Utilizing next-generation sequencing in the management of multiple myeloma

Expert Rev Mol Diagn. 2017 Jul;17(7):653-663. doi: 10.1080/14737159.2017.1332996. Epub 2017 May 26.


Multiple myeloma (MM) is a bone marrow plasma cell malignancy characterized by wide clinical presentation and heterogeneous genetic background. Despite the recent advances in patient outcome, new markers are needed for improving risk prediction and choice of a more appropriate therapy. In this perspective, the genetic makeup of MM cells is being better characterized by means of next-generation sequencing (NGS) technologies. Areas covered: The authors discuss how the application of NGS has improved our knowledge of MM biology by discovering its mutational landscape, identifying the operating mutational processes, and revealing the clonal composition of tumors and the dynamics of its evolution; and how this can have important clinical implications in terms of prognostication, therapeutic choices, and response assessment. Finally, the authors provide a quick outlook of future applications of these technologies that could help in the management of the disease in the next years. Expert commentary: The clinical exploitation of NGS-based characterization of MM patients has as its ultimate goal the precision medicine. Considerable obstacles to its implementation in myeloma management exist; therefore, the concerted effort of all involved stakeholders is mandatory to ensure that it will become a reality in routine clinical practice in the next future.

Keywords: Next-generation sequencing; plasma cell dyscrasias; precision medicine; prognostication; response assessment; somatic mutations; tumor evolution.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Exome
  • Genome, Human
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Multiple Myeloma / genetics*
  • Multiple Myeloma / therapy
  • Mutation
  • Prognosis