Ma Chunhua, Wang Shuyuan, Mu Ning, Li Jinduo, Liu Mei, Li Lin, Jiang Rong
Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Disease, Department of Intervention, Tianjin Huanhu Hospital, Tianjin, China.
Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Disease, Department of Neurosurgery, Tianjin Huanhu Hospital, Tianjin, China.
Front Oncol. 2020 Sep 8;10:1635. doi: 10.3389/fonc.2020.01635. eCollection 2020.
In patients with lung adenocarcinoma and leptomeningeal metastases, it remains unknown whether non-classical mutations in the epidermal growth factor receptor (EGFR) gene can be detected in the cerebrospinal fluid (CSF) and how it may be used to design directed therapy. On April 18, 2018, the Interventional Department of Tianjin Huanhu Hospital admitted a 34-years-old male patient with lung adenocarcinoma and leptomeningeal metastasis. An emergency lateral ventriculoperitoneal shunt was performed to relieve the clinical symptoms of intracranial hypertension. Next-generation sequencing (NGS) of the CFS specimens revealed a mutation in EGFR exon 18 p.G719A, and afatinib was administered. Follow-up showed significantly relieved headache, with significantly reduced soft leptomeningeal abnormal enhancement as revealed by enhanced magnetic resonance imaging and significantly smaller tumors in the left lung by chest computed tomography. Carcinoembryonic antigens (CEAs) in cerebrospinal fluid and peripheral blood were significantly reduced. The patient responded well to afatinib, with mild adverse complications. The patient died on October 27, 2019 from respiratory failure as a result of lung infection unrelated to cancer progression. The overall survival (OS) using afatinib was 530 days. CSF can be used as a liquid biopsy for NGS gene detection in patients with lung adenocarcinoma and leptomeningeal metastases. Afatinib exhibits a beneficial effect in patients with lung adenocarcinoma and leptomeningeal metastases harboring the EGFR exon 18 p.G719A mutation.
在肺腺癌合并软脑膜转移的患者中，目前尚不清楚脑脊液（CSF）中是否能检测到表皮生长因子受体（EGFR）基因的非经典突变，以及如何利用这些突变来设计靶向治疗方案。2018年4月18日，天津环湖医院介入科收治了一名34岁的男性肺腺癌合并软脑膜转移患者。紧急进行了侧脑室腹腔分流术以缓解颅内高压的临床症状。对脑脊液标本进行二代测序（NGS）发现EGFR基因第18外显子存在p.G719A突变，随后给予阿法替尼治疗。随访结果显示，患者头痛明显缓解，增强磁共振成像显示软脑膜异常强化明显减轻，胸部计算机断层扫描显示左肺肿瘤明显缩小。脑脊液和外周血中的癌胚抗原（CEA）显著降低。患者对阿法替尼反应良好，出现轻度不良并发症。患者于2019年10月27日因与癌症进展无关的肺部感染导致呼吸衰竭死亡。使用阿法替尼治疗的总生存期（OS）为530天。脑脊液可作为肺腺癌合并软脑膜转移患者进行NGS基因检测的液体活检样本。阿法替尼对携带EGFR基因第18外显子p.G719A突变的肺腺癌合并软脑膜转移患者具有有益疗效。
