title: Cytogenetic analysis of 280 patients with multiple myeloma and related disorders: primary breakpoints and clinical correlations.
abstract: Cytogenetic analysis of unstimulated short-term bone marrow cell cultures was performed on 280 patients with multiple myeloma and related disorders. In 65% of the cases, an additional short term B-cell stimulated culture was also examined. Chromosomally abnormal clones were found in 31% of the patients, 15% in Waldenström macroglobulinemia. 25% in monoclonal gammopathies, 33% in multiple myeloma, and 50% in plasma cell leukemia. Three primary chromosomal breakpoints were recurrently involved: 14q32, 16q22, and 22q11. Structural rearrangements of chromosome 1 were the most frequent (26% of the abnormal cases), but always as a secondary change. Rearrangements of band 14q32 were found in 22% of the abnormal cases. Among the multiple myeloma patients who showed an abnormal karyotype, 33 (46%) were hyperdiploid, most frequently, with 52-56 chromosomes, 29 patients (40%) were pseudodiploid, and the remaining 12 cases (14%) were hypodiploid. A highly significant relation was observed between the presence of an abnormal karyotype and the following clinical parameters: stage III (P = 0.0001), bone marrow plasma cell infiltration greater than 30% (P = 0.0001), presence of bone lesions (P = 0.0009), and beta 2-microglobulin levels greater than 4 mg/L (P = 0.0001).
authors.affiliation: Department of Genetics, University of Navarra, Pamplona, Spain.
authors.forename: M J
authors.initials: MJ
authors.lastname: Calasanz
authors.forename: J C
authors.initials: JC
authors.lastname: Cigudosa
authors.forename: M D
authors.initials: MD
authors.lastname: Odero
authors.forename: C
authors.initials: C
authors.lastname: Ferreira
authors.forename: M T
authors.initials: MT
authors.lastname: Ardanaz
authors.forename: A
authors.initials: A
authors.lastname: Fraile
authors.forename: J L
authors.initials: JL
authors.lastname: Carrasco
authors.forename: F
authors.initials: F
authors.lastname: Solé
authors.forename: B
authors.initials: B
authors.lastname: Cuesta
authors.forename: A
authors.initials: A
authors.lastname: Gullón
mesh_terms: D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002873:Chromosome Fragility; D006801:Humans; D007621:Karyotyping; D007952:Leukemia, Plasma Cell / Q000235:genetics; D009101:Multiple Myeloma / Q000235:genetics*; D014407:Tumor Cells, Cultured; D008258:Waldenstrom Macroglobulinemia / Q000235:genetics