机构:[1]Bioinformatics Department, Beijing USCI Medical Laboratory, No. 7, Zone C, Yiyuan Cultural Innovation Base, No. 65 Xingshikou Road, Haidian District, Beijing 100195, China[2]Research and Development Department, Beijing USCI Medical Laboratory, No. 7, Zone C, Yiyuan Cultural Innovation Base, No. 65 Xingshikou Road, Haidian District, Beijing 100195, China[3]Department of Breast Surgery, First Affiliated Hospital of Dalian Medical University, Zhongshan Road 222, Dalian 116011, China大连医科大学附属第一医院[4]Department of Breast Surgery, Sichuan Cancer Hospital, Chengdu 610041, China外科中心乳腺外科中心四川省肿瘤医院乳腺科[5]Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Breast Tumor Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong 510120, China中山大学附属第二医院[6]Cancer Foundation of China Office, 10th Floor, Building 2, Guangqu Home, Guangqumen, Dongcheng District, Beijing 100061, China
Purpose. Circulating tumor DNA (ctDNA) served as a noninvasive method with less side effects using peripheral blood. Given the studies on concordance rate between liquid and solid biopsies in Chinese breast cancer (BC) patients were limited, we sought to examine the concordance rate of different kinds of genomic alterations between paired tissue biopsies and ctDNA samples in Chinese BC cohorts.Materials and Methods. In this study, we analyzed the genomic alteration profiles of 81 solid BC samples and 41 liquid BC samples. The concordance across 136 genes was evaluated.Results. The median mutation counts per sample in 41 ctDNA samples was higher than the median in 81 tissue samples (p=0.0254; Wilcoxon rank sum test). For mutation at the protein-coding level, 39.0% (16/41) samples had at least one concordant mutation in two biopsies. 20.0% tissue-derived mutations could be detected via ctDNA-based sequencing, whereas 11.7% ctDNA-derived mutations could be found in paired tissues. At gene amplification level, the overall concordant rate was 68.3% (28/41). The concordant rate at gene level for each patient ranged from 83.8% (114/136) to 99.3% (135/136). And, the mean level of variant allele frequency (VAF) for concordant mutations in ctDNA was statistically higher than that for the discordant ones (p<0.001; Wilcoxon rank sum test). Across five representative genes, the overall sensitivity and specificity were 49.0% and 85.9%, respectively.Conclusion. Our results indicated that ctDNA could provide complementary information on genetic characterizations in detecting single nucleotide variants (SNVs) and insertions and deletions (InDels).
基金:
Cancer Foundation of China; USCI special grant of Cancer Foundation of China [ZH0046]
第一作者机构:[1]Bioinformatics Department, Beijing USCI Medical Laboratory, No. 7, Zone C, Yiyuan Cultural Innovation Base, No. 65 Xingshikou Road, Haidian District, Beijing 100195, China
通讯作者:
推荐引用方式(GB/T 7714):
Bing Xu,Guangyu Shan,Qixi Wu,et al.Concordance of Genomic Alterations between Circulating Tumor DNA and Matched Tumor Tissue in Chinese Patients with Breast Cancer[J].JOURNAL OF ONCOLOGY.2020,2020:doi:10.1155/2020/4259293.
APA:
Bing Xu,Guangyu Shan,Qixi Wu,Weiwei Li,Hongjiang Wang...&Ping Zhao.(2020).Concordance of Genomic Alterations between Circulating Tumor DNA and Matched Tumor Tissue in Chinese Patients with Breast Cancer.JOURNAL OF ONCOLOGY,2020,
MLA:
Bing Xu,et al."Concordance of Genomic Alterations between Circulating Tumor DNA and Matched Tumor Tissue in Chinese Patients with Breast Cancer".JOURNAL OF ONCOLOGY 2020.(2020)