Chromosomal translocations in AML: Detection and prognostic significance

Cancer Treatment and Research

Volumn 145, Issue , 2010, Pages 41-58

  Palanisamy, Nallasivam ^a  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; ACUTE MEGAKARYOCYTIC LEUKEMIA; ACUTE MONOCYTIC LEUKEMIA; ACUTE MYELOBLASTIC LEUKEMIA; ACUTE MYELOMONOCYTIC LEUKEMIA; C BANDING; CANCER DIAGNOSIS; CHROMOSOME 1; CHROMOSOME 10; CHROMOSOME 11; CHROMOSOME 15; CHROMOSOME 16; CHROMOSOME 17; CHROMOSOME 3; CHROMOSOME 6P; CHROMOSOME 7; CHROMOSOME 8; CHROMOSOME 9; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME G BAND; CHROMOSOME TRANSLOCATION; COMPARATIVE GENOMIC HYBRIDIZATION; ERYTHROLEUKEMIA; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; PRIORITY JOURNAL; PROGNOSIS; PROMYELOCYTIC LEUKEMIA; REFRACTORY CYTOPENIA WITH MULTILINEAGE DYSPLASIA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; TRISOMY 8; UNDIFFERENTIATED CARCINOMA; ADULT; CHILD; CHROMOSOME BANDING PATTERN; CLASSIFICATION; FORECASTING; GENE TRANSLOCATION; GENETICS; HUMAN CHROMOSOME; MORTALITY; PATHOLOGY; PHYSIOLOGY; ULTRASTRUCTURE;

ADULT; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN; FORECASTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LEUKEMIA, MYELOID, ACUTE; NEOPLASM PROTEINS; PROGNOSIS; TRANSLOCATION, GENETIC;

TUMOR PROTEIN;

EID: 77956168831     PISSN: 09273042     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-0-387-69259-3_3     Document Type: Review

References (61)

