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Further characterization of complex chromosomal rearrangements in myeloid malignancies: spectral karyotyping adds precision in defining abnormalities associated with poor prognosis

Leukemia volume 15, pages 1133–1136 (2001)Cite this article

In the last 30 years, information provided by cytogenetic analysis has become indispensable for the clinical management of patients with hematological malignancies. In acute myeloid leukemia (AML), the favorable prognostic subgroup is defined by the presence of leukemic blasts with t(15;17), t(8;21), or inv(16). The unfavorable cases are those with abnormalities involving more than two chromosomes, monosomy 5/5q− or 7/7q−, or rearrangements of the long arm of chromosome 3. The survival rate of this group is less than 20% at 5 years. These patients represent a considerable therapeutic challenge for whom no current treatment approach is satisfactory.1 The patients with a normal karyotype or cytogenetic abnormalities that are not included in these other categories are characterized as having an intermediate risk of relapse.1,2 In myelodysplastic syndromes (MDS), abnormalities of 7q or a complex karyotype are also unfavorable prognostic factors.3 Improvements in treatment of AML, t-AML and MDS have resulted in high complete remission rates even in patients with unfavorable cytogenetics; however, the majority of patients relapse.1,3 Therefore, further genetic studies redefining the patients included in the poor prognostic group are necessary.

In order to characterize the karyotype more precisely, we analyzed 18 samples from patients with myeloid malignancies and a complex karyotype using three different techniques: G-banding, fluorescence in situ hybridization (FISH), and spectral karyotyping (SKY). The SKY probe mixture and hybridization reagents were obtained from Applied Spectral Imaging (Carlsbad, CA, USA). Slides for spectral karyotyping were hybridized as previously described.4 For analysis of cases that had complex markers or non-obvious chromosome rearrangements, FISH experiments were performed using the appropriate painting or centromere-specific probes (Vysis, Downers Grove, IL, USA).

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Acknowledgements

This work was supported in part by a grant of the Departamento de Salud, Gobierno de Navarra, Spain (MDO), and by the National Cancer Institute (CA42557 and CA84405 to JDR) and the Spastic Paralysis Foundation, Illinois-Eastern Iowa District of Kiwanis International to JDR. We thank M Le Beau, D Roulston and M Isaacson for access to data management and for the patient karyotypic data.

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  1. Department of Genetics, University of Navarra, Pamplona, Spain

    MD Odero & MJ Calasanz

  2. Department of Medicine, Section of Hematology/Oncology, University of Chicago, Chicago, IL, USA

    KM Carlson & JD Rowley

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Odero, M., Carlson, K., Calasanz, M. et al. Further characterization of complex chromosomal rearrangements in myeloid malignancies: spectral karyotyping adds precision in defining abnormalities associated with poor prognosis. Leukemia 15, 1133–1136 (2001). https://doi.org/10.1038/sj.leu.2402158

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