TENT5C mutation

Importantly, novel potential predictors of treatment resistance were identified: NRAS mutations and the co-occurrence of t(4;14) plus FGFR3 mutations were associated with an increased risk of biological progression. In conclusion, we have carried out for the first time a molecular characterization of HR SMM patients treated with an intensive regimen, identifying genomic predictors of poor outcomes in this setting.

Altogether, our data disclose an unexpected molecular network, centered on TENT5C, regulating the trade-off between Ig synthesis and cell growth that may be exploited to design new therapeutic strategies aiming at altering PC protein homeostasis, eliminating the pathogenic clone, and improving the efficacy of current therapeutic options.

Using this hybrid-capture panel, we profiled 214 plasma, germline and tumor DNA samples from 35 patients including 15 patients undergoing idecabtagene vicleucel (ide-cel) therapy... Assessment of ctDNA has significant potential utility in MM, as it allows for mutational genotyping, quantification of disease burden, and identification of tumor clonal evolution. Lower levels of ctDNA during treatment and its clearance are associated with improved outcomes, while detection of emergent alterations after targeted therapies may inform subsequent treatment strategies. Use of ctDNA may improve response and relapse prediction and reveal mechanisms of therapy resistance.

FAM46C is a prokaryotic-like PAP with preference for A-rich RNA substrates, and showed distinct enzymatic efficiency with its homolog FAM46B. The MM-related missense mutations of FAM46C lead to various structural and biochemical outcomes to the protein.