Abstract
Spectral karyoty** (SKY) was performed in patients with acute myeloid leukemia (AML; n = 25), secondary AML (s-AML; n = 7), myelodysplastic syndrome (MDS; n = 6) and s-MDS (n = 1) to complement conventional cytogenetic investigations. According to the results of conventional cytogenetics the patients were subdivided into three groups: group 1, normal karyotype, n = 19 cases, median age = 64 years; group 2, patients displaying either one or two single aberrations, n = 10 cases, median age = 54 years; group 3, patients with ⩾3 independent aberrations, n = 10 cases, median age = 61.5 years. SKY identified no abnormal metaphases in group 1. In one patient of group 2 a hidden translocation t(7;14)(q3?1;q2?2) could be revealed with SKY. Conventional cytogenetics had only shown trisomy 8. A similar t(7;14) was also detected in one patient of group 3. SKY was helpful for the delineation of marker chromosomes and additional material. Furthermore, SKY could distinguish between partial and total monosomies or real existing and apparent deletions. The combination of G-banding, FISH and SKY was found very useful for the precise delineation of the karyotype. As a result of our study we recommend SKY investigation as an important additional tool for accurate chromosome analysis. The detected t(7;14) might represent a novel recurrent translocation in acute myeloid leukemias.
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Grimwade D, Walker H, Oliver F, Wheatley K, Harrison C, Harrison G, Rees J, Hann I, Stevens R, Burnett A, Goldstone A . The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial Blood 1998 92: 2322–2333
Heim S, Mitelman F . Cancer Cytogenetics Wiley-Liss, Inc: New York 1995
Samdani A, Vijapurkar U, Grimm MA, Spier CS, Grogan TM, Glinsmann TM, Glinsmann-Gibson BJ, List AF . Cytogenetics and P-glycoprotein (PGP) are independent predictors of treatment outcome in acute myeloid leukemia (AML) Leukemia Res 1996 20: 175–180
Bloomfield CD, Shuma C, Regal L, Philip PP, Hossfeld DK, Hagemeijer AM, Garson OM, Peterson BA, Sakurai M, Alimena G, Berger R, Rowley JD, Ruutu T, Mitelman F, Dewald GW, Swansbury J . Long-term survival of patients with acute myeloid leukemia: a third follow-up of Fourth International Workshop on Chromosomes in Leukemia Cancer 1997 80: (11 Suppl.) 2191–2198
Bloomfield CD, Lawrence D, Byrd JC, Carroll A, Pettenati MJ, Tantravahi R, Patil SR, Davey FR, Berg DT, Schiffer CA, Arthur DC, Mayer RJ . Frequency of prolonged remission duration after high-dose cytarabine intensification in acute myeloid leukemia varies by cytogenetic subtype Cancer Res 1998 58: 4173–4179
Knutsen T, Veldman T, Padilla-Nash H, Schröck E, Liyanage M, Ried T . Spectral karyoty**: chromosomes in color Appl Cytogenet 1997 23: 26–32
Schröck E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Ried T . Multicolor spectral karyoty** of human chromosomes Science 1996 273: 494–497
Speicher MR, Ballard SG, Ward DE . Karyoty** human chromosomes by combinatorial multi-fluor FISH Nat Genet 1996 12: 368–375
Ehninger G, Schäkel U, Schaich M, Aulitzky W, Bodenstein H, Clemens M, Engberding R, Fauser A, Gramatzki M, Greiner L, Hartenstein R, Heidemann E, Heißmeier H, Huhn D, Jähde E, Kettner W, Kuse R, Hirsch F, Link H, Neubauer A, Öhl S, Pascheberg U, Pflüger P, Ritter M, Saal J, Schalk K, Schmidt H, Soucek S, Wagner T, Wilms K, Wandt H . Risk adapted stratification of postremission therapy in adult acute myeloid leukemia: interim analysis of the cooperative SHG AML96 study Ann Hematol 1998 77: (Suppl.II) A696
