A variety of genetic alterations are involved in the initiation and progression of multiple myeloma (MM). Such driver events include translocations involving MYC, activating mutations related to MAPK and NF-κB pathways as well as inactivating mutations and deletions of TP53. Recent advances in genomic analyses have not only reconfirmed the importance of these driver events but also have identified novel gene mutations in MM. Importantly, DIS3 has been identified as the third most mutated genes in MM, and loss of heterozygosity at chromosome 13q results in deletion of one allele of DIS3, which is observed in approximately 40% of MM patients. However, the pathological significance of these events is poorly understood. Here I review the characteristics of DIS3 mutations in MM and the molecular functions of DIS3, and discuss the biological significance of DIS3 mutations/deletions in MM.
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