Multiple myeloma (MM) measurable residual disease (MRD) persisting after treatment is an adverse prognostic factor for progression-free survival (PFS) and overall survival. Genomic mutations occurring in the remaining clonal aberrant plasma cells (A-PCs) are linked to the development of drug resistance and disease relapse.
Thus, personalized treatment based on the genomic profile of MRD could be highly beneficial and ultimately increase patients' survival. However, although large-scale sequencing studies have characterized the genome of many malignancies, including MM, the genomic mutations present in MM MRD exist at the beginning of investigation.
Here, we set up an exome sequencing analysis to identify genomic mutations characteristic for MM MRD and explore if they could mediate drug response, resistance, or disease progression.