Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Iran Biomed J. 2024 Jul 1;28(4):208-15. doi: 10.61186/ibj.4289.
Early and minimally invasive detection of epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer (NSCLC) patients is a promising tool to select patients for targeted therapy in order to improve their prognosis. This study aimed to identify a sensitive, cost-effective, and easily accessible noninvasive method for detecting the EGFR-targetable mutations in the plasma exosomal DNA (exoDNA)+ of patients with NSCLC.
This retrospective observational study was conducted over 10 months, from December 2022 to October 2023, at Masih Daneshvari Hospital in Tehran, Iran. A total of 30 patients with stage II-IV NSCLC and targetable mutation in the EGFR gene were included in the study. Nested PCR and Sanger sequencing were used to evaluate EGFR mutations in the DNA extracted from circulating exosomes.
The study found a sensitivity of 76.6% for EGFR mutation detection on exoDNA compared to tissue results. No significant impact was observed based on tumor staging, histology, mutation type, smoking status, gender, or age.
Therapeutically targetable driver mutations in the EGFR gene can be accurately detected using nested PCR followed by direct sequencing of plasma exoDNA from patients with NSCLC. This approach facilitates timely and more personalized treatment for NSCLC patients, ultimately improving patient prognosis. Additionally, this method reduces the reliance on invasive tissue biopsies and their associated complications.
早期和微创检测非小细胞肺癌（NSCLC）患者表皮生长因子受体（EGFR）突变是选择患者进行靶向治疗以改善预后的有前途的工具。本研究旨在确定一种敏感、具有成本效益且易于获得的非侵入性方法，用于检测 NSCLC 患者血浆外泌体 DNA（exoDNA）+中 EGFR 靶向突变。
这是一项回顾性观察研究，在伊朗德黑兰的 Masih Daneshvari 医院进行，时间为 2022 年 12 月至 2023 年 10 月，共纳入 30 名患有 II-IV 期 NSCLC 和 EGFR 基因可靶向突变的患者。巢式 PCR 和 Sanger 测序用于评估从循环外泌体中提取的 DNA 中的 EGFR 突变。
与组织结果相比，外泌体 DNA 上 EGFR 突变检测的灵敏度为 76.6%。未观察到基于肿瘤分期、组织学、突变类型、吸烟状况、性别或年龄的显着影响。
使用巢式 PCR 后直接对 NSCLC 患者的血浆外泌体进行测序，可以准确检测 EGFR 基因中的治疗靶向驱动突变。这种方法促进了 NSCLC 患者的及时和更个性化的治疗，最终改善了患者的预后。此外，这种方法减少了对侵入性组织活检及其相关并发症的依赖。
