title: [Detection of epidermal growth factor receptor gene mutations in advanced non-small cell lung cancer].
abstract: OBJECTIVE
  To investigate the mutations of epidermal growth factor receptor (EGFR) in tumor tissue and pleural effusion in advanced non-small cell lung cancer (NSCLC) patients, and to analyze the relationship between EGFR mutations and the clinicopathologic characteristics.
  
  
  METHODS
  Two-hundred and forty-one cases of formalin-fixed, paraffin-embedded tumor tissues and 14 paired pleural effusions from advanced NSCLC patients were collected. Twenty-nine different EGFR mutations in exons 18-21 were assessed by scorpions and amplification refractory mutation system (scorpions ARMS) using real time PCR. The relationship between the EGFR mutations and clinical parameters was analyzed using statistical methods. EGFR mutation of 37 cases were detected with direct sequencing, and assessed the sensitivity, the specificity and the accuracy of scorpions ARMS.
  
  
  RESULTS
  EGFR somatic mutations were detected in 114 of 234 advanced NSCLC patients, with the mutation rate of 48.7%, including deletions in exon 19 in 65 patients and point mutation of L858R in exon 21 in 39 patients; both accounting for 91.2% (104/114) of all types of EGFR mutations. The test results of 14 paired pleural effusion specimens were entirely the same to the tissues. The concordance rate of 2 different detection methods was 94.6%. Mutation rate was higher in women (55.9%) than in men (42.2%), and there was no difference in mutation rates between smokers and non-smokers; patients in stage IIIB and stage IV; adenocarcinoma and non-adenocarcinoma.
  
  
  CONCLUSIONS
  EGFR somatic mutations appear to occur frequently in Chinese. Scorpions ARMS technology is a sensitive method to detect EGFR mutations and is suitable for screening patients who would likely respond to EGFR inhibitors therapy.
authors.affiliation: Department of Medical Oncology, Cancer Institute & Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100021, China.
authors.forename: Shuai
authors.initials: S
authors.lastname: Wang
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Han
authors.forename: Jun-Ling
authors.initials: JL
authors.lastname: Li
authors.forename: Xing-Sheng
authors.initials: XS
authors.lastname: Hu
authors.forename: Xiao-Yuan
authors.initials: XY
authors.lastname: Wang
authors.forename: Lin
authors.initials: L
authors.lastname: Gui
authors.forename: Ling-di
authors.initials: LD
authors.lastname: Zhao
authors.forename: Yan
authors.initials: Y
authors.lastname: Sun
authors.forename: Yuan-Kai
authors.initials: YK
authors.lastname: Shi
mesh_terms: D000328:Adult; D000368:Aged; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D066246:ErbB Receptors / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D017354:Point Mutation; D055815:Young Adult
chemical_list: C512478:EGFR protein, human; D066246:ErbB Receptors