Benn PA, Perle MA . Chromosome staining and banding techniques. In: Rooney DE, Czepulkowski BH (eds) Human Cytogenetics volI: Oxford University Press: New York 1992 pp 95–96
Stollmann B, Fonatsch Ch, Havers W . Persistent Epstein–Barr virus infection associated with monosomy 7 or chromosome 3 abnormality in childhood myeloproliferative disorders Br J Haematol 1985 60: 183–196
Haase D, Fonatsch C, Freund M . Karyotype instability in myelodysplastic syndromes – a specific step in pathogenesis preceding clonal chromosome anomalies Leuk Lymphoma 1992 8: 221–228
Rowley JD, Reshmi S, Carlson K, Roulston D . Spectral karyotype analysis of T-cell acute leukemia Blood 1999 93: 2038–2042
Veldman T, Vignon C, Schröck E, Rowley JD, Ried T . Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyoty** Nat Genet 1997 15: 406–410
Bain BJ . The role of cytogenetics in the assessment of haematoloÍgical disorders. In: Rooney DE, Czepulkowski BH (eds) Human Cytogenetics vol II: Oxford University Press: New York 1992 p 128
Ben-Yehuda D, Krichevsky S, Caspi O, Rund D, Polliack A, Abeliovich D, Zelig O, Yahalom V, Paltiel O, Or R, Peretz T, Ben-Neriah S, Yehuda O, Rachmilewitz EA . Microsatellite instability and p53 mutations in therapy-related leukemia suggest mutator phenotype Blood 1996 88: 4296–4303
La Starza R, Wlodarska I, Aventin A, Falzetti D, Crescenti B, Martelli MF, Van den Berghe H, Mecucci C . Molecular delineation of 13q deletion boundaries in 20 patients with myeloid malignancies Blood 1998 91: 231–237
Wlodarska I, La Starza R, Baens M, Dierlamm J, Uyttebroeck A, Selleslag D, Francine A, Mecucci C, Hagemeijer A, Van den Berghe H, Marynen P . Fluorescence in situ hybridization characterization of new translocations involving TEL (ETV6) in a wide spectrum of hematologic malignancies Blood 1998 91: 1399–1406
Tosi S, Giudici G, Mosna G, Harbott J, Specchia G, Grosveld G, Privitera E, Kearney L, Biondi A, Cazzaniga G . Identification of new partner chromosomes involved in fusions with the ETV6 (TEL) gene in hematologic malignancies Genes Chromosomes Cancer 1998 21: 223–229
Chase A, Reiter A, Burci L, Cazzaniga G, Biondi A, Pickard J, Roberts IA, Goldman JM, Cross NC . Fusion of ETV6 to the caudal homeobox gene CDX2 in acute myeloid leukemia with the t(12;13)(p13;q12) Blood 1999 93: 1025–1031
Golub TR, Slonim DK, Tamayo P, Huard C, Gaasenbeek M, Mesirov JP, Coller H, Loh ML, Downing JR, Caligiuri MA, Bloomfield CD, Lander ES . Molecular classification of cancer: class discovery and class prediction by gene expression monitoring Science 1999 286: 531–537
Acknowledgements
We thank Ulrike Ehrenlechner, Jeannette Mundt, Ulrike Fitze and Leontine Köhler for the skilful technical assistance in cytogenetics, FISH and SKY investigations and Silke Soucek for data management and preparation of the figures. Additional thanks to Dr Annelore Junge and Petra Kieback (Gemeinschaftspraxis B Prager/Junge, Dresden) for the possibility of using their SKY system and for the helpful discussion. We appreciate the contribution of all participants in the AML96 study and Dr Michael Aßmann (Riesa).
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Mohr, B., Bornhäuser, M., Thiede, C. et al. Comparison of spectral karyoty** and conventional cytogenetics in 39 patients with acute myeloid leukemia and myelodysplastic syndrome. Leukemia 14, 1031–1038 (2000). https://doi.org/10.1038/sj.leu.2401775
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DOI: https://doi.org/10.1038/sj.leu.2401775
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