中国现代神经疾病杂志 ›› 2020, Vol. 20 ›› Issue (6): 551-555. doi: 10.3969/j.issn.1672-6731.2020.06.014

• 临床研究 • 上一篇    下一篇

2 阿法替尼治疗EGFR G719A突变的肺腺癌脑膜转移一例报道并文献复习

穆宁, 马春华, 李金铎, 刘梅, 李林, 姜镕   

  1. 300350 天津市环湖医院肿瘤介入治疗科
  • 收稿日期:2020-04-28 出版日期:2020-06-25 发布日期:2020-06-24
  • 通讯作者: 姜镕,Email:jiangrong1989@sina.com

Afatinib successfully treated leptomeningeal metastasis of lung adenocarcinoma in a patient with EGFR G719A mutation in detection of cerebrospinal fluid

MU Ning, MA Chun-hua, LI Jin-duo, LIU Mei, LI Lin, JIANG Rong   

  1. Department of Intervention, Tianjin Huanhu Hospital, Tianjin 300350, China
  • Received:2020-04-28 Online:2020-06-25 Published:2020-06-24

摘要:

目的 报道1例存在EGFR外显子18 G719A点突变的肺腺癌脑膜转移患者的诊断与治疗经过。方法与结果 男性患者,34岁,晚期肺腺癌诊断明确,经多周期含铂类药物的静脉化疗方案治疗后病情稳定14个月,继而出现头痛、头晕,经系统检查后确诊为脑膜转移,继续行静脉化疗联合全脑放射治疗,病情仅稳定4个月,随后出现顽固性头痛、双目失明,为缓解脑积水、颅内高压引起的临床症状,急诊行右侧侧脑室-腹腔分流术,因不能耐受鞘内化疗,行脑脊液基因检测发现EGFR外显子18 G719A点突变,予阿法替尼靶向分子化疗,病情稳定55周。结论 肺腺癌脑膜转移患者脑脊液标本检测到EGFR基因突变可以指导临床制定治疗策略,阿法替尼可以有效治疗存在EGFR外显子18 G719A点突变的肺腺癌脑膜转移,且不良反应可耐受。

关键词: 肺肿瘤, 脑膜肿瘤, 肿瘤转移, 抗肿瘤联合化疗方案, 受体, 表皮生长因子, 基因, 突变

Abstract:

Objective To report the diaynosis and afatinib treatment of a patient with leptomeningeal metastasis of lung adenocarcinoma with epidermal growth factor receptor (EGFR) exon18:G719A mutation, detected in cerebrospinal fluid. Methods Cerebrospinal fluid specimens were obtained by lumbar puncture. EGFR mutation status was detected by next-generation sequencing (NGS) method. Afatinib molecular targeted drug therapy was given after positive results were obtained. Results The cerebrospinal fluid EGFR gene test of the patient suggested exon18:G719A mutation. After 8 weeks of afatinib treatment, chest CT showed that the lung lesions were smaller than before, and head MRI showed no obvious intracranial changes. The review indicated that the patient's tumor condition was stable and he had taken the medicine for 55 weeks. The main adverse drug reaction was rash (Grade 1). Conclusions EGFR mutation in cerebrospinal fluid detection of patients with leptomeningeal metastasis of lung adenocarcinoma can guide the clinical treatment strategy. Afatinib in treating leptomeningeal metastasis of lung adenocarcinoma accompanied by EGFR gene exon18:G719A mutation has definite clinical efficacy and is tolerable.

Key words: Lung neoplasms, Meningeal neoplasms, Neoplasm metastasis, Antineoplastic combined chemotherapy protocols, Receptor,epidermal growth factor, Genes, Mutation