A Novel Oncogenic Driver in a Lung Adenocarcinoma Patient Harboring an EGFR-KDD and Response to Afatinib

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...

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Published inFrontiers in oncology Vol. 10; p. 867
Main Authors 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
Format Journal Article
LanguageEnglish
Published Frontiers Media S.A 16.06.2020
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Summary: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.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.
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These authors have contributed equally to this work
This article was submitted to Thoracic Oncology, a section of the journal Frontiers in Oncology
Edited by: Massimo Di Maio, University of Turin, Italy
Reviewed by: Timothy F. Burns, University of Pittsburgh, United States; Giulia Mazzaschi, University Hospital of Parma, Italy
ISSN:2234-943X
2234-943X
DOI:10.3389/fonc.2020.00867