A rare epidermal growth factor receptor (EGFR) gene mutation in small cell lung carcinoma patients

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022, 166(3):274-279 | DOI: 10.5507/bp.2022.007

Cheng-Cheng Hwanga, b, Tsan-Yu Hsieha, b, Kun-Yang Yehb, c, Tzu-Ping Chenb, d, Chung-Ching Huab, e, Liang-Che Changa, b, Jim-Ray Chena, b a Department of Pathology, Keelung Chang Gung Memorial Hospital, Keelung, Taiwan b College of Medicine, Chang Gung University, Kwei-Shan, Taoyuan, Taiwan c Department of Oncology and Hematology, Division of Medicine, Keelung Chang Gung Memorial Hospital, Keelung, Taiwan d Department of Thoracic and Cardiovascular Surgery, Keelung Chang Gung Memorial Hospital, Keelung, Taiwan e Department of Thoracic Medicine, Division of Medicine, Keelung Chang Gung Memorial Hospital, Keelung, Taiwan

Aim: Activating mutations in the epidermal growth factor receptor (EGFR) are predominantly detected in pulmonary adenocarcinoma and have been reported in small cell lung cancer (SCLC) for decades. This retrospective single-center study aimed to determine the frequency and types of EGFR mutations in SCLC in Taiwan.

Methods: This study comprises a consecutive cohort of 161 patients histologically diagnosed with SCLC between January 1992 and August 2014 at the Department of Pathology in Keelung Chang Gung Memorial Hospital, Taiwan. Archived formalin-fixed paraffin-embedded sections from 71 patients were eligible for molecular analysis. EGFR mutation analysis was performed using a fully-automated IdyllaTM EGFR Mutation Test and confirmed a comparable result through Qiagen Therascreen® EGFR RGQ PCR. In addition, EGFR gene copy number was assessed in EGFR-mutated tumors by fluorescence in situ hybridization (FISH).

Results: Mutational status of the EGFR gene was successfully analyzed in 63 specimens by both IdyllaTM and Qiagen platforms. Both methods detected L858R point mutation in exon 21 in an 81-year-old female and a 47-year-old male non-smoker. Both tumors show no concurrent EGFR gene amplification. The overall agreement between results obtained with the Idylla™ EGFR Mutation Test and Qiagen Therascreen® EGFR RGQ PCR was 100% Conclusions. Our results showed that EGFR mutation is a rare mutation type in a consecutive series of de novo SCLC. Furthermore, the performance of Idylla™ EGFR Mutation Test and Qiagen Therascreen® EGFR RGQ PCR on archived paraffin sections of limited quantities is available with the high agreement of results.

Keywords: small cell lung cancer, epidermal growth factor receptor, gene mutation, gene amplification, IdyllaTM

Hwang, C., Hsieh, T., Yeh, K., Chen, T., Hua, C., Chang, L., & Chen, J. (2022). A rare epidermal growth factor receptor (EGFR) gene mutation in small cell lung carcinoma patients. Biomedical Papers,166(3),274-279. doi:10.5507/bp.2022.007

This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License (CC BY 4.0), which permits use, distribution, and reproduction in any medium, provided the original publication is properly cited. No use, distribution or reproduction is permitted which does not comply with these terms.

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