1. Arrighi FE, Hsu TC. Localization of heterochromatin in human chromosomes. Cytogenetics. 1971;10:81-86.
2. Becher R, Carbonell F, Bartram CR. Isochromosome 17q in Ph1-negative leukemia: a clinical, cytogenetic, and molecular study. Blood. 1990;75:1679-1683.
3. Berger R, Bernheim A, Daniel MT, Flandrin G. t(15;17) in a promyelocytic form of chronic myeloid leukemia blastic crisis. Cancer Genet Cytogenet. 1983;8:149-152.
4. Bernard OA, Mauchauffe M, Mecucci C, Van den Berghe H, Berger R.Anovel gene, AF-1p, fused to HRX in t(1;11)(p32;q23), is not related to AF-4, AF-9 nor ENL. Oncogene. 1994;9:1039-1045.
5. Bloomfield CD, Garson OM, Volin L, Knuutila S, de la Chapelle A. t(1;3)(p36;q21) in acute nonlymphocytic leukemia: a new cytogenetic- clinicopathologic association. Blood. 1985;66:1409-1413.
6. Borrow J, Shearman AM, Stanton VP, Jr, et al. The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9. Nat Genet. 1996;12:159-167.
7. Brennan C, Zhang Y, Leo C, et al. High-resolution global profiling of genomic alterations with long oligonucleotide microarray. Cancer Res. 2004;64:4744-4748.
8. Busson-Le Coniat M, Salomon-Nguyen F, Hillion J, Bernard OA, Berger R. MLL-AF1q fusion resulting from t(1;11) in acute leukemia. Leukemia. 1999;13:302-306.
9. Casas S, Aventín A, Fuentes F, et al. Genetic diagnosis by comparative genomic hybridization in adult de novo acute myelocytic leukemia. Cancer Genet Cytogenet. 2004; 153:16-25.
10. Caspersson T, Zech L, Johansson C. Analysis of human metaphase chromosome set by aid of DNA-binding fluorescent agents. Exp Cell Res. 1970;62:490-492.
11. Caligiuri MA, Strout MP, Lawrence D, et al. Rearrangement of ALL1 (MLL) in acute myeloid leukemia with normal cytogenetics. Cancer Res. 1998;58:55-59.
12. Chan WC, Carroll A, Alvarado CS, et al. Acute megakaryoblastic leukemia in infants with t(1;22)(p13;q13) abnormality. Am J Clin Pathol. 1992;98:214-221.
13. Claxton DF, Liu P, Hsu HB, et al. Detection of fusion transcripts generated by the inversion 16 chromosome in acute myelogenous leukemia. Blood. 1994;83:1750-1756.
14. de la Fuente J, Merx K, Steer EJ, et al. ABL-BCR expression does not correlate with deletions on the derivative chromosome 9 or survival in chronic myeloid leukemia. Blood. 2001;98:2879-2880.
15. Dewald GW, Wyatt WA, Juneau AL, et al. Highly sensitive fluorescence in situ hybridization method to detect double BCR/ABL fusion and monitor response to therapy in chronic myeloid leukemia. Blood. 1998;91:3357-3365.
16. Gall JG, Pardue ML. Formation and detection of RNA-DNA hybrid molecules in cytological preparations. Proc Natl Acad Sci USA. 1969;63:378-383.
17. Garçon L, Libura M, Delabesse E, et al. DEK-CAN molecular monitoring of myeloid malignancies could aid therapeutic stratification. Leukemia. 2005;19:1338-1344.
18. Goodpasture C, Bloom SE, Hsu TC, Arrighi FE. Human nucleolus organizers: the satellites or the stalks? Am J Hum Genet. 1976;28:559-566.
19. Grignani F, Fagioli M, Alcalay M, et al. Acute promyelocytic leukemia: from genetics to treatment. Blood. 1994;83:10-25.
20. Grimwade D, Walker H, Oliver F, et al. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Childrens Leukaemia Working Parties. Blood. 1998;92:2322-2333.
21. Han JY, Theil KS. The Philadelphia chromosome as a secondary abnormality in inv(3)(q21q26) acute myeloid leukemia at diagnosis: confirmation of p190 BCR-ABL mRNA by real-time quantitative polymerase chain reaction. Cancer Genet Cytogenet. 2006;165:70-74.
22. Heim S, Mitelman F. Cancer Cytogenetics. New York: John Wiley & Sons, Inc; 1995.
23. Hopman AH, Wiegant J, Tesser GI, Van Duijn P. A non-radioactive in situ hybridization method based on mercurated nucleic acid probes and sulfhydryl-hapten ligands. Nucleic Acids Res. 1986;14:6471-6488.
24. Hsiao HH, Sashida G, Ito Y, et al. Additional cytogenetic changes and previous genotoxic exposure predict unfavorable prognosis in myelodysplastic syndromes and acute myeloid leukemia with der(1;7)(q10;p10). Cancer Genet Cytogenet. 2006;165: 161-166.
25. Kang LC, Smith SV, Kaiser-Rogers K, Rao K, Dunphy CH. Two cases of acute myeloid leukemia with t(11;17) associated with varying morphology and immunophenotype: rearrangement of the MLL gene and a region proximal to the RARalpha gene. Cancer Genet Cytogenet. 2005;159:168-173.
26. Klaus M, Haferlach T, Schnittger S, Kern W, Hiddemann W, Schoch C. Cytogenetic profile in de novo acute myeloid leukemia with FAB subtypes M0, M1, and M2: a study based on 652 cases analyzed with morphology, cytogenetics, and fluorescence in situ hybridization. Cancer Genet Cytogenet. 2004;155:47-56.
27. Kwong YL, Liu HW, Chan LC. Racial predisposition to translocation (7;11) Leukemia. 1992;6:232.
28. Leroy H, de Botton S, Grardel-Duflos N, et al. Prognostic value of real-time quantitative PCR (RQ-PCR) in AML with t(8;21). Leukemia. 2005;19:367-372.
29. Lin P, Medeiros LJ, Yin CC, Abruzzo LV. Translocation (3;8)(q26;q24): a recurrent chromosomal abnormality in myelodysplastic syndrome and acute myeloid leukemia. Cancer Genet Cytogenet. 2006;166:82-85.
30. Mauritzson N, Albin M, Rylander L, et al. Pooled analysis of clinical and cytogenetic features in treatment-related and de novo adult acute myeloid leukemia and myelodysplastic syndromes based on a consecutive series of 761 patients analyzed 1976-1993 and on 5098 unselected cases reported in the literature 1974-2001. Leukemia. 2002;16: 2366-2378.
