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Molecular cytogenic analysis of plasma cells in patients with multiple myeloma


Authors: J. Balcárková 1;  K. Procházková 1;  V. Ščudla 2;  M. Holzerová 1;  J. Bačovský 2;  M. Zemanová 2;  H. Pospíšilová 1;  J. Hanzlíková 1;  J. Kropáčková 1;  I. Prekopová 1;  T. Pika 2;  J. Minařík 2;  K. Indrák 1;  M. Jarošová 1
Authors‘ workplace: Hemato-onkologická klinika FN a LF UP Olomouc 1;  III. interní klinika FN a LF UP Olomouc 2
Published in: Transfuze Hematol. dnes,13, 2007, No. 4, p. 176-182.
Category: Comprehensive Reports, Original Papers, Case Reports

Overview

Multiple myeloma (MM) is a B-cell neoplasia characterized by the proliferation and accumulation of clonal plasma cells (myeloma cells) in bone marrow. Although the cause of the origin and development of MM are not well under-stood, genetic studies revealed that chromosomal aberrations play central role in pathogenesis and prognosis of patients with MM. We present the results of conventional cytogenetic and molecular cytogenetic analysis of 100 patients with MM. Using conventional cytogenetics chromosomal changes were detected in 23 (23 %) patients, in 8 patients complex karyotype was found. Using FICTION method cytogenetic changes were identified in 97 (97 %) patients. Deletion of RB1 gene was the most common aberration detected in 53 (53 %) patients, translocations involving IgH gene were identified in 25 (25 %) patients. The most common trisomy involved chromosomes 15 and 9. Cytogenetic and molecular cytogenetic analysis of 100 patient with MM confirmed high frequency of chromosomal abnormalities in advanced stages of the disease. Prognostic relevance of particular chromosomal abnormalities for overall survival cannot be evaluated due to short time of follow-up. In our study, the presence of complex karyotype was associated with a significantly shorter overall survival rate.

Key words:
multiple myeloma, FICTION, RB1 deletion, IgH rearrangement, trisomy


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