摘要 目的比较各基因亚型乳腺癌间全基因组拷贝数变异(CNV)差异,分析各亚型中特异的基因CNV。方法在肿瘤基因组图谱(TCGA)的乳腺癌数据库中,利用AIMS软件进行基因分型(BasL型、Her2型、LumA型和LumB型),GISTIC2.0软件分析肿瘤组织中全基因组拷贝数变异情况。收集整理江门市中心医院(JMCH)324例浸润性乳腺癌患者信息与样品,利用荧光定量PCR检测肿瘤组织中ERBB2、TFDP1、MIR148B、CCND1、MDM2和MIR139基因拷贝数变异,对TCGA分析进行验证。结果BasL型乳腺癌的特点为13q34扩增和12q13.13缺失,Her2型中17q12显著扩增,LumB型的特点为12q15扩增和11q13.4缺失,LumA型则无特异性扩增或缺失的染色体区段。BasL型中TFDP1扩增或MIR148B缺失的比例为57.8%(TCGA)和71.4%(JMCH),显著高于其余亚型(P<0.001);Her2型中ERBB2扩增的比例为55.2%(TCGA)和86.7%(JMCH),比例显著高于其余亚型(P<0.001);LumB型中CCND1或MDM2扩增或MIR139缺失的比例为47.6%(TCGA)和61.8%(JMCH),显著高于其余亚型(P<0.05)。结论在乳腺癌基因组CNV层面上,Her2型中ERBB2扩增,BasL型中TFDP1扩增或MIR148B缺失,LumB型中CCND1或MDM2扩增或MIR139缺失,但LumA型缺少明确的CNV特征。 Objective To compare genomic copy number variations(CNVs)among different subtypes of breast cancer and analyze specific CNVs in each subtype.Methods AIMS software was used for genotype breast cancer(BasL,Her2,LumA and LumB),and GISTIC2.0 software was used to analyze genome-wide CNVs in tumor tissues from TCGA.We collected and analyzed the information and samples of 324 cases of invasive breast cancer admitted to Jiangmen Central Hospital(JMCH).Fluorescence quantitative PCR was used to detect the CNV of ERBB2,TFDP1,MIR148B,CCND1,MDM2 and MIR139 genes in the tumor tissues,to verify TCGA analysis.Results 13q34 was specifically amplified and 12q13.13 was specifically deleted in BasL-type breast cancer.The 17q12 was specifically amplified in Her2 type.The 12q15 was specifically amplified and 11q13.4 was specifically deleted in LumB type,but LumA type had no specific amplification or deletion of chromosome region.The proportion of TFDP1 amplification or MIR148B deletion in BasL type were 57.8%(TCGA)and 71.4%(JMCH),which were significantly higher than other subtypes(P<0.001).The proportion of ERBB2 amplification of Her2 type were 55.2%(TCGA)and 86.7%(JMCH),which were significantly higher than other subtypes(P<0.001).The proportion of LumB type with CCND1 or MDM2 amplification or MIR139 deletion were 47.6%(TCGA)and 61.8%(JMCH),which were significantly higher than other subtypes(P<0.05).Conclusion At the CNV level of breast cancer,Her2 type is characterized by the amplification of ERBB2,BasL type is characterized by the amplification of TFDP1 or the deletion of MIR148B,LumB type is characterized by the amplification of CCND1 or MDM2 or the deletion of MIR139,but LumA type lacks specific CNV characteristics.
出处 《肿瘤防治研究》 CAS CSCD 2021年第4期341-346,共6页 Cancer Research on Prevention and Treatment
基金 国家自然科学基金(81802918) 中国博士后科学基金(2019M660206) 广东省自然科学基金(2019A1515011565,2018A030310007) 广东省医学科研基金(B2020104) 江门市基础与应用基础研究重点项目(2019030102430012905,2020030103140008978)。
分类号 R737.9 [医药卫生—肿瘤]
