文章：

循环肿瘤DNA与配对肿瘤组织靶向测序在早期乳腺癌中的一致性研究

Concordance of Targeted Sequencing from Circulating Tumor DNA and Paired Tumor Tissue for Early Breast Cancer

原文发布日期：8 September 2023

DOI: 10.3390/cancers15184475

类型: Article

开放获取: 是

英文摘要：

In this study, we evaluated the concordance of targeted sequencing between paired ctDNA and matched tumor samples from early breast cancers treated with curative intention. Molecular profiling was performed using the Oncomine Comprehensive Assay v3 and the Oncomine Breast cfDNA Assay v2. The liquid biopsy detection rate was 39% (all-stage breast cancers, n = 612). Among 246 early-stage patients assayed for both ctDNA and matched tumor, the cfDNA assay detected 73 (29.6%) and the comprehensive assay detected 201 (81.7%) breast cancers with at least one alteration (χ2test,p= 0.001). In total, 67 (25.6%) cases tested positive on both platforms, while the cfDNA and comprehensive assays detected an additional 10 (4%) and 138 (56%) cases, respectively. The most prevalent mutant genes wereTP53(68.3%) andKRAS(53.5%), while thePIK3CA(39.4%),AKT1(45.9%), andERBB2(17.1%) mutations constituted biomarkers for FDA-approved therapeutics. Our study showed that tumor tissue should be the source of actionable mutation detection for early breast cancers, considering that the concordance rate between tumor and liquid biopsy was only one-quarter.

摘要翻译： 

本研究评估了以治愈为目的的早期乳腺癌患者配对循环肿瘤DNA（ctDNA）与匹配肿瘤样本之间靶向测序结果的一致性。分子谱分析采用Oncomine Comprehensive Assay v3和Oncomine Breast cfDNA Assay v2平台进行。液体活检的总体检出率为39%（全分期乳腺癌患者，n=612）。在同时接受ctDNA与匹配肿瘤检测的246例早期患者中，cfDNA检测发现73例（29.6%），而综合检测发现201例（81.7%）存在至少一种基因变异（χ²检验，p=0.001）。共有67例（25.6%）在两个平台均检测为阳性，而cfDNA检测和综合检测分别额外检出10例（4%）和138例（56%）。最常见的突变基因是TP53（68.3%）和KRAS（53.5%），而PIK3CA（39.4%）、AKT1（45.9%）和ERBB2（17.1%）突变构成FDA批准疗法的生物标志物。鉴于肿瘤组织与液体活检的一致性率仅为四分之一，本研究提示对于早期乳腺癌，肿瘤组织仍应是可操作突变检测的主要来源。

原文链接：

Concordance of Targeted Sequencing from Circulating Tumor DNA and Paired Tumor Tissue for Early Breast Cancer