AUTHOR=Chen Dong , Li Xing-liang , Wu Biao , Zheng Xiao-bin , Wang Wen-xian , Chen Hua-fei , Dong Yi-yu , Xu Chun-wei , Fang Mei-yu TITLE=A Novel Oncogenic Driver in a Lung Adenocarcinoma Patient Harboring an EGFR-KDD and Response to Afatinib JOURNAL=Frontiers in Oncology VOLUME=10 YEAR=2020 URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2020.00867 DOI=10.3389/fonc.2020.00867 ISSN=2234-943X ABSTRACT=

Introduction: Oncogenic mutations in the epidermal growth factor receptor (EGFR) occur frequently in patients with lung cancer. These mutations may serve as critical predictive biomarkers in patients with non-small cell lung cancer (NSCLC). Among them, EGFR exon 18–25 kinase domain duplication (EGFR-KDD) mutations have been identified as a novel EGFR gene subtype in NSCLC.

Case Presentation: We reported a rare case of a 59-year-old male diagnosed with adenocarcinoma. A biopsy revealed an EGFR-KDD identified by the next generation sequencing (NGS). Effective treatment outcome has been observed after administration with afatinib.

Conclusion: This case highlights that comprehensive NGS technique is valuable in detecting novel genetic mutations in tumors.