Epidermal Growth Factor Receptor Kinase Domain Duplication in Lung Adenocarcinoma with Response to Osimertinib: A Case Report and Literature Review
Year: 2025
Type: article
Study design: Case Report
Abstract: Introduction: Liquid and tissue next-generation sequencing (NGS) are both important in oncological care. We report a case of metastatic non-small cell lung adenocarcinoma (NSCLC) with a rare epidermal growth factor receptor kinase domain duplication (EGFR-KDD) identified on liquid biomarker testing which led to sustained targeted treatment. Case Presentation: A 54-year-old male was diagnosed with metastatic NSCLC and progressed on multiple lines of therapies: carboplatin-pemetrexed-pembrolizumab, cisplatin-docetaxel, and durvalumab-tremelimumab over a 6-month period. Liquid NGS identified a rare EGFR-KDD mutation that was treated with osimertinib leading to 5 months of progression-free survival and significant clinical improvement before ultimately opting for hospice due to intolerance with osimertinib. Conclusion: Liquid and tissue NGS should be used in combination to guide treatment and monitor treatment response. Osimertinib may be particularly effective in metastatic NSCLC with EGFR-KDD mutations.
Source: Case Reports in Oncology
DOI: 10.1159/000545543
Authors: Jenny D. Gong, Ankit Mangla, Matthew M. Mirsky
Institution: University Hospitals Cleveland Medical Center
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,170
OpenAlex ID: W4410813653
