 1996; 87; 2496-505.
61. Stong RC, Korsmeyer SJ, Parkin JL, Arthur DC, Kersey JH. Human acute leukemia cell line with the t(4;11) chromosomal rearrangement exhibits B lineage and monocytic characteristics. Blood 1985; 65:21-31.
62. Yamamoto K, Seto M, Iida S, et al. A reverse transcriptase-polymerase chain reaction detects heterogeneous chimeric mRNAs in leukemias with 11q23 abnormalities. Blood 1994; 83:2912-21.
63. Biondi A, Rambaldi A, Rossi V, et al. Detection of ALL1/AF4 fusion transcript by reverse transcriptase polymerase chain reaction for diagnosis and monitoring of acute leukemias with t(4-11) translocation. Blood 1993; 82:2943-7.
64. Cimino G, Elia L, Rivolta A, et al. Clinical relevance of residual disease monitoring by polymerase chain reaction in patients with ALL1/AF4 positive-acute lymphoblastic leukemia. Br J Haematol 1996; 92:659-64.
65. HillionJ, Le Coniat M, Jonveaux P, Berger R, Bernard OA. AF6q21, a novel partner of the MLL gene in t(6;11) (q21; q23), defines a forkhead transcriptional factor subfamily. Blood 1997; 90:3714-9.