title: EGFR mutation testing on cytological and histological samples in non-small cell lung cancer: a Polish, single institution study and systematic review of European incidence.
abstract: The targeted treatment of advanced non-small-cell lung cancer (NSCLC) depends on confirmation of activating somatic EGFR mutation. The aim of the study was to evaluate the incidence of EGFR mutations in NSCLC detected in cytological and histological material and present literature review on European EGFR mutation incidence. 273 patients with confirmed NSCLC were entered into the study: 189 histological, paraffin-embedded materials, 12 fresh and 72 fixed cytological specimens. DNA was extracted from both types of material and the EGFR mutation in exons 18-21 was analyzed by direct sequencing. In addition the EGFR gene copy number in cases with sufficient histological material (110 patients) was evaluated by fluorescent in situ hybridization (FISH) technique. The percentage of EGFR somatic mutations was 10.62%. FISH positive results (amplification or high polysomy of EGFR gene) were identified in 33 patients (30.0%). The strongest clinicopathological correlation with the EGFR mutation was found for histological type (adenocarcinoma; p < 0.01), gender (females; p < 0.01) and FISH positive result (p < 0.05). This is the first, single institution study that estimates the EGFR mutation incidence in the Polish population. Cytological material recovered from fixed preparations and stained with hematoxylin and eosin showed DNA quality comparable to fresh tumor cells and histological samples.
authors.affiliation: Department of Diagnostic Hematology, Institute of Hematology and Transfusion Medicine Warsaw ; Department of Pathology, Maria Skłodowska-Curie Memorial Cancer Centre and Institute of Oncology Warsaw.
authors.forename: Anna
authors.initials: A
authors.lastname: Szumera-Ciećkiewicz
authors.forename: Włodzimierz T
authors.initials: WT
authors.lastname: Olszewski
authors.forename: Andrzej
authors.initials: A
authors.lastname: Tysarowski
authors.forename: Dariusz M
authors.initials: DM
authors.lastname: Kowalski
authors.forename: Maciej
authors.initials: M
authors.lastname: Głogowski
authors.forename: Maciej
authors.initials: M
authors.lastname: Krzakowski
authors.forename: Janusz A
authors.initials: JA
authors.lastname: Siedlecki
authors.forename: Michał
authors.initials: M
authors.lastname: Wągrodzki
authors.forename: Monika
authors.initials: M
authors.lastname: Prochorec-Sobieszek
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002289:Carcinoma, Non-Small-Cell Lung / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D066246:ErbB Receptors / Q000235:genetics*; D005260:Female; D005784:Gene Amplification; D018628:Gene Dosage; D005787:Gene Frequency; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