Plasma-based analysis of ERBB2 mutational status by multiplex digital PCR in a large series of patients with metastatic breast cancer.

IF 6.6 2区 医学 Q1 Biochemistry, Genetics and Molecular Biology Molecular Oncology Pub Date : 2024-11-01 Epub Date: 2024-01-29 DOI:10.1002/1878-0261.13592
Julien Corné, Véronique Quillien, Florence Godey, Mathilde Cherel, Agathe Cochet, Fanny Le Du, Lucie Robert, Héloïse Bourien, Angélique Brunot, Laurence Crouzet, Christophe Perrin, Claudia Lefeuvre-Plesse, Véronique Diéras, Thibault De la Motte Rouge
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Abstract

Erb-b2 receptor tyrosine kinase 2 (ERBB2)-activating mutations are therapeutically actionable alterations found in various cancers, including metastatic breast cancer (MBC). We developed multiplex digital PCR assays to detect and quantify ERBB2 mutations in circulating tumor DNA from liquid biopsies. We studied the plasma from 272 patients with hormone-receptor-positive, human epidermal growth factor receptor 2-negative (HR+/HER2-) MBC to detect 17 ERBB2 mutations using a screening assay. The assay was developed on the three-color Crystal dPCR™ naica® platform with a two-step strategy for precise mutation identification. We found that nine patients (3.3%) harbored at least one ERBB2 mutation. The mutation rate was higher in patients with lobular histology (5.9%) compared to invasive breast carcinoma of no special type (2.6%). A total of 12 mutations were found with the following frequencies: L755S (25.00%), V777L (25.00%), S310Y (16.67%), L869R (16.67%), S310F (8.33%), and D769H (8.33%). Matched tumor samples from six patients identified the same mutations with an 83% concordance rate. In summary, our highly sensitive multiplex digital PCR assays are well suited for plasma-based monitoring of ERBB2 mutational status in patients with MBC.

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通过多重数字 PCR 对大量转移性乳腺癌患者血浆中的 ERBB2 基因突变状态进行分析。
Erb-b2 受体酪氨酸激酶 2 (ERBB2) 激活突变是各种癌症(包括转移性乳腺癌 (MBC))中发现的具有治疗作用的改变。我们开发了多重数字 PCR 检测法,用于检测和量化液体活检组织循环肿瘤 DNA 中的 ERBB2 突变。我们研究了272名激素受体阳性、人表皮生长因子受体2阴性(HR+/HER2-)的MBC患者的血浆,使用筛选测定法检测了17个ERBB2突变。该测定是在三色 Crystal dPCR™ naica® 平台上开发的,采用两步策略进行精确突变鉴定。我们发现九名患者(3.3%)至少携带一种 ERBB2 突变。与无特殊类型的浸润性乳腺癌(2.6%)相比,小叶组织学患者的突变率更高(5.9%)。共发现12种突变,频率如下:L755S(25.00%)、V777L(25.00%)、S310Y(16.67%)、L869R(16.67%)、S310F(8.33%)和D769H(8.33%)。六名患者的匹配肿瘤样本发现了相同的突变,吻合率为 83%。总之,我们的高灵敏度多重数字 PCR 检测法非常适合用于基于血浆监测 MBC 患者的 ERBB2 突变状态。
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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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