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Clinical Laboratory Correlates

Comparison of spectral karyotyping and conventional cytogenetics in 39 patients with acute myeloid leukemia and myelodysplastic syndrome

Leukemia volume 14, pages 1031–1038 (2000)Cite this article

Abstract

Spectral karyotyping (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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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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Authors and Affiliations

  1. Medizinische Klinik und Poliklinik I, Universitätsklinikum ‘Carl Gustav Carus’, Dresden, Germany

    B Mohr, M Bornhäuser, C Thiede, U Schäkel, M Schaich, T Illmer & G Ehninger

  2. Gemeinschaftspraxis für Laboratoriumsmedizin, Dortmund, Germany

    U Pascheberg

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  1. B Mohr
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Mohr, B., Bornhäuser, M., Thiede, C. et al. Comparison of spectral karyotyping 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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