Blood Journal
Leading the way in experimental and clinical research in hematology

Uncovering the biology of multiple myeloma among African Americans: a comprehensive genomics approach

  1. Angela Baker1,
  2. Esteban Braggio2,
  3. Susanna Jacobus3,
  4. Sungwon Jung1,
  5. Dirk Larson4,
  6. Terry Therneau4,
  7. Angela Dispenzieri4,
  8. Scott A. Van Wier2,
  9. Gregory Ahmann2,
  10. Joan Levy5,
  11. Louise Perkins5,
  12. Seungchan Kim1,
  13. Kimberly Henderson4,
  14. David Vesole6,
  15. S. Vincent Rajkumar4,
  16. Diane F. Jelinek4,
  17. John Carpten1, and
  18. Rafael Fonseca2,*
  1. 1 Translational Genomics Research Institute, Phoenix, AZ, United States;
  2. 2 Mayo Clinic in Arizona, Scottsdale, AZ, United States;
  3. 3 Dana Farber Cancer Institute, Boston, MA, United States;
  4. 4 Mayo Clinic in Rochester, MN, United States;
  5. 5 Multiple Myeloma Research Foundation, Norwalk, CT, United States;
  6. 6 John Theurer Cancer Center at Hackensack University Medical Center, Hackensack, NJ, United States
  1. * Corresponding author; email: fonseca.rafael{at}

Key points

  • In this study, African American MM patients have a significantly lower frequency of IgH translocations than European American patients.


Epidemiological data have suggested that African Americans (AA) are twice as likely to be diagnosed with multiple myeloma (MM) as compared to European Americans (EA). Here, we have analyzed a set of cytogenetic and genomic data derived from AA and EA MM patients. We have compared the frequency of IgH translocations in a series of data from 115 AA patients from three studies and EA patients from the Eastern Cooperative Oncology Group (ECOG) studies E4A03 and E9487. We have also interrogated tumors from 45 AA and 196 EA MM patients for somatic copy number abnormalities associated with poor outcome. In addition, 35 AA and 178 EA patients were investigated for a transcriptional profile associated with high-risk disease. Overall, based on this cohort, genetic profiles were similar except for a significantly lower frequency of IgH translocations (40% vs. 52%; p=0.032) in AA patients. Frequency differences of somatic copy number aberrations were not significant after correction for multiple testing. There was also no significant difference in the frequency of high-risk disease based upon gene expression profiling. Our study represents the first comprehensive comparisons of the frequency and distribution of molecular alterations in MM tumors between AA and EA patients. (ECOG E4A03 is registered with, number NCT00098475. ECOG E9487 is a companion validation set to the ECOG study E9486 and is registered with the National Institutes of Health, National Cancer Institute, Clinical Trials (PDQ), number EST-9486.)

  • Submitted July 18, 2012.
  • Accepted December 30, 2012.