title: High detection rate of clinically relevant genomic abnormalities in plasma cells enriched from patients with multiple myeloma.
abstract: Multiple myeloma is a heterogeneous disease, which is characterized by the occurrence of specific genomic abnormalities that are both of diagnostic and prognostic relevance. Since the detection of these abnormalities through molecular-genetic techniques is hampered by the overall low percentage of plasma cells present in primary bone marrow aspirates, we assessed the efficacy of these techniques in enriched plasma cell fractions from 61 multiple myeloma patients. Using interphase FISH, genomic abnormalities could be detected in 96% of the enriched samples as compared to 61% in the cultured whole bone marrow samples. We also found that microarray-based genomic profiling of enriched plasma samples facilitates the detection of additional, possibly clinically relevant, genomic abnormalities. We conclude that the genomic delineation of enriched plasma cells from multiple myeloma patients results in a significantly increased detection rate of clinically relevant genomic abnormalities. In order to facilitate molecular-genetic data interpretation, we recommend morphological assessment of plasma cell purity after enrichment.
authors: Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands. m.stevens@gen.ucmn.nl
authors: Marian
authors: M
authors: Stevens-Kroef
authors: Daniel Olde
authors: DO
authors: Weghuis
authors: Sandra
authors: S
authors: Croockewit
authors: Leo
authors: L
authors: Derksen
authors: Jeroen
authors: J
authors: Hooijer
authors: Najat
authors: N
authors: Elidrissi-Zaynoun
authors: Angelique
authors: A
authors: Siepman
authors: Annet
authors: A
authors: Simons
authors: Ad Geurts van
authors: AG
authors: Kessel
mesh_terms: D001854:Bone Marrow Cells / Q000166:cytology; D002469:Cell Separation; D002869:Chromosome Aberrations; D005260:Female; D005820:Genetic Testing; D023281:Genomics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase / Q000235:genetics; D008297:Male; D008998:Monoclonal Gammopathy of Undetermined Significance / Q000235:genetics; D009101:Multiple Myeloma / Q000175:diagnosis / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D010950:Plasma Cells / Q000648:ultrastructure*; D012008:Recurrence; D053668:Syndecan-1
chemical_list: C508241:SDC1 protein, human; D053668:Syndecan-1