Detection rate for ESR1 mutations is higher in circulating-tumor-cell-derived genomic DNA than in paired plasma cell-free DNA samples as revealed by ddPCR.

IF 6.6 2区 医学 Q1 Biochemistry, Genetics and Molecular Biology Molecular Oncology Pub Date : 2025-01-04 DOI:10.1002/1878-0261.13787
Stavroula Smilkou, Aliki Ntzifa, Victoria Tserpeli, Ioanna Balgkouranidou, Alkistis Papatheodoridi, Evangelia Razis, Helena Linardou, Christos Papadimitriou, Amanda Psyrri, Flora Zagouri, Stylianos Kakolyris, Evi Lianidou
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Abstract

Plasma cell-free DNA (cfDNA) analysis to track estrogen receptor 1 (ESR1) mutations is highly beneficial for the identification of tumor molecular dynamics and the improvement of personalized treatments for patients with metastatic breast cancer (MBC). Plasma-cfDNA is, up to now, the most frequent liquid biopsy analyte used to evaluate ESR1 mutational status. Circulating tumor cell (CTC) enumeration and molecular characterization analysis provides important clinical information in patients with MBC. In this study, we investigated whether analysis of CTCs and circulating tumor DNA (ctDNA) provide similar or complementary information for the analysis of ESR1 mutations. We analyzed both plasma-cfDNA (n = 90) and paired CTC-derived genomic DNA (gDNA; n = 42) from 90 MBC patients for seven ESR1 mutations. Eight out of 90 (8.9%) plasma-cfDNA samples tested using the ddPLEX Mutation Detection Assay (Bio-Rad, Hercules, CA, USA), were found positive for one ESR1 mutation, whereas 11/42 (26.2%) CTC-derived gDNA samples were found positive for at least one ESR1 mutation. Direct comparison of paired samples (n = 42) revealed that the ESR1 mutation rate was higher in CTC-derived gDNA (11/42, 26.2%) than in plasma-cfDNA (6/42, 14.3%) samples. Our results, using this highly sensitive ddPLEX assay, reveal a higher percentage of mutations in CTC-derived gDNAs than in paired ctDNA in patients with MBC. CTC-derived gDNA analysis should be further evaluated as an important and complementary tool to ctDNA for identifying patients with ESR1 mutations and for guiding individualized therapy.

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ddPCR显示,循环肿瘤细胞来源的基因组DNA中ESR1突变的检出率高于配对的无浆细胞DNA样本。
通过血浆游离DNA (cfDNA)分析来追踪雌激素受体1 (ESR1)突变,对肿瘤分子动力学的鉴定和转移性乳腺癌(MBC)患者个性化治疗的改进具有重要意义。血浆cfdna是迄今为止最常用的用于评估ESR1突变状态的液体活检分析物。循环肿瘤细胞(CTC)计数和分子特征分析为MBC患者提供了重要的临床信息。在这项研究中,我们研究了ctc和循环肿瘤DNA (ctDNA)的分析是否为ESR1突变的分析提供了相似或互补的信息。我们分析了血浆cfdna (n = 90)和配对的ctc衍生基因组DNA (gDNA;n = 42),来自90例MBC患者,7例ESR1突变。使用ddPLEX突变检测法(Bio-Rad, Hercules, CA, USA)检测的90份血浆cfdna样本中有8份(8.9%)发现一种ESR1突变呈阳性,而11/42 (26.2%)ctc衍生的gDNA样本发现至少一种ESR1突变呈阳性。配对样本(n = 42)的直接比较显示,ctc来源的gDNA的ESR1突变率(11/42,26.2%)高于血浆cfdna样本(6/42,14.3%)。我们的结果,使用这种高灵敏度的ddPLEX测定,揭示了在MBC患者中,ctc衍生的gDNAs的突变百分比高于配对的ctDNA。ctc衍生的gDNA分析作为ctDNA鉴别ESR1突变患者和指导个体化治疗的重要补充工具,还有待进一步评估。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Molecular Oncology
Molecular Oncology Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
11.80
自引率
1.50%
发文量
203
审稿时长
10 weeks
期刊介绍: Molecular Oncology highlights new discoveries, approaches, and technical developments, in basic, clinical and discovery-driven translational cancer research. It publishes research articles, reviews (by invitation only), and timely science policy articles. The journal is now fully Open Access with all articles published over the past 10 years freely available.
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