Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.

3 , 4 , 5 We recently demonstrated a highly significant enrichment of genomic CRBN aberrations, and loss of the 2q37 region, which houses COP9 signalosome members following acquisition of lenalidomide or pomalidomide resistance (designated as LENR and POMR, respectively). 6 , 7 Gene expression signatures have also been shown to transition to those that indicate higher risk as disease progresses. 8 Here, we present a genome-wide unsupervised analysis of somatic mutations, copy number aberrations (CNAs), and structural variants (SVs) along with mutational signatures in a set of 418 rrMM WGS samples from 386 patients.

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A positive trend in prevalence was observed for 16 driver genes ( Figure 3 C), among which TSGs were enriched (5.5-fold vs oncogenes).

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We also observed a positive cline of recurrence of LOH events at 1p and 14q but they did not reach statistical significance.

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