Multicolor karyotyping in acute myeloid leukemia

Leukemia and Lymphoma

Volumn 44, Issue 11, 2003, Pages 1843-1853

  Tchinda, Joëlle ^a   Volpert, Sarah ^a   McNeil, Nicole ^b   Neumann, Thomas ^a   Kennerknecht, Ingo ^a   Ried, Thomas ^b   Büchner, Thomas ^a   Serve, Hubert ^a   Berdel, Wolfgang E ^a   Horst, Jürgen ^a   Hilgenfeld, Eva ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b NATIONAL CANCER INSTITUTE   (United States)

Author keywords

AML; M FISH; MDS; SKY

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; CANCER REGRESSION; CANCER SURVIVAL; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME G BAND; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 22; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC SCREENING; HUMAN; KARYOTYPING; LEUKEMOGENESIS; METAPHASE CHROMOSOME; MOUSE; MYELODYSPLASTIC SYNDROME; NONHUMAN; PRIORITY JOURNAL; PROGNOSIS; RECIPROCAL CHROMOSOME TRANSLOCATION; REVIEW;

ACUTE DISEASE; ANIMALS; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LEUKEMIA, MYELOID; TRANSLOCATION, GENETIC;

EID: 10744227849     PISSN: 10428194     EISSN: None     Source Type: Journal    
DOI: 10.1080/10428190310001603605     Document Type: Review

References (68)

