title: The efficacy of EGFR gene mutation testing in various samples from non-small cell lung cancer patients: a multicenter retrospective study.
abstract: BACKGROUND
  Testing for the epidermal growth factor receptor (EGFR) gene mutations requires considerable multidisciplinary experience of clinicians (for appropriate patient selection), pathologists (for selection of appropriate cytological or histological material) and geneticists (for performing and reporting reliable molecular tests). We present our experience on the efficacy of routine EGFR testing in various types of tumor samples and the frequency of EGFR mutations in a large series of Polish non-small cell lung cancer (NSCLC) patients.
  
  
  METHODS
  Deletions in exon 19 and substitution L858R in exon 21 of EGFR gene were assessed using real-time PCR techniques in 1,138 small biopsies or cytological specimens and in 1,312 surgical samples.
  
  
  RESULTS
  Out of 2,450 diagnostic samples (containing >10% of tumor cells), the occurrence of EGFR gene mutations was 9%; more frequently in women (13.9%) and adenocarcinoma patients (10%), particularly with accompanying expression of TTF1 (13.0%). The frequency of EGFR gene mutations was similar in cytological and histological specimens, and in primary and metastatic lesions, and did not depend on the percentage of tumor cells and quality of isolated DNA. Cytological or small biopsy, compared to surgical specimens showed lower percentage of tumor cells, with no impact on the quality of real-time PCR assay.
  
  
  CONCLUSIONS
  Cytological and small biopsy samples with low (10-20%) content of tumor cells and specimens from metastatic lesions are a sufficient source for EGFR mutation testing in NSCLC patients. The incidence of EGFR gene mutations in examined population was similar to those reported in other Caucasian populations.
authors.affiliation: Department of Pneumonology, Oncology and Allergology, Medical University of Lublin, Jaczewskiego 8 St., 20-954, Lublin, Poland, krapa@poczta.onet.pl.
authors.forename: Paweł
authors.initials: P
authors.lastname: Krawczyk
authors.forename: Rodryg
authors.initials: R
authors.lastname: Ramlau
authors.forename: Joanna
authors.initials: J
authors.lastname: Chorostowska-Wynimko
authors.forename: Tomasz
authors.initials: T
authors.lastname: Powrózek
authors.forename: Marzena Anna
authors.initials: MA
authors.lastname: Lewandowska
authors.forename: Janusz
authors.initials: J
authors.lastname: Limon
authors.forename: Bartosz
authors.initials: B
authors.lastname: Wasąg
authors.forename: Juliusz
authors.initials: J
authors.lastname: Pankowski
authors.forename: Jerzy
authors.initials: J
authors.lastname: Kozielski
authors.forename: Ewa
authors.initials: E
authors.lastname: Kalinka-Warzocha
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Szczęsna
authors.forename: Kamila
authors.initials: K
authors.lastname: Wojas-Krawczyk
authors.forename: Michał
authors.initials: M
authors.lastname: Skroński
authors.forename: Rafał
authors.initials: R
authors.lastname: Dziadziuszko
authors.forename: Paulina
authors.initials: P
authors.lastname: Jaguś
authors.forename: Ewelina
authors.initials: E
authors.lastname: Antoszewska
authors.forename: Justyna
authors.initials: J
authors.lastname: Szumiło
authors.forename: Bożena
authors.initials: B
authors.lastname: Jarosz
authors.forename: Aldona
authors.initials: A
authors.lastname: Woźniak
authors.forename: Wojciech
authors.initials: W
authors.lastname: Jóźwicki
authors.forename: Wojciech
authors.initials: W
authors.lastname: Dyszkiewicz
authors.forename: Monika
authors.initials: M
authors.lastname: Pasieka-Lis
authors.forename: Dariusz M
authors.initials: DM
authors.lastname: Kowalski
authors.forename: Maciej
authors.initials: M
authors.lastname: Krzakowski
authors.forename: Jacek
authors.initials: J
authors.lastname: Jassem
authors.forename: Janusz
authors.initials: J
authors.lastname: Milanowski
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics / Q000556:secondary / Q000601:surgery; D000368:Aged; D018196:Carcinoma, Adenosquamous / Q000235:genetics / Q000556:secondary / Q000601:surgery; D018287:Carcinoma, Large Cell / Q000235:genetics / Q000556:secondary / Q000601:surgery; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics* / Q000556:secondary / Q000601:surgery; D002294:Carcinoma, Squamous Cell / Q000235:genetics / Q000556:secondary / Q000601:surgery; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D066246:ErbB Receptors / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009367:Neoplasm Staging; D016133:Polymerase Chain Reaction; D011379:Prognosis; D012189:Retrospective Studies; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; C504003:TTF1 protein, human; D014157:Transcription Factors; C512478:EGFR protein, human; D066246:ErbB Receptors
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