Fig. 1. Mutational profile of the 57 patients with high-risk smoldering myeloma and ultrahigh-risk smoldering myeloma.

Both genomic and clinical data were integrated for each patient, represented by individual columns. Single nucleotide variants and indels are listed per gene, grouped based on the corresponding molecular pathway. Genes that do not belong to specific pathways were included in the category “other pathways”. Multihit mutations (i.e. several mutations in the same gene) are represented with an asterisk. The 8 structural variants evaluated by FISH were also incorporated as an additional molecular group in light green (positive), grey (negative) or white (not tested). On the top, the tumor mutation burden combining NGS and FISH is plotted, distinguishing between molecular pathways. On the lower side of the figure, diagnosis, MRD dynamics, biochemical progression, clinical progression and death events are color-coded. On the right side of the figure, the global percentage of each genomic event and the corresponding absolute number of altered patients are represented. bPFS biochemical progression-free survival, HR SMM high-risk smoldering myeloma, MAPK mitogen-activated protein kinase, MRD minimal residual disease, NF-κB nuclear factor-κB, TMB tumor mutation burden (total number of events per patient), transl translocation, UHR SMM ultrahigh risk smoldering myeloma.