Teillet Jeffrey, Pradines Anne, Hanoun Naima, Edwards Jules, Joseph Pierre, Gué Anne-Marie, Bancaud Aurélien, Cordelier Pierre
Centre de Recherches en Cancérologie de Toulouse, CRCT, Université de Toulouse, INSERM, CNRS, Toulouse, France.
Laboratoire de Biologie Médicale Oncologique, Oncopole Claudius Regaud, IUCT- Oncopole, Toulouse, France.
Biomed Microdevices. 2025 Aug 28;27(3):40. doi: 10.1007/s10544-025-00767-w.
Epidermal growth factor receptor (EGFR) mutation detection is now commonly used in the management of cancer patients, particularly those diagnosed with non-small cell lung cancer. Molecular beacon-based sensing is direct and rapid, but its sensitivity is low. Conversely, high-sensitivity detection methodologies based on amplification are robust and sensitive but are limited by relatively require long turnaround times. In this study, we utilized a size-resolved, molecular beacon-based strategy for the rapid detection of EGFR genomic alterations, specifically exon 19 deletions and L858R point mutation. This technology combines a concentration and separation module, which allows us to successfully demonstrate the detection of deletions and point mutations of EGFR in five minutes with a mutant allele sensitivity of 10%. The use of a dual-color detection insures fast detection with a reduced risk of false positives. This work represents a first step toward the fast and specific detection of genetic mutations to improve the management of patients with hard-to-treat tumors.
表皮生长因子受体（EGFR）突变检测目前常用于癌症患者的管理，尤其是那些被诊断为非小细胞肺癌的患者。基于分子信标的传感方法直接且快速，但其灵敏度较低。相反，基于扩增的高灵敏度检测方法稳健且灵敏，但相对需要较长的周转时间。在本研究中，我们采用了一种基于分子信标且可分辨大小的策略，用于快速检测EGFR基因组改变，特别是外显子19缺失和L858R点突变。该技术结合了一个浓缩和分离模块，使我们能够在五分钟内成功检测到EGFR的缺失和点突变，突变等位基因灵敏度为10%。使用双色检测确保了快速检测并降低了假阳性风险。这项工作代表了朝着快速、特异性检测基因突变迈出的第一步，以改善对难治性肿瘤患者的管理。
