Progress in the Identification of Gene Mutations Involved in Multiple Myeloma

Sequencing studies have been used to determine a spectrum of multiple myeloma (MM) mutations. Mutation of certain genes, including and , have a high recurrence rate and may play important roles in the pathogenesis, progression and prognosis of MM. Mutations in , which encodes a highly conserved RNA exonuclease, lead to loss of function. The expression of is highly correlated with the expression of ribosomal protein, but the exact function of mutation is unclear. There are mutants of , which is considered an MM survival factor. Mutations in the gene coding for the DNA damage-binding protein () may affect interactions with , which is part of the cereblon () ubiquitin ligase complex. is part of the complex, which binds to DNA. These findings might explain the resistance to immunomodulatory. deletion or mutation is often present in B-cell malignancies and is associated with low response rates. Myeloma pathogenic mutations in have been found in adult lymphatic tumors. and mutations may be related to bortezomib resistance. Multiple gene mutations ( and ) 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.