Genetics of multiple myeloma

Research output: Chapter in Book/Report/Conference proceedingChapter


Multiple myeloma (MM) is a heterogeneous disease that utilizes genetic aberrations of the clonal plasma cells as one method to define its major subtypes. While specific genetic changes do not contribute to the definition of the diagnosis of MM, these changes have prognostic significance that allows division into different risk groups and subsequently allows different treatment guidelines based on risk group. Drugs like the proteasome inhibitor bortezomib have shown promise in the treatment of the high-risk group, but further improved treatment options are needed to target this group with the worst prognosis. Currently, no marker or genetic alteration has a predictive value to treatment response, and research is ongoing to find such predictive markers which would be invaluable to determine treatment sequence or combination. Promising new studies are revealing the importance of microRNA abnormalities and epigenetic changes in MM. While FISH and cytogenetic analyses are the standard of genetic evaluation, they have significant limitations, and other methods, including gene expression analyses and genomic sequencing, are evolving and will likely replace current methods with time with improved sensitivity. This chapter intends to summarize critical genetic alterations in MM, review research with microRNA and epigenetic changes, and discuss upcoming methods for genomic analysis in MM.

Original languageEnglish (US)
Title of host publicationGenetic and Molecular Epidemiology of Multiple Myeloma
PublisherSpringer New York
Number of pages16
ISBN (Electronic)9781461446606
ISBN (Print)1461446597, 9781461446590
StatePublished - May 1 2013


  • Bortezomib
  • IMiD therapy
  • Multiple myeloma
  • clonal plasma cell
  • fluorescent in situ hybridization
  • gene expression profiling
  • genomic markers
  • microRNA
  • novel agents
  • prognostic factors
  • proteasome inhibitors
  • risk stratification

ASJC Scopus subject areas

  • General Medicine


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