[Gene Mutation and Overexpression of Newly Diagnosed Multiple Myeloma Patients].

To analyze the characteristics of gene mutation and overexpression in newly diagnosed multiple myeloma (NDMM) patients.Bone marrow cells from 208 NDMM patients were collected and analyzed. The gene mutation of 28 genes and overexpression of 6 genes was detected by DNA sequencing. Chromosome structure abnormalities were detected by fluorescence in situ hybridization (FISH).Gene mutations were detected in 61 (29.33%) NDMM patients. Some mutations occurred in 5 or more cases, such as NRAS, PRDM1, FAM46C, MYC, CCND1, LTB, DIS3, KRAS, and CRBN. Overexpression of six genes (CCND1, CCND3, BCL-2, CCND2, FGFR3, and MYC) were detected in 83 (39.9%) patients, and cell cycle regulation gene was the most common. Single nucleotide polymorphisms (SNP) changes were detected in 169 (81.25%) patients, the TP53 P72R gene SNP (70.17%) was the most common. Abnormality in chromosome structure was correlated to gene overexpression. Compared to the patients with normal chromosome structure, patients with 14q32 deletion showed higher proportion of CCND1 overexpression. Similarly, patients with 13q14 deletion showed higher proportion of FGFR3 overexpression, whereas patients with 1q21 amplification showed higher proportion of CCND2, BCL-2 and FGFR3 overexpression.There are multiple gene mutations and overexpression in NDMM. However, there is no dominated single mutation or overexpression of genes. The most common gene mutations are those in the RAS/MAPK pathway and the genes of cyclin family CCND are overexpression.初治多发性骨髓瘤患者的基因突变及表达异常.分析初治多发性骨髓瘤（NDMM）患者常见基因的突变及表达异常.取208例NDMM患者的骨髓细胞，用DNA测序法检测6种基因的表达水平及28种基因的突变状态。应用FISH法检测多发性骨髓瘤常见的细胞遗传学异常.61例（29.33%）NDMM患者检测到基因突变，≥5例患者发生突变的基因包括NRAS、PRDM1、FAM46C、MYC、CCND1、LTB、DIS3、KRAS和CRBN。83例（39.90%）患者检测到6种基因的过表达，以细胞周期调节基因的过表达为主，分别是CCND1、CCND3、BCL-2、CCND2 FGFR3和MYC。169例（81.25%）患者检测到基因单核苷酸多态性改变，主要为TP53基因P72R多态性 (70.17%)。染色体结构异常与基因表达异常有一定相关性，与染色体结构正常者相比较，14q32缺失患者中CCND1基因过表达比例更高，13q14缺失患者中FGFR3过表达比例更高，而1q21扩增患者中CCND2、BCL-2、FGFR3基因过表达比例更高.NDMM患者存在多种基因突变和表达异常，但是缺乏主要的单个基因突变或表达异常。累及RAS/MAPK通路的基因突变及细胞周期蛋白CCND的过表达是常见的基因异常.