title: Comparison of EGFR mutation detection between the tissue and cytology using direct sequencing, pyrosequencing and peptide nucleic acid clamping in lung adenocarcinoma: Korean multicentre study.
abstract: BACKGROUND
  The importance of sensitive methods for the detection of epidermal growth factor receptor (EGFR) mutation is emphasized. The aim of this study is to perform comparative and concordance analyses of direct sequencing, pyrosequencing and peptide nucleic acid (PNA) clamping for detecting EGFR gene mutations using archived tissue and cytology specimens.
  
  
  METHODS
  Samples from a total of 112 cases, which were diagnosed with adenocarcinoma of the lung at nine hospitals in Korea were collected. Using the above three methods, the concordance rates of EGFR mutations in exons 18, 19, 20 and 21 were analysed and validated in comparative tissue and cytology specimens.
  
  
  RESULTS
  Comparison of EGFR mutation detection between the tissue and cytology had a high concordance rate. The diagnostic performance of pyrosequencing and PNA clamping in tissue was higher than that of direct sequencing as well as cytology. Additionally, among some of the patients who had EGFR wild type by single method, EGFR mutations were detected by other methods. Cytology specimens had a diagnostic performance for the detection of EGFR mutations.
  
  
  CONCLUSIONS
  Cytology specimens had a diagnostic performance for the detection of EGFR mutations that was comparable to that of tissues. For detecting EGFR mutations, pyrosequencing or PNA clamping was more sensitive than direct sequencing. In EGFR mutation negative patients who are difficult to obtain tissue, repeating test using pyrosequencing or PNA clamping is recommended to improve the detection rate of EGFR mutation than only one, especially in cytology.
authors.affiliation: From the Department of Pathology, Konkuk University School of Medicine, Seoul.
authors.forename: Kyueng-Whan
authors.initials: KW
authors.lastname: Min
authors.affiliation: From the Department of Pathology, Konkuk University School of Medicine, Seoul, wskim@kuh.ac.kr.
authors.forename: Wan-Seop
authors.initials: WS
authors.lastname: Kim
authors.affiliation: Asan Medical Center, University of Ulsan, College of Medicine, Seoul.
authors.forename: Se Jin
authors.initials: SJ
authors.lastname: Jang
authors.affiliation: Chonnam National University Medical School, Gwangju.
authors.forename: Yoo Duk
authors.initials: YD
authors.lastname: Choi
authors.affiliation: Inje University College of Medicine, Goyang.
authors.forename: Sunhee
authors.initials: S
authors.lastname: Chang
authors.affiliation: Yonsei University Wonju College of Medicine, Wonju.
authors.forename: Soon Hee
authors.initials: SH
authors.lastname: Jung
authors.affiliation: Inha University School of Medicine, Incheon.
authors.forename: Lucia
authors.initials: L
authors.lastname: Kim
authors.affiliation: Dong-A University College of Medicine, Busan.
authors.forename: Mee Sook
authors.initials: MS
authors.lastname: Roh
authors.affiliation: Chungnam National University College of Medicine, Daejeon.
authors.forename: Choong Sik
authors.initials: CS
authors.lastname: Lee
authors.affiliation: Hallym University College of Medicine, Seoul.
authors.forename: Jung Weon
authors.initials: JW
authors.lastname: Shim
authors.affiliation: Yeungnam University College of Medicine, Daegu, and.
authors.forename: Mi Jin
authors.initials: MJ
authors.lastname: Kim
authors.affiliation: National Cancer Center, Goyang, Republic of Korea.
authors.forename: Geon Kook
authors.initials: GK
authors.lastname: Lee
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology; D000077192:Adenocarcinoma of Lung; D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D004252:DNA Mutational Analysis / Q000379:methods; D004273:DNA, Neoplasm / Q000235:genetics; D066246:ErbB Receptors / Q000235:genetics*; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020135:Peptide Nucleic Acids / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA / Q000379:methods; D013048:Specimen Handling / Q000379:methods
chemical_list: D004273:DNA, Neoplasm; D020135:Peptide Nucleic Acids; C512478:EGFR protein, human; D066246:ErbB Receptors