Sensitive Detection of EGFR Mutations in Cerebrospinal Fluid from Lung Adenocarcinoma Patients with Brain Metastases
Sensitive Detection of EGFR Mutations in Cerebrospinal Fluid from Lung Adenocarcinoma Patients with Brain Metastases
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DOI：
10.1016/j.jmoldx.2014.04.008
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发表时间：
2014-09-01
影响因子：
4.1
通讯作者：
Xu, Xin
中科院分区：
文献类型：
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作者：
Yang, Haihong;Cai, Linbo;Xu, Xin
脑脊液（CSF）中表皮生长因子受体（EGFR）突变可能是EGFR酪氨酸激酶抑制剂治疗颅内转移性肿瘤的有用预测标志物。本研究采用扩增难治性突变系统（ARMS）-PCR技术检测30例肺腺癌脑转移患者EGFR基因的表达情况。共有16名患者在CSF或肿瘤组织中检测出EGFR激活突变阳性。这些包括6份CSF样本中外显子21的L 858 R突变和7份CSF样本中外显子19缺失。在CSF和原发性肿瘤样本之间检测到EGFR突变，阳性预测值为75%（95% CI，0.45-1.00），阴性预测值为75%（95% CI，0.51-0.99），灵敏度为67%（95% CI，0.36-0.97），特异性为82%（95% CI，0.59-1.00）。大多数CSF中有EGFR突变的患者在EGFR-酪氨酸激酶抑制剂治疗后获得了良好的缓解。结论：ARMS-PCR是一种敏感的EGFR突变检测方法。脑转移性肺腺癌患者脑脊液中。因此，ARMS-PCR在指导EGFR-酪氨酸激酶抑制剂治疗颅内肿瘤和诊断肺腺癌患者脑转移中发挥重要作用。
Epidermal growth factor receptor (EGFR) mutations in cerebrospinal fluid (CSF) might be useful predictive markers for EGFR tyrosine kinase inhibitor treatment of intracranial metastatic tumors. In this retrospective study, amplification refractory mutation system (ARMS)-PCR assays were used to investigate the EGFR gene status in 30 lung adenocarcinoma patients with brain metastases. A total of 16 patients tested positive for EGFR-activating mutations in CSF or tumor tissues. These included L858R mutation in exon 21 in six CSF samples and exon 19 deletions in seven CSF samples. EGFR mutations were detected between CSF and primary tumor samples with a 75% positive predictive value (95% CI, 0.45-1.00), 75% negative predictive value (95% CI, 0.51-0.99), 67% sensitivity (95% CI, 0.36-0.97), and 82% specificity (95% CI, 0.59-1.00). Most of the patients who had EGFR mutations in CSF achieved good responses with EGFR-tyrosine kinase inhibitor treatment. In conclusion, ARMS-PCR could be a sensitive method of detecting EGFR mutations. in the CSF of patients with lung adenocarcinoma with brain metastases. As such, ARMS-PCR could play an important role in guiding EGFR-tyrosine kinase inhibitor treatments of intracranial tumors and for diagnosing brain metastases in patients with lung adenocarcinoma.