1. Rowley, J.D. (1973) "Identification of a translocation with quinacrine fluorescence in a patient with acute leukaemia", Annals of Genetics 16, 109-112.
2. Harris, N.L., Jaffe, E.S., Diebold, J., Flandrin, G., Muller-Hermelink, H.K., Vardiman, J., Lister, T.A. and Bloomfield, C.D. (1999) "World Health Organization classification of neoplastic diseases of the hematopoietic and lymphoid fissues; Report of the clinical advisory committee meeting - Airlie House, Virginia, November 1997", Journal of Clinical Oncology 17, 3835-3849.
3. Mrózek, K., Heinonen, K., de la Chapelle, A. and Bloomfield, C.D. (1997) "Clinical significance of cytogenetics in acute myeloid leukemia", Seminars in Oncology 24, 17-31.
4. Mrózek, K., Heinonen, K. and Bloomfield, C. (2001) "Clinical importance of cytogenetics in acute myeloid leukemia", Best Practice & Research Clinical Haematology 14, 19-47.
5. Grimwade, D., Walker, H., Oliver, F., Wheatley, K., Harrison, C., Harrison, G., Rees, J., Hann, I., Stevens, R., Burnett, A. and Goldstone, A. (1998) "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 children's leukaemia working parties", Blood 92, 2322-2333.
6. Schröck, E., du Manoir, S., Veldman, T., Schoell, B., Wienberg, J., Ferguson-Smith, M.A., Ning, Y., Ledbetter, D.H., Bar-Am, I., Soenksen, D., Garini, Y. and Ried, T. (1996) "Multicolor spectral karyotyping of human chromosomes", Science 273, 494-497.
7. Speicher, M.R., Ballard, S.G. and Ward, D.C. (1996) "Karyotyping human chromosomes by combinatorial multi-fluor FISH", Nature Genetics 12, 368-375.
8. Fan, Y.S., Siu, V.M., Jung, J.H. and Xu, J. (2000) "Sensitivity of multiple color spectral karyotyping in detecting small interchromosomal rearrangements", Genetic Testing 4, 9-14.
9. Holinski-Feder, E., Reyniers, E., Uhrig, S., Golla, A., Wauters, J., Kroisel, P., Bossuyt, P., Rost, I., Jedele, K., Zierler, H., Schwab, S., Wildenauer, D., Speicher, M.R., Willems, P.J., Meitinger, T. and Kooy, R.F. (2000) "Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16 (q29;p13.3)", American Journal of Human Genetics 66, 16-25.
10. Jalal, S.M. and Law, M.E. (2002) "Multicolor FISH", Methods in Molecular Biology 204, 105-120.
11. Chudoba, I., Plesch, A., Lorch, T., Lemke, J., Claussen, U. and Senger, G. (1999) "High resolution multicolor-banding: a new technique for refined FISH analysis of human chromosomes", Cytogenetics and Cell Genetics 84, 156-160.
12. Kearney, L. (1999) "The impact of the new fish technologies on the cytogenetics of haematological malignancies", British Journal of Haematology 104, 648-658.
13. Kearney, L. (2001) "Molecular cytogenetics", Best Practice & Research Clinical Haematology 14, 645-668.
14. Schröck, E. and Padilla-Nash, H. (2000) "Spectral karyotyping and multicolour fluorescence in situ hybridisation reveal new tumor-specific chromosomal aberrations", Seminars in Hematology 37, 334-347.
15. Fauth, C. and Speicher, M.R. (2001) "Classifying by colors: FISH-based genome analysis", Cytogenetics and Cell Genetics 93, 10, Cytogenetics and Cell Genetics, 94, 254.
16. Liehr, T., Weise, A., Heller, A., Starke, H., Mrasek, K., Kuechler, A., Weier, H.U. and Claussen, U. (2002) "Multicolor chromosome banding (MCB) with YAC/BAC-based probes and region-specific microdissection DNA libraries", Cytogenetic and Genome Research 97, 43-50.
17. Veldmann, T., Vignon, C., Schröck, E., Rowley, J.D. and Ried, T. (1997) "Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping", Nature Genetics 15, 406-410.
18. Beverloo, H.B., van Drunen, E., Smit, B. and Slater, R. (1999) "Identification of new chromosomal aberrations in acute leukemia using spectral karyotyping", Blood 94, 494a.
19. Fleischman, E.W., Reshmi, S., Sokova, O.I., Kirichenko, O.P., Konstantinova, L.N., Kulagina, O.E., Frenkel, M.A. and Rowley, J.D. (1999) "Increased karyotype precision using fluorescence in situ hybridisation and spectral karyotyping in patients with myeloid malignancies", Cancer Genetics and Cytogenetics 108, 166-170.
20. Kakazu, N., Taniwaki, M., Horiike, S., Nishida, K., Tatekawa, T., Nagai, M., Takahashi, T., Akaogi, T., Inazawa, J., Ohk, M. and Abe, T. (1999) "Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome", Genes, Chromosomes, and Cancer 26, 336-345.
