A novel point-of-care system for high-speed real-time polymerase chain reaction testing for epidermal growth factor receptor mutations in bronchial lavage fluids after transbronchial biopsy in patients with non-small cell lung cancer

• Published in: International journal of oncology Vol. 46; no. 4; pp. 1473 - 1480
• Main Authors: SAKAMOTO, TOMOHIRO, KODANI, MASAHIRO, TAKATA, MIYAKO, CHIKUMI, HIROKI, NAKAMOTO, MASAKI, NISHII-ITO, SHIZUKA, UEDA, YASUTO, IZUMI, HIROKI, MAKINO, HARUHIKO, TOUGE, HIROKAZU, TAKEDA, KENICHI, YAMASAKI, AKIRA, YANAI, MASAAKI, TANAKA, NATSUMI, IGISHI, TADASHI, SHIMIZU, EIJI
• Format: Journal Article
• Language: English
• Published: Greece D.A. Spandidos 01-04-2015; Spandidos Publications; Spandidos Publications UK Ltd
• Subjects: Adult; Aged; Aged, 80 and over; Biopsy; Biopsy - methods; Bronchoalveolar lavage; Bronchoalveolar Lavage Fluid - chemistry; Carcinoma, Non-Small-Cell Lung - genetics; Carcinoma, Non-Small-Cell Lung - pathology; Carcinoma, Non-Small-Cell Lung - surgery; Deoxyribonucleic acid; Diagnosis; DNA; DNA polymerase; EGFR mutation; endobronchial ultrasonography using a guide sheath; Epidermal growth factor; Female; Gene mutations; Genetic aspects; Genetic screening; Health aspects; Humans; Laboratories; Lung cancer; Lung cancer, Non-small cell; Lung Neoplasms - genetics; Lung Neoplasms - pathology; Lung Neoplasms - surgery; Male; Methods; Middle Aged; Mutation; Patients; Point-of-Care Systems; point-of-care testing; Polymerase chain reaction; Real-Time Polymerase Chain Reaction - methods; Receptor, Epidermal Growth Factor - genetics; Sensitivity and Specificity; Thermal cycling; ultrarapid PCR; Ultrasonic imaging; virtual bronchoscopic navigation system; Japan
• ISSN: 1019-6439; 1791-2423
• DOI: 10.3892/ijo.2015.2875

Epidermal growth factor receptor (EGFR) gene mutation testing is essential for choosing appropriate treatment options in patients with advanced non-small cell lung cancer (NSCLC). However, a time delay occurs between histological diagnosis and molecular diagnosis in clinical situations. To minimize this delay, we developed a novel point-of-care test for EGFR mutations, based on a high-speed real-time polymerase chain reaction (PCR) system designated here as ultrarapid PCR combined with highly accurate bronchoscopic sampling. We investigated whether our system for detecting EGFR mutations was valid by comparing test results with those obtained using a commercialized EGFR mutation test. We obtained small amounts of bronchial lavage fluids after transbronchial biopsies (TBBs) were performed on enrolled patients (n=168) who underwent endobronchial ultrasonography using a guide sheath (EBUS-GS). EGFR mutation analysis was performed by ultrarapid PCR immediately after EBUS-GS-TBBs were obtained (on the same day). After pathological diagnoses of NSCLC, EGFR mutation status in formalin-fixed, paraffin- embedded samples was confirmed by the PCR-invader method, and the concordance rates between the PCR methods were compared. The total diagnostic yield of EBUS-GS-TBB was 91.0%. The positive concordance rates for detecting 19del and L858R with the ultrarapid PCR and PCR-invader methods were both 100%. Negative concordance rates were 97.2 and 98.1%, respectively. We also demonstrated a dramatic effect of early erlotinib administration, based on ultrarapid PCR results, for a 52-year-old woman suffering from respiratory failure due to severe intrapulmonary metastases with poor performance status. In conclusion, ultrarapid PCR combined with EBUS-GS-TBB enabled rapid and reliable point-of-care testing for EGFR mutations.