Washioka Atsushi, Akamatsu Hiroaki, Sugimoto Takeya, Kitahara Daiki, Kaki Takahiro, Murakami Eriko, Hayata Atsushi, Iwamoto Ryuta, Yamamoto Nobuyuki
Internal Medicine III, Wakayama Medical University, Wakayama, Japan.
Department of Human Pathology, Wakayama Medical University, Wakayama, Japan.
Transl Lung Cancer Res. 2024 Nov 30;13(11):3252-3255. doi: 10.21037/tlcr-24-449. Epub 2024 Nov 12.
Lung mucinous adenocarcinoma has various genetic alterations, but there are no reported cases with exon 14 skipping mutations. Multiplex genetic testing is commonly assessed in non-small cell lung cancer (NSCLC) and treatment usually comprises molecular targeted drugs. However, the efficacy of molecular targeted drugs in lung mucinous adenocarcinoma is not reported. Here, we report on the clinical features of tepotinib in invasive mucinous adenocarcinoma (IMA) harboring exon 14 skipping mutation.
A 68-year-old Japanese woman was diagnosed with IMA that harbored exon 14 skipping mutation. Initial treatment targeting community-acquired pneumonia or cryptogenic organizing pneumonia was ineffective. Blood carcinoembryonic antigen had increased, and positron emission tomography showed uptake of F-fluorodeoxyglucose on the infiltration. A second trans-bronchial lung biopsy allowed diagnosis of IMA that harbored exon 14 skipping mutation. Tepotinib 500 mg once daily was initiated as the patient's first-line treatment and she showed a durable response with mild adverse events during treatment.
Molecular targeted drugs (tepotinib) showed similar efficacy for IMA harboring exon 14 skipping mutation to their use for NSCLC. This case suggests the benefit of aggressive multiplex genetic testing in patients with IMA and subsequent treatment with molecular targeted drugs.
肺黏液腺癌存在多种基因改变，但尚无外显子14跳跃突变的报道病例。多重基因检测在非小细胞肺癌（NSCLC）中普遍开展，治疗通常包括分子靶向药物。然而，分子靶向药物在肺黏液腺癌中的疗效尚无报道。在此，我们报告了特泊替尼在携带外显子14跳跃突变的浸润性黏液腺癌（IMA）中的临床特征。
一名68岁的日本女性被诊断为携带外显子14跳跃突变的IMA。最初针对社区获得性肺炎或隐源性机化性肺炎的治疗无效。血癌胚抗原升高，正电子发射断层扫描显示在浸润部位有氟代脱氧葡萄糖摄取。第二次经支气管肺活检确诊为携带外显子14跳跃突变的IMA。患者开始接受特泊替尼每日一次500毫克的一线治疗，治疗期间显示出持久的反应且不良反应轻微。
分子靶向药物（特泊替尼）对携带外显子14跳跃突变的IMA显示出与用于NSCLC相似的疗效。该病例提示对IMA患者进行积极的多重基因检测以及随后使用分子靶向药物治疗的益处。
