Impact of genetic abnormalities on the prognoses and clinical parameters of patients with multiple myeloma

Ann Lab Med. 2013 Jul;33(4):248-54. doi: 10.3343/alm.2013.33.4.248. Epub 2013 Jun 24.

Abstract

Background: We reviewed patients with multiple myeloma (MM) in order to assess the incidence of genetic abnormalities and their associations with clinical parameters, risk groups, and prognosis.

Methods: A total of 130 patients with MM were enrolled. The incidences of genetic abnormalities were determined in all patients. The relationships of the genetic abnormalities and clinical parameters were investigated. In addition, a survival analysis was performed.

Results: Abnormal karyotypes were detected in 42.3% (N=55) of the patients, and this was increased to 63.1% (N=82) after including the results determined with interphase FISH. Hypodiploidy was observed in 7.7% (N=10) of the patients, and all were included in the group with complex karyotypes (30.8%, N=40). The 14q32 rearrangements were detected in 29.2% (N=38) of the patients, and these most commonly included t(11;14), which was followed by t(4;14) and t(14;16) (16.2%, 11.5%, and 0.8%, respectively). Abnormal karyotypes and complex karyotypes were associated with disease progression markers, including low hemoglobin levels, low platelet counts, high plasma cell burden, high β2-microglobulin, and high international staging system stages. A high free light chain (FLC) ratio and FLC difference were associated with abnormal karyotypes, complex karyotypes, and higher plasma cell burden. Hypodiploidy and low platelet counts were significant independent prognostic factors and were more important in patient outcome than any single abnormality.

Conclusions: Genetic abnormalities were associated with disease progression markers and prognosis of MM patients.

Keywords: Cytogenetics; Fluorescence in situ hybridization; Free light chain; Multiple myeloma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 14
  • Female
  • Hemoglobins / analysis
  • Humans
  • Karyotyping
  • Male
  • Middle Aged
  • Multiple Myeloma / diagnosis*
  • Multiple Myeloma / genetics*
  • Multiple Myeloma / mortality
  • Neoplasm Staging
  • Platelet Count
  • Prognosis
  • Proportional Hazards Models
  • Survival Analysis
  • Translocation, Genetic

Substances

  • Hemoglobins