Molecular pathogenesis of multiple myeloma: basic and clinical updates

Int J Hematol. 2013 Mar;97(3):313-23. doi: 10.1007/s12185-013-1291-2. Epub 2013 Feb 28.

Abstract

Multiple myeloma is divided into two distinct genetic subtypes based on chromosome content. Hyperdiploid myeloma is characterized by multiple trisomies of chromosomes 3, 5, 7, 9 11, 15, 19 and 21, and lacks recurrent immunoglobulin gene translocations. Non-hyperdiploid myeloma in contrast is characterized by chromosome translocations t(4;14), t(14;16), t(14;20), t(6;14) and t(11;14). A unifying event in the pathogenesis of multiple myeloma is the dysregulated expression of a cyclin D gene, either directly by juxtaposition to an immunoglobulin enhancer, as a result of ectopic expression of a MAF family transcription factor, or indirectly by as yet unidentified mechanisms. Secondary genetic events include rearrangements of MYC, activating mutations of NRAS, KRAS or BRAF, a promiscuous array of mutations that activate NFkB and deletions of 17p. Among the poor-risk genetic features are t(4;14), t(14;16), t(14;20), del 17p and gains of 1q. Available evidence supports the use of a risk-stratified approach to the treatment of patients with multiple myeloma, with the early and prolonged use of bortezomib particularly in patients with t(4;14) and del 17p.

Publication types

  • Review

MeSH terms

  • Animals
  • Antineoplastic Agents / therapeutic use
  • Boronic Acids / therapeutic use
  • Bortezomib
  • Cell Proliferation
  • Chromosomes, Human* / genetics
  • Chromosomes, Human* / metabolism
  • Cyclin D / biosynthesis
  • Cyclin D / genetics
  • Disease-Free Survival
  • Gene Expression Regulation, Neoplastic / genetics
  • Humans
  • Immunoglobulin M / genetics
  • Immunoglobulin M / metabolism
  • Incidence
  • Multiple Myeloma* / drug therapy
  • Multiple Myeloma* / genetics
  • Multiple Myeloma* / metabolism
  • Multiple Myeloma* / mortality
  • Multiple Myeloma* / pathology
  • Proto-Oncogene Proteins B-raf / biosynthesis
  • Proto-Oncogene Proteins B-raf / genetics
  • Proto-Oncogene Proteins c-myc / biosynthesis
  • Proto-Oncogene Proteins c-myc / genetics
  • Pyrazines / therapeutic use
  • Risk Factors
  • Sex Factors
  • Somatic Hypermutation, Immunoglobulin / genetics
  • Survival Rate
  • Translocation, Genetic*
  • Trisomy*
  • United States / epidemiology
  • ras Proteins / biosynthesis
  • ras Proteins / genetics

Substances

  • Antineoplastic Agents
  • Boronic Acids
  • Cyclin D
  • Immunoglobulin M
  • MYC protein, human
  • Proto-Oncogene Proteins c-myc
  • Pyrazines
  • Bortezomib
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • ras Proteins