21. Calabrese, G., Fantasia, D., Spadano, A., Morizio, E., Di Bartolomeo, P. and Palka, G. (2000) "Karyotype refinement in five patients with acute myeloid analysed using spectral karyotyping", Haematologica 85, 1219-1221.
22. Helias, C., Ferrant, D., Leymarie, V., Aurich-Costa, J., Cherif, D. and Lessard, M. (2000) "Assessment of IPM-FISH, a new M-FISH technique combining combinatorial labeling and R-banding: Study of a serie of 50 various hemopathies", Blood 96, 707a.
23. Mohr, B., Bornhäuser, M., Thiede, C., Schäkel, U., Schaich, M., Illmer, T., Pascheberg, U. and Ehninger, G. (2000) "Comparison of spectral karyotyping and conventional cytogenetics in 39 patients with acute myeloid leukemia and myelodysplastic syndrome", Leukemia 14, 1031-1038.
24. Kerndrup, G.B. and Kjeldsen, E. (2001) "Acute leukemia cytogenetics: an evaluation of combining G-band karyotyping with multi-color spectral karyotyping", Cancer Genetics and cytogenetics 124, 7-11.
25. Zhang, F.F., Murata-Collins, J.L., Gaytan, P., Forman, S.J., Kopecky, K.J., Willmann, C.L., Appelbaum, F.R. and Slovak, M.L. (2000) "Twenty-four-color spectral karyotyping reveals chromosome aberrations in cytogenetically normal acute myeloid leukemia", Genes, Chromosomes, and Cancer 28, 318-328.
26. Hilgenfeld, E., Padilla-Nash, H., McNeil, N., Knutsen, T., Montagna, C., Tchinda, J., Horst, J., Ludwig, W.D., Serve, H., Büchner, T., Berdel, W.E., Schröck, E. and Ried, T. (2001) "Spectral karyotyping and fluorescence in situ hybridization detect novel chromosomal aberrations, a recurring involvement of chromosome 21 and amplification of the MYC oncogene in acute mycloid leukaemia M2", British Journal of Haematology 113, 305-317.
27. Andersen, M.K. and Pedersen-Bjergaard, J. (2001) "Multi-Color FISH in 54 patients with therapy-related MDS/AML", Blood 98, 579a.
28. Brown, J., Jawad, M., Twigg, S.R., Saracoglu, K., Sauerbrey, A., Thomas, A.E., Eils, R., Harbott, J. and Kearney, L. (2002) "A cryptic t(5;11)(q35;p15.5) in 2 children with acute myeloid leukaemia with apparently normal karyotypes, identified by a multiplex fluorescence in situ hybridisation assay", Blood 99, 2526-2531.
29. Dalley, C.D., Neat, M.J., Foot, N.J., Burridge, M., Byrne, L., Amess, J.A., Rohatiner, A.Z., Lister, A., Young, B.D. and Lillington, D.M. (2002) "Comparative genomic hybridisation and multiplex-fluorescence in situ hybridisation: an appraisal in elderly patients with acute myelogeneous leukaemia", The Hematology Journal 3, 290-298.
30. Ketterling, R.P., Wyatt, W.A., VanWier, S.A., Law, M., Hodnefield, J.M., Hanson, C.A. and Dewald, G.W. (2002) "Primary myelodysplastic syndrome with normal cytogenetics: utility of 'FISH panel testing' and M-FISH", Leukemia Research 26, 235-240.
31. Klaus, M., Haferlach, T., Schnittger, S., Hiddemann, W. and Schoch, C. (2002) "Acute myeloid leukemia (AML) with normal karyotype: further characterization by fluorescence in situ hybridization (FISH) in 489 patients", Blood 100, 310a.
32. Schoch, C., Chistodoulou, J., Hiddemann, W. and Haferlach, T. (2002) "A distinct pattern of gained and lost chromosomal regions emerges in acute myeloid leukaemia (AML) with complex aberrant karyotype: a study on 41 patients analyzed with 24 color FISH and comparative genomic hybridization(CGH)", Blood 100, 308a.
33. Vey, N., Groulet, A., Mozziconacci, M.-J., Debono, S., Deraco, S., Devilard, E., Toiron, Y., Tagett, R., Sainty, D., Hermitte, F., Birg, F., Blaise, D., Houlgatte, R., Fert, V., Birnbaum, D. and Bertucci, F. (2002) "Gene expression profiling of acute myeloid leukemias with normal karyotype", Blood 100, 745a.
34. Lindvall, C., Nordenskjöld, M., Porwit, A., Björkholm, M. and Blennow, E. (2001) "Molecular cytogenetic characterization of acute myeloid leukemia and myclodysplastic syndromes with multiple chromosome rearrangements", Haematologica 86, 1158-1164.
35. Odero, M.D., Carlson, K.M., Calasanz, M.J. and Rowley, J.D. (2001) "Further characterization of complex chromosomal rearrangements in mycloid malignancies: spectral karyotyping adds precision in defining abnormalities associated with poor prognosis", Leukemia 15, 1133-1136.
