Genetic associations with thalidomide mediated venous thrombotic events in myeloma identified using targeted genotyping

When treating myeloma patients with thalidomide, there is a possible risk of venous thromboembolism that can follow with a risk of pulmonary embolism. “To test genetic variation associated with treatment related VTE in patient peripheral blood DNA,” this study uses a “custom-built molecular inversion probe (MIP)-based single nucleotide polymorphism (SNP) chip containing 3404 SNPs.”. Three large clinical trials were used to obtain patients and controls:

  • Medical Research Council (MRC) Myeloma IX
  • Hovon-50
  • Eastern Cooperative Oncology Group (ECOG) EA100

The results of these series of events determined “SNPs associated with thalidomide-related VTE were enriched in genes and pathways important in drug transport/metabolism, DNA repair, and cytokine balance.” SNPs can impact the tumor and its surrounding area.


Johnson DC, Corthals S, Ramos C, Hoering A, Cocks K, Dickens NJ, Haessler J, Goldschmidt H, Child JA, Bell SE, Jackson G, Baris D, Rajkumar SV, Davies FE, Durie BG, Crowley J, Sonneveld P, Van Ness B, Morgan GJ

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