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

IF 0.7 Q4 ONCOLOGY

Case Reports in Oncology Pub Date : 2025-05-28 eCollection Date: 2025-01-01 DOI:10.1159/000545543

Jenny D Gong, Ankit Mangla, Matthew M Mirsky

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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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表皮生长因子受体激酶结构域复制在肺腺癌中对奥西替尼的反应：一个病例报告和文献综述。

液体和组织下一代测序（NGS）在肿瘤护理中都很重要。我们报告一例转移性非小细胞肺腺癌（NSCLC），在液体生物标志物检测中发现罕见的表皮生长因子受体激酶结构域重复（EGFR-KDD），导致持续的靶向治疗。病例介绍：一名54岁男性被诊断为转移性NSCLC，并在6个月的时间里接受了多种治疗：卡铂-培美曲塞-派姆单抗，顺铂-多西他赛和杜伐单抗-tremelimumab。Liquid NGS鉴定出一名罕见的EGFR-KDD突变患者，该患者接受奥西替尼治疗后获得了5个月的无进展生存期和显著的临床改善，但最终因奥西替尼不耐受而选择安宁疗护。结论：液体NGS与组织NGS应结合使用，指导治疗并监测治疗反应。奥西替尼可能对EGFR-KDD突变的转移性NSCLC特别有效。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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