Seven İsmet, Köş Fahriye Tuğba, Tatli Doğan Hayriye, Kişlal Mustafa Hayri, Sekmek Serhat, Karahan İrfan, Aktürk Esen Selin, Uncu Doğan
Department of Medical Oncology, Ankara Bilkent City Hospital, Medical Oncology Clinic.
Pathology Department, Ankara Bilkent City Hospital, Ankara, Turkey.
Anticancer Drugs. 2025 Feb 1;36(2):151-153. doi: 10.1097/CAD.0000000000001671. Epub 2024 Dec 24.
Epidermal growth factor receptor (EGFR) mutations like the common L858R and exon 19 deletions are well studied, but rarer mutations like exon 19 insertions have received less attention. This case report describes a patient with this uncommon EGFR exon 19 insertion mutation in metastatic lung adenocarcinoma. A 51-year-old male nonsmoker with metastatic lung adenocarcinoma and a rare EGFR exon 19 insertion mutation experienced disease progression on initial carboplatin-pemetrexed chemotherapy. However, treatment with the second-generation tyrosine kinase inhibitor afatinib led to a partial response, with significant regression of the primary tumor and bone metastases. This case highlights the favorable clinical response to afatinib treatment in a patient with metastatic nonsmall cell lung cancer harboring a rare EGFR exon 19 insertion mutation.
表皮生长因子受体（EGFR）突变，如常见的L858R和外显子19缺失，已得到充分研究，但像外显子19插入这样较罕见的突变受到的关注较少。本病例报告描述了一名转移性肺腺癌患者存在这种不常见的EGFR外显子19插入突变。一名51岁从不吸烟的男性患有转移性肺腺癌且有罕见的EGFR外显子19插入突变，其在初始卡铂 - 培美曲塞化疗时疾病进展。然而，使用第二代酪氨酸激酶抑制剂阿法替尼治疗导致部分缓解，原发肿瘤和骨转移灶显著消退。本病例突出了在一名患有罕见EGFR外显子19插入突变的转移性非小细胞肺癌患者中，阿法替尼治疗具有良好的临床反应。
