The molecular classification of multiple myeloma

Blood. 2006 Sep 15;108(6):2020-8. doi: 10.1182/blood-2005-11-013458. Epub 2006 May 25.

Abstract

To better define the molecular basis of multiple myeloma (MM), we performed unsupervised hierarchic clustering of mRNA expression profiles in CD138-enriched plasma cells from 414 newly diagnosed patients who went on to receive high-dose therapy and tandem stem cell transplants. Seven disease subtypes were validated that were strongly influenced by known genetic lesions, such as c-MAF- and MAFB-, CCND1- and CCND3-, and MMSET-activating translocations and hyperdiploidy. Indicative of the deregulation of common pathways by gene orthologs, common gene signatures were observed in cases with c-MAF and MAFB activation and CCND1 and CCND3 activation, the latter consisting of 2 subgroups, one characterized by expression of the early B-cell markers CD20 and PAX5. A low incidence of focal bone disease distinguished one and increased expression of proliferation-associated genes of another novel subgroup. Comprising varying fractions of each of the other 6 subgroups, the proliferation subgroup dominated at relapse, suggesting that this signature is linked to disease progression. Proliferation and MMSET-spike groups were characterized by significant overexpression of genes mapping to chromosome 1q, and both exhibited a poor prognosis relative to the other groups. A subset of cases with a predominating myeloid gene expression signature, excluded from the profiling analyses, had more favorable baseline characteristics and superior prognosis to those lacking this signature.

Publication types

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

MeSH terms

  • Chromosome Mapping
  • Cluster Analysis
  • Cyclin D
  • Cyclins / genetics
  • Data Interpretation, Statistical
  • Gene Expression Profiling / statistics & numerical data
  • Humans
  • Membrane Glycoproteins / genetics
  • Multiple Myeloma / classification*
  • Multiple Myeloma / genetics*
  • Multiple Myeloma / immunology
  • Oligonucleotide Array Sequence Analysis / statistics & numerical data
  • Plasma Cells / immunology
  • Prognosis
  • Proteoglycans / genetics
  • RNA, Messenger / genetics
  • RNA, Neoplasm / genetics
  • Syndecan-1
  • Syndecans

Substances

  • Cyclin D
  • Cyclins
  • Membrane Glycoproteins
  • Proteoglycans
  • RNA, Messenger
  • RNA, Neoplasm
  • SDC1 protein, human
  • Syndecan-1
  • Syndecans