36. Barouk-Simonet, E., Soenen-Cornu, V., Roumier, C., Cosson, A., Lai, J.-L., Fenaux, P. and Preudhomme, C. (2001) "Role of multiplex FISH (M-FISH) in identifying chromosome involvement in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) with complex karyotype. A report on 20 cases", Blood 98, 847a.
37. Mrózek, K., Heinonen, K., Theil, K.S. and Bloomfield, C.D. (2002) "Spectral karyotyping in patients with acute mycloid leukemia and a complex karyotype shows hidden aberrations, including recurrent overrepresentation of 21q, 11q, 22q", Genes, Chromosomes, and Cancer 34, 137-153.
38. Schoch, C., Haferlach, T., Bursch, S., Gerstner, D., Schnittger, S., Dugas, M., Kern, W., Löffler, H. and Hiddemann, W. (2002) "Loss of genetic material is more common than gain in acute myeloid leukemia with complex aberrant karyotype: a detailed analysis of 125 cases using conventional chromosome analysis and fluorescence in situ hybridization including 24-color FISH", Genes, Chromosomes, and Cancer 35, 20-29.
39. Van Limbergen, H., Poppe, B., Michaux, L., Herens, C., Brown, J., Noens, L., Berneman, Z., De Bock, R., De Paepe, A. and Speleman, F. (2002) "Identification of cytogenetic subclasses and recurring chromosomal aberrations in AML and MDS with complex karyotypes using M-FISH", Genes, Chromosomes, and Cancer 33, 60-72.
40. Sait, S.N.J., Qadir, M.U., Conroy, J.M., Matsui, S.-I., Nowak, N.J. and Baer, M.R. (2002) "Double minute chromosomes in acute myeloid leukaemia and myelodysplastic syndrome: Identification of new amplification regions by fluorescence in situ hybridisation and spectral karyotyping", Genes, Chromosomes, and Cancer 34, 42-47.
41. Ning, Y., Liang, J.C., Nagarajan, L., Schröck, E. and Ried, T. (1998) "Characterization of 5q deletions by subtelomeric probes and spectral karyotyping", Cancer Genetics and Cytogenetics 103, 170-172.
42. Odero, M.D., Carlson, K., Calasanz, M.J., Lahortiga, I., Chinwalla, V. and Rowley, J.D. (2001) "Identification of new translocations involving ETV6 in hematologic malignancies by fluorescence in situ hybridisation and spectral karyotyping", Genes, Chromosomes, and Cancer 31, 134-142.
43. Farag, S., Challis, J., White, J. and Garson, O.M. (1992) "Novel translocation (2;4) with consistent involvement of 2p23 in acute nonlymphocytic leukemia (M2)", Cancer Genetics Cytogenetics 58, 48-51.
44. Hilgenteld, E., Padilla-Nash, H., Serve, H., Yonescu, R., Ludwig, W.D., Büchner, T., Berdel, W.E., Ried, T. and Schröck, E. (1999) "Detection of new aberrations in acute myeloid leukemia (AML) by spectral karyotyping (SKY)", Proceedings of the American Association for Cancer Research 40, 541.
45. Mitelman, F., Johansson, B., Mertens, F., (2002) Mitelman database of chromosome aberrations in Cancer. http://cgap.nci.nih.gov/chromosomes/mitelman
46. Liyanage, M., Coleman, A., du Manoir, S., Veldman, T., McCormack, S., Dickson, R.B., Barlow, C., Wynshaw-Boris, A., Janz, S., Wienberg, J., Ferguson-Smith, M.A., Schröck, E. and Ried, T. (1996) "Multicolour spectral karyotyping of mouse chromosomes", Nature Genetics 14, 312-315.
47. Knutsen, T. and Ried, T. (2000) "SKY. a comprehensive diagnostic and research tool. A review of the first 300 publisched cases", Journal of the Association of Genetic Technologists 26, 3-15.
48. Jentsch, I., Adler, I.D., Carter, N.P. and Speicher, M.R. (2001) "Karyotyping mouse chromosomes by multiplex-FISH (M-FISH ", Chromosome Research 9, 211-214.
49. Castilla, L.H., Garrett, L., Adya, N., Orlic, D., Dutra, A., Anderson, S., Owens, J., Eckhaus, M., Bodine, D. and Liu, P.P. (1999) "The fusion gene Cbfb-MYH11 blocks myeloid differentiation and predisposes mice to acute myelomonocytic leukaemia", Nature Genetics 23, 144-146.
50. Zimonjic, D.B., Pollock, J.L., Westervelt, P., Popescu, N.C. and Ley, T.J. (2000) "Acquired, non-random chromosomal abnormalities associated with the development of acute promyelocytic leukaemia in transgenic mice", Proceedings of the National Academy of Sciences of the U.S.A. 97, 13306-13311.
51. Changou, A.C., Hilgenfeld, E., McNeil, N., He, L.-Z., Montagna, C., Ried, T. and Pandolfi, P.P. (2001) "A recurring, nonrandom pattern of chromosomal aberrations associated with the development of acute promyelocytic leukemia in PLZF-RARα- and PLZF-RARα/RARα-PLZF transgenic mice", Blood 98, 99a.
