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ARMS法检测肺癌软脑膜转移脑脊液EGFR基因突变的价值 被引量:1

The value of ARMS in detecting EGFR gene mutation in cerebrospinal fluid of lung cancer with leptomeningeal metastasis
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摘要 目的 探讨ARMS法检测脑脊液EGFR基因状态在肺癌软脑膜转移诊治中的临床意义.方法 采用ARMS法检测2015年1月-2018年1月入住复旦大学附属华山医院肿瘤科的6例肺腺癌软脑膜转移患者的脑脊液EGFR基因状态,根据检测结果并结合血、脑脊液药物浓度调整全身给药方案,评估疗效.结果 6例患者均完成了ARMS法检测.原发灶可行检测的3例患者脑脊液和原发灶EGFR基因状态一致(野生型1例,L858R突变2例);原发灶未行检测的3例脑脊液中均检出了敏感突变,其中1例患者接受靶向治疗后进展,脑脊液检出T790M突变.根据基因检测结果选用相应靶向药物或细胞毒药物治疗,其中1例无敏感突变,选择化疗;5例敏感突变,靶向治疗一度获益,2例随后进展,靶向药物加量后血和脑脊液浓度增加,病情再次缓解.结论 ARMS法检测脑脊液EGFR基因突变可行,无T790M突变肺腺癌软脑膜转移患者可能从靶向药物加量中获益. Objective To investigate the clinical significance of detection of cerebrospinal fluid EGFR gene status in the diagnosis and treatment of lung cancer with leptomeningeal metastasis by ARMS.Methods The EGFR gene status of cerebrospinal fluid in 6 patients with leptomeningeal metastasis was detected by ARMS method.The systemic drug regimen was adjusted according to the test results and blood and cerebrospiual fluid concentration to evaluate the curative effect.Results 6 patients completed the ARMS test.The EGFR gene status of cerebrospinal fluid and primary tumor was consistent in 3 patients (1 case of wild type and 2 cases of L858R mutation).Sensitive mutations were detected in 3 cases of cerebrospinal fluid without detection of the primary tumor.Among them,one patient progressed after receiving targeted therapy,and the T790M mutation was detected in the cerebrospinal fluid.According to the results of genetic testing,the corresponding targeted drugs or cytotoxic drugs were selected,including 1 case without sensitive mutations and receiving chemotherapy,5 case with sensitive mutations who were once benefited from targeted therapy.2 cases progressed.The concentration of cerebrospinal fluid and serum doubled and the condition was resolved again.Conclusions The detection of EGFR gene mutation in cerebrospinal fluid by ARMS method is feasible.T790M mutation-free lung cancer patients with leptomeningeal metastasis may benefit from increased drug dosage.
作者 黄若凡 葛蒙晰 詹琼 周鑫莉 梁晓华 Huang Ruofan;Ge Mengxi;Zhan Qiong;Zhou Xinli;Liang Xiaohua(Department of Oncology,Huashan Hospital Affiliated to Fudan Vniversity,Shanghai 200040,China)
出处 《中华转移性肿瘤杂志》 2019年第3期43-47,共5页 Chinese Journal of Metastatic Cancer
关键词 肺腺癌 软脑膜转移 表皮生长因子受体 脑脊液 Lung adenocarcinoma Leptomeningeal metastasis EGFR Cerebrospinal fluid
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  • 1石远凯,孙燕,于金明,丁翠敏,马智勇,王子平,王东,王征,王孟昭,王燕,卢铀,艾斌,冯继锋,刘云鹏,刘晓晴,刘基巍,伍钢,曲宝林,李学记,李恩孝,李薇,宋勇,陈公琰,陈正堂,陈骏,余萍,吴宁,吴密璐,肖文华,肖建平,张力,张阳,张沂平,张树才,宋霞,罗荣城,周彩存,周宗玫,赵琼,胡成平,胡毅,聂立功,郭其森,常建华,黄诚,韩宝惠,韩晓红,黎功,黄昱,史幼梧.中国肺癌脑转移诊治专家共识(2017年版)[J].中国肺癌杂志,2017,20(1):1-13. 被引量:159

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