Which genetic mutations are indicators of high risk multiple myeloma (MM)?

Updated: Jul 15, 2019
  • Author: Dhaval Shah, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

The 2009 International Myeloma Workshop concluded that detection of any cytogenic abnormality suggests higher-risk disease, including chromosomal 13 or 13q deletion, t(4;14), and del17p and fluorescence in situ hybridization detection of t(4;14), t(14;16), and del17p. [32] Fluorescence in situ hybridization detection of 13q deletion alone is not considered a high-risk feature. International Staging System stages II and II and high serum beta(2)-microglobulin levels are suggestive of higher risk disease.

A study by Klein et al determined that the prognostic significance of t(4;14) may be eliminated or lessened among patients who receive lenalidomide and dexamethasone; however, del(17p13) and +1q21 are still associated with a dismal overall survival. [33] A study by Neben et al concludes that long-term administration of bortezomib in patients with del(17p13) may result in better overall and progression-free survival. [34]


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