52. Le Beau, M.M., Bitts, S., Davis, E.M. and Kogan, S.C. (2002) "Recurring chromosomal abnormalities in leukaemia in PML-RARA transgenic mice parallel human acute promyelocytic leukaemia", Blood 99, 2985-2991.
53. Sawyer, J.R., Lukacs, J.L., Munshi, N., Desikan, K.R., Singhal, S., Mehta, J., Siegel, D., Shaughnessy, J. and Barlogie, B. (1998) "Identification of new non-random translocations in multiple myeloma with multicolour spectral karyotyping", Blood 92, 4269-4278.
54. Elghezal, H., Le Guyader, G., Radford-Weiss, I., Perot, C., Van Den Akker, J., Eydoux, P., Vekemans, M. and Romana, S.P. (2001) "Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis", Genes, Chromosomes, and Cancer 30, 383-392.
55. Lee, C., Gisselsson, D., Jin, C., Nordgren, A., Ferguson, D.O., Blennow, E., Fletcher, J.A. and Morton, C. (2001) "Limitations of chromosome classification by multicolour karyotyping", American Journal of Human Genetics 68, 1043-1047.
56. Azofeifa, J., Fauth, C., Kraus, J., Maierhofer, C., Langer, S., Bolzer, A., Reichman, J., Schuffenhauer, S. and Speicher, M.R. (2000) "An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH", American Journal of Human Genetics 66, 1684-1688.
57. Tonon, G., Roschke, A., Stover, K., Shou, Y., Kuehl, W.M. and Kirsch, I.R. (2000) "Spectral karyotyping combined with locus-specific FISH simultaneously defines genes and chromosomes involved in chromosomal translocations", Genes, Chromosomes, and Cancer 27, 418-423.
58. Saracoglu, K., Brown, J., Kearney, L., Uhrig, S., Azofeifa, J., Fauth, C., Speicher, M.R. and Eils, R. (2001) "New concepts to improve resolution and sensitivity of molecular cytogenetic diagnostics by multicolour fluorescence in situ hybridisation", Cytometry 44, 7-15.
59. Brown, J., Saracoglu, K., Uhrig, S., Speicher, M.R., Eils, R. and Kearney, L. (2001) "Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL)", Nature Medicine 7, 497-501.
60. Fauth, C., Zhang, H., Harabacz, S., Brown, J., Saracoglu, K., Lederer, G., Rittinger, O., Rost, I., Eils, R., Kearney, L. and Speicher, MR. (2001) "A new strategy for the detection of subtelomeric rearrangements", Humun Genetics 109, 576-583.
61. Henegariu, O., Artan, S., Greally, J.M., Chen, X.N., Korenberg, J.R., Vance, G.H., Stubbs, L., Bray-Ward, P. and Ward, D.C. (2001) "Cryptic translocation identification in human and mouse using several telomeric multiplex fish (TM-FISH) strategies", Laboratory Investigation 81, 483-491.
62. Bruckert, P., Kappler, R., Scherthan, H., Link, H., Hagmann, F.-G. and Zankl, H. (2000) "Double minutes and c-MYC amplification in acute myelogeneous leukemia: are they prognostic factors?", Cancer Genetics and Cytogenetics 120, 73-79.
63. Farag, S., Archer, K.J., Mrózek, K., Vardiman, J.W., Carroll, A.J., Pettenati, M.J., Moore, J.O., Kolitz, J.E., Mayer, R.J., Stone, R.M., Larson, R.A. and Bloomfield, C.D. (2002) "Isolated trisomy of chromosomes 8, 11, 13 and 21 is an adverse prognostic factor in adults with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B 8461", International Journal of Oncology 21, 1041-1051.
64. NCI and NCBI (2001) spectral karyotyping SKY and comparative genomic hybridisation CGH database http://www.ncbi.nlm.nih.gov/sky/skyweb.cgi.
65. Kirsch, I.R. and Ried, T. (2000) "Integration of cytogenetic data with genome maps and available probes: present status and future promise", Seminars in Hematology 37, 420.
66. Tchinda, J., Volpert, S., Neumann, T., Kennerknecht, I., Ritter, J., Büchner, T., Berdel, W.E. and Horst, J. (2002) "Novel translocation (1;19) in two patients with myeloid neoplasias", Cancer Genetics and Cytogenetics 133, 61-65.
67. Wang, P., Spielberger, R.T., Thangavelu, M., Zhao, N., Davis, E.M., Iannantuoni, K., Larson, R.A. and Le Beau, M.M. (1997) "dic(15;17): a recurring abnormality in malignant myeloid disorders associated with mutations of TP53", Genes, Chromosomes, and Cancer 20, 282-291.
68. Tien, H.F., Wang, C.H., Chuang, S.M., Lee, F.Y., Liu, M.C., Chen, Y.C., Shen, M.C., Lin, D.T., Lin, K.H., Lin, K.S. and Liu, C.H. (1992) "Characterization of Philadelphia-chromosome-positive acute leukemia by clinical, immunocytochemical, and gene analysis", Leukemia 6, 907-914.