Progress in the identification of gene mutations involved in multiple myeloma

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Ying Hu,1 Wenming Chen,2 Jingbo Wang11Department of Hematology, Aerospace Central Hospital of Peking University, Beijing, People’s Republic of China; 2Department of Hematology, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, People’s Republic of ChinaAbstract: 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. IRF4is 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

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