A validated gene expression model of high-risk multiple myeloma is defined by deregulated expression of genes mapping to chromosome 1

Blood. 2007 Mar 15;109(6):2276-84. doi: 10.1182/blood-2006-07-038430. Epub 2006 Nov 14.

Abstract

To molecularly define high-risk disease, we performed microarray analysis on tumor cells from 532 newly diagnosed patients with multiple myeloma (MM) treated on 2 separate protocols. Using log-rank tests of expression quartiles, 70 genes, 30% mapping to chromosome 1 (P < .001), were linked to early disease-related death. Importantly, most up-regulated genes mapped to chromosome 1q, and down-regulated genes mapped to chromosome 1p. The ratio of mean expression levels of up-regulated to down-regulated genes defined a high-risk score present in 13% of patients with shorter durations of complete remission, event-free survival, and overall survival (training set: hazard ratio [HR], 5.16; P < .001; test cohort: HR, 4.75; P < .001). The high-risk score also was an independent predictor of outcome endpoints in multivariate analysis (P < .001) that included the International Staging System and high-risk translocations. In a comparison of paired baseline and relapse samples, the high-risk score frequency rose to 76% at relapse and predicted short postrelapse survival (P < .05). Multivariate discriminant analysis revealed that a 17-gene subset could predict outcome as well as the 70-gene model. Our data suggest that altered transcriptional regulation of genes mapping to chromosome 1 may contribute to disease progression, and that expression profiling can be used to identify high-risk disease and guide therapeutic interventions.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1 / genetics*
  • Cohort Studies
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic*
  • Humans
  • Models, Genetic*
  • Multigene Family
  • Multiple Myeloma / epidemiology
  • Multiple Myeloma / genetics*
  • Multiple Myeloma / pathology*
  • Recurrence
  • Risk Factors
  • Survival Rate