Epidermal Growth Factor Receptor Kinase Domain Duplication in Lung Adenocarcinoma with Response to Osimertinib: A Case Report and Literature Review

表皮生长因子受体激酶结构域重复在肺腺癌中对奥希替尼有反应:病例报告及文献综述

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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.

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