title: Sensitive detection of EGFR mutations in cerebrospinal fluid from lung adenocarcinoma patients with brain metastases.
abstract: 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.
authors.affiliation: Respiratory Oncology Center, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, China. Electronic address: bjrf2009@yahoo.com.
authors.forename: Haihong
authors.initials: H
authors.lastname: Yang
authors.affiliation: Department of Oncology, Guangdong 999 Brain Hospital, Guangzhou, China.
authors.forename: Linbo
authors.initials: L
authors.lastname: Cai
authors.affiliation: Respiratory Oncology Center, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.
authors.forename: Yalei
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Respiratory Diseases, Department of Internal Neurology, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.
authors.forename: Hongyu
authors.initials: H
authors.lastname: Tan
authors.affiliation: Center for Translational Medicine, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.
authors.forename: Qiuhua
authors.initials: Q
authors.lastname: Deng
authors.affiliation: Respiratory Oncology Center, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.
authors.forename: Meiling
authors.initials: M
authors.lastname: Zhao
authors.affiliation: Respiratory Oncology Center, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Xu
mesh_terms: D000230:Adenocarcinoma / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000401:mortality / Q000473:pathology*; D000077192:Adenocarcinoma of Lung; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001932:Brain Neoplasms / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000188:drug therapy / Q000401:mortality / Q000556:secondary*; D066246:ErbB Receptors / Q000235:genetics*; D005260:Female; D005820:Genetic Testing / Q000379:methods* / Q000592:standards; D060005:Genotyping Techniques; D006801:Humans; D008175:Lung Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000401:mortality / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011379:Prognosis; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use; D012680:Sensitivity and Specificity; D016896:Treatment Outcome
chemical_list: D000970:Antineoplastic Agents; D047428:Protein Kinase Inhibitors; D066246:ErbB Receptors