Abstract for presentation at 11th International Congress of Human Genetics

Cytologic, cytogenetic and molecular cytogenetic aberrations in plasma cells of patients with multiple myeloma (MM)

  • Barbara Busert, Institute of Human Genetics, University Bonn, Germany
  • Daniela Kind, Institute of Human Genetics, University Bonn, Germany
  • Corinna Hahn-Ast, Department of Internal Medicine I, University Bonn, Germany
  • Axel Glasmacher, Department of Internal Medicine I, University Bonn, Germany
  • Gesa Schwanitz, Germany
  • Ingo Schmidt-Wolf, Department of Internal Medicine I, University Bonn, Germany
  • Ursula Paetzold, Institute of Human Genetics, University Bonn, Germany

    • Investigations were carried out in bone marrow samples of 81 patients, two of them were analysed twice. In 84% of the samples a separation of plasma cells was performed and the original samples were compared to separated plasma cells.
    The vitality of the separated plasma cells was confirmed via the vital dye acridine orange. Karyotype analyses were performed. The constitutional karyotype was normal in 80 out of 81 patients. One patient showed an additional constitutive marker chromosome der(22). The composite karyotype of the plasma cells was delineated. In the next step CGH was performed and the results were compared to the corresponding karyotype. The CGH profile revealed abnormal cells in 95% of the cases. The results showed characteristic gains and loses. Cells in interphase were then analysed by FISH. The following probes were applied: CEP 3, 7, 9, 11, LSI 13 (13q14), LSI 11 (11q23), LSI IGH (14q32) and LSIp53 (17p13.1). Results in the original samples and in the separated plasma cells were then compared. The plasma cells of all patients showed different numerical and structural changes which increased with myeloma stage. Metaphase FISH with WCP probes was then carried out to further analyse uncommon CGH results. Small partial duplications in mosaic were observed. Tumor therapy-induced changes in the karyotype were excluded through immunophenotyping of the plasma cells. The cytogenetic and molecular cytogenetic findings were compared in the context of different clinical parameters and the therapeutic scheme.

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