Iranian Biomedical Journal

en Assessing the Sensitivity of Nested PCR Followed by Direct Sequencing on Exosomal DNA for EGFR Mutation Detection in NSCLC Molecular Genetics & Genomics Molecular Genetics & Genomics مقاله کامل Full Length/Original Article <div style="text-align: justify;">Background: 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. Methods: 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. Results: 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. Conclusion: 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. </div> Exosomes, Liquid biopsy, Lung neoplasms 206 213 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-5914-1&slc_lang=en&sid=1 Mohammad Mehdi Jahani dr.pmashayekhi@yahoo.com 0000-0001-5431-5591 No Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran Parisa Mashayekhi parisamashayekhi7@gmail.com 0000-0002-6373-3266 Yes Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran Mir Davood Omrani davood_omrani@yahoo.co.uk 0000-0002-0673-9717 No Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran Adnan Khosravi adkhosravi@yahoo.com 0000-0001-6813-4847 No Research Center of Thoracic Oncology (RCTO), National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran Ali Dehghanifard dehghanifardali@gmail.com 0000-0003-3761-907X No Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran Sanam Azad Manjiri sazadmanjiri@gmail.com 0000-0002-2442-1841 No Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran Mahyar Zahraie mahyar.zahraie@yahoo.com 0000-0001-6833-3854 No Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran Maryam Mabani parisa90me@gmail.com 0000-0001-7220-6719 No Research Center of Thoracic Oncology (RCTO), National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran Sharareh Seifi sh_seifi@yahoo.com 0000-0002-1340-0949 No Research Center of Thoracic Oncology (RCTO), National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran Babak Salimi Babak_salmd@yahoo.com 0000-0002-5541-8434 No Research Center of Thoracic Oncology (RCTO), National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran Parsa Rostami yavarsystem@gmail.com 0009-0001-2947-6892 No Research Center of Thoracic Oncology (RCTO), National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran