三阴乳腺癌中MYC和CSMD1基因拷贝数变异与临床病理特征的相关性

Clinicopathological correlation of MYC and CSMD1 gene copy number variation with clinicopathological characterstics in triple negative breast cancer

目的在三阴乳腺癌组织中,分析MYC和CSMD1的基因拷贝数变异与患者临床病理特征的相关性。方法从肿瘤基因组图谱数据库(TCGA),获得乳腺癌的全基因组拷贝数变异数据和临床病理数据。利用GISTIC2.0软件分析肿瘤组织中全基因组拷贝数变异情况,并用IGV软件分析并可视化热点基因的拷贝数变异情况。收集整理108例三阴乳腺癌患者样品及信息,利用荧光定量PCR检测肿瘤组织中MYC和CSMD1基因拷贝数变异,并分析其与患者临床病理特征的相关性。结果全基因组拷贝数变异分析发现,在三阴乳腺癌组织中,染色体8q24.21区段扩增最为显著而8p23.2区段缺失最为显著,其中8q24.21区段的扩增热点为MYC基因,而8p23.2区段缺失热点为CSMD1基因。在TCGA的TNBC病例中,MYC基因的扩增比例为83.0%,CSMD1基因的缺失为67.1%。在江门市中心医院的TNBC病例中,MYC基因的扩增比例为88.9%,CSMD1基因的缺失为58.3%;然而,MYC的扩增或CSMD1的缺失与患者的年龄、病理类型、T分级、N分级、M分级及临床病理分期无关(P>0.05)。结论 TNBC组织中有显著的MYC扩增和CSMD1缺失情况,是TNBC较为普遍的分子特征,但两者的拷贝数变异与TNBC临床病理特征无关。

Objective To investigate the correlation between copy number variation(CNV)of MYC and CSMD1 gene and clinicopathological characteristics of patients with triple negative breast cancer(TNBC).Methods Genome-wide CNV data and clinicopathological characteristics data for breast cancer were obtained from The Cancer Genome Atlas(TCGA).GISTIC 2.0 software was used to analyze the whole genome CNV in tumor tissues,and IGV software was used to analyze and visualize the CNV of hot genes.The samples and clinical data of 108 breast cancer patients were collected,and the CNV of MYC and CSMD1 genes in tumor tissues was detected by q-PCR.The correlation between them and the clinicopathological characteristics of the patients was analyzed.Results Genome-wide CNV analysis revealed that in the TNBC tissues,the 8 q24.21 segment amplification was the most significant and the 8 p23.2 segment deletion was the most significant,in which the amplification hot spot of 8 q24.21 segment was in MYC gene and the 8 p23.2 segment deletion hot spot was in CSMD1 gene.In TNBC cases of TCGA,the amplification ratio of MYC gene was 83.0%,and the deletion of CSMD1 gene was 67.1%.In TNBC cases in our hospital,the amplification ratio of MYC gene was 88.9%,and the deletion of CSMD1 gene was 58.3%.However,MYC amplification or CSMD1 deletion was not associated with age,pathological type,T stage,N stage,M stage,or total clinical stage(P>0.05).Conclusion There are significant MYC amplification and CSMD1 deletion in TNBC tissues,but the CNV of both is not correlated to clinicopathological features.