Abstract: Sequencing studies have been used to determine a spectrum of multiple myeloma (MM) mutations. Mutation of certain genes, including KRAS , NRAS , TP53 , FAM46C , DIS3  and BRAF , have a high recurrence rate and may play important roles in the pathogenesis, progression and prognosis of MM. Mutations in DIS3 , which encodes a highly conserved RNA exonuclease, lead to loss of function. The expression of FAM46C  is highly correlated with the expression of ribosomal protein, but the exact function of FAM46C  mutation is unclear. There are mutants of IRF4 , which is considered an MM survival factor. Mutations in the gene coding for the DNA damage-binding protein (DDB1 ) may affect interactions with CUL4A , which is part of the cereblon (CRBN ) ubiquitin ligase complex. IRF4  is part of the complex, which binds to DNA. These findings might explain the resistance to immunomodulatory. TP53  deletion or mutation is often present in B-cell malignancies and is associated with low response rates. Myeloma pathogenic mutations in ATM have been found in adult lymphatic tumors. XBP1  and PSMB5  mutations may be related to bortezomib resistance. Multiple gene mutations (KRAS , NRAS  and BRAF ) involved in the same pathway were found a single patient. Identification of driver gene mutations has brought great hope to the field of individualized, targeted medicine for MM.
Keywords: multiple myeloma, cytogenetic abnormalities, gene mutations