31. Mertens F, Johansson B, Mitelman F. Isochromosomes in neoplasia. Genes Chromosomes Cancer. 1994;10:221-230.
32. Mitelman F, Johansson B, Mertens F. Fusion genes and rearranged genes as a linear function of chromosome aberrations in cancer. Nat Genet. 2004;36:331-334.
33. Moir DJ. A new translocation, t(1;3) (p36;q21), in myelodysplastic disorders. Blood. 1984;64:553-555.
34. Mrózek K, Heerema NA, Bloomfield CD. Cytogenetics in acute leukemia. Blood Rev. 2004;18:115-136.
35. Mrózek K, Heinonen K, de la Chapelle A, Bloomfield CD. Clinical significance of cytogenetics in acute myeloid leukemia. Semin Oncol. 1997;24:17-31.
36. Oshima M, Fukushima T, Koike K, Hoshida C, Izumi I, Tsuchida M. Infant leukemia with t(1;22) presenting proliferation of erythroid and megakaryocytic cell lineages. Rinsho Ketsueki. 1999;40:230-235.
37. Patel BB, Mohamed AN, Schiffer CA. "Acute myelogenous leukemia like" translocations in CML blast crisis: two new cases of inv(16)/t(16;16) and a review of the literature. Leuk Res. 1999;30:225-232.
38. Paulsson K, Békássy AN, Olofsson T, Mitelman F, Johansson B, Panagopoulos I. A novel and cytogenetically cryptic t(7;21)(p22;q22) in acute myeloid leukemia results in fusion of RUNX1 with the ubiquitin-specific protease gene USP42. Leukemia. 2006;20:224-229.
39. PaulssonK, Fioretos T, Strömbeck B,MauritzsonN, TankeHJ, Johansson B. Trisomy 8 as the sole chromosomal aberration in myelocytic malignancies: a multicolor and locusspecific fluorescence in situ hybridization study. Cancer Genet Cytogenet. 2003;140:66-69.
40. Ponzetto C, Guerrasio A, Rosso C, et al. ABL proteins in Philadelphia-positive acute leukaemias and chronic myelogenous leukaemia blast crises. Br JHaematol. 1990;76:39-44.
41. Potenza L, Sinigaglia B, Luppi M, et al. A t(11;20)(p15;q11) may identify a subset of nontherapy-related acute myelocytic leukemia. Cancer Genet Cytogenet. 2004;149: 164-168.
42. Raphael BJ, Pevzner PA. Reconstructing tumor amplisomes. Bioinformatics. 2004;20 Suppl 1:i265-i273.
43. Reiter A, Walz C, Watmore A, et al. The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2. Cancer Res. 2005;65:2662-2667.
44. Rozman M, Camós M, Colomer D, et al. Type I MOZ/CBP (MYST3/CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8;16)(p11;p13) translocation. Genes Chromosomes Cancer. 2004;40:140-145.
45. Schneider NR, Bowman WP, Frenkel EP. Translocation (3;21)(q26;q22) in secondary leukemia. Report of two cases and literature review. Ann Genet. 1991;34:256-263
46. Schessl C, Rawat VP, Cusan M, et al. The AML1-ETO fusion gene and the FLT3 length mutation collaborate in inducing acute leukemia in mice. J Clin Invest. 2005;115: 2159-2168.
47. Seabright M. The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man. Chromosoma. 1972;36:204-210.
48. Schnittger S, Kohl TM, Haferlach T, et al. KIT-D816 mutations in AML1-ETO-positive AML are associated with impaired event-free and overall survival. Blood. 2006;107:1791-1799.
49. Shimada A, Taki T, Tabuchi K, et al. KIT mutations, and not FLT3 internal tandem duplication, are strongly associated with a poor prognosis in pediatric acute myeloid leukemia with t(8;21): a study of the Japanese Childhood AML Cooperative Study Group. Blood. 2006;107:1806-1809.
50. Sierra M, Hernández JM, García JL, et al. Hematological, immunophenotypic, and cytogenetic characteristics of acute myeloblastic leukemia with trisomy 11. Cancer Genet Cytogenet. 2005;160:68-72.
51. Soekarman D, von Lindern M, Daenen S, et al. The translocation (6;9) (p23;q34) shows consistent rearrangement of two genes and defines a myeloproliferative disorder with specific clinical features. Blood. 1992;79:2990-2997.
52. Soekarman D, von Lindern M, van der Plas DC, et al. Dek-can rearrangement in translocation (6;9)(p23;q34). Leukemia. 1992;6:489-494.
53. Suzukawa K, Parganas E, Gajjar A, et al. Identification of a breakpoint cluster region 3 of the ribophorin I gene at 3q21 associated with the transcriptional activation of the EVI1 gene in acute myelogenous leukemias with inv(3)(q21q26). Blood. 1994;84:2681-2688.
54. Takatsuki H, Yufu Y, Tachikawa Y, Uike N. Monitoring minimal residual disease in patients with MLL-AF6 fusion transcript-positive acute myeloid leukemia following allogeneic bone marrow transplantation. Int J Hematol. 2002;75:298-301.
55. Tanabe S, Zeleznik-Le NJ, Kobayashi H, et al. Analysis of the t(6;11)(q27;q23) in leukemia shows a consistent breakpoint in AF6 in three patients and in the ML-2 cell line. Genes Chromosomes Cancer. 1996;15:206-216.
56. Thirman MJ, Levitan DA, Kobayashi H, Simon MC, Rowley JD. Cloning of ELL, a gene that fuses to MLL in a t(11;19)(q23;p13.1) in acute myeloid leukemia. Proc Natl Acad Sci USA. 1994;91:12110-12114.
57. Tse W, Zhu W, Chen HS, Cohen A. A novel gene, AF1q, fused to MLL in t(1;11) (q21;q23), is specifically expressed in leukemic and immature hematopoietic cells. Blood. 1995;85:650-656.
58. von Lindern M, Fornerod M, van Baal S, et al. The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA. Mol Cell Biol. 1992;12:1687-1697.
59. Weltermann A, Fonatsch C, Haas OA, et al. Impact of cytogenetics on the prognosis of adults with de novo AML in first relapse. Leukemia. 2004;18:293-302.
60. Willem P, Pinto M, Bernstein R. Translocation t(1;7) revisited. Report of three further cases and review. Cancer Genet Cytogenet. 1988;36:45-54.
61. Yoneda-Kato N, Look AT, Kirstein MN, et al. The t(3;5)(q25.1;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene, NPM-MLF1. Oncogene. 1996;18:265-275.