Chromosome abnormalities clustering and its implications for pathogenesis and prognosis in myeloma

C. S. Debes-Marun, G. W. Dewald, S. Bryant, E. Picken, R. Santana-Dávila, N. González-Paz, J. M. Winkler, R. A. Kyle, M. A. Gertz, T. E. Witzig, A. Dispenzieri, M. Q. Lacy, S. V. Rajkumar, J. A. Lust, P. R. Greipp, R. Fonseca

Research output: Contribution to journalArticlepeer-review

203 Scopus citations


The nonrandom recurrent nature of chromosome abnormalities in myeloma suggests a role for them in disease pathogenesis. We performed a careful cytogenetic analysis of patients with abnormal karyotypes (n = 254), to discern patterns of association, search for novel abnormalities and elucidate clinical implications. Patients with karyotypic abnormalities suggestive of myelodysplasia/acute leukemia were excluded. In this study we compared survival by abnormality only between patients with abnormal karyotypes. Patients with abnormalities were more likely to have features of aggressive disease as compared to all other patients without abnormalities entered into the myeloma database (lower hemoglobin, higher β2-microglobulin, labeling-index and plasmocytosis; all P < 0.0001). Several groups of patients could be readily identified; hypodiploid (22%), pseudodiploid (36%), hyperdiploid (31%) and near-tetraploid (11%). Clustering associations were seen among several trisomies and monosomy of chromosome 13 and 14. Several monosomies (-2, -3, -13, -14 and -19), 1p translocations/deletions, and hypodiploidy were associated with a significantly shorter survival. Trisomy of chromosome 13 was rare (<2%). Even among patients with abnormal karyotypes, specific chromosome abnormalities can impart biologic variability in myeloma, including several monosomies, hypodiploidy and abnormalities of 1p.

Original languageEnglish (US)
Pages (from-to)427-436
Number of pages10
Issue number2
StatePublished - Feb 1 2003


  • Chromosome deletion
  • Multiple myeloma
  • Ploidy
  • Prognosis Translocation (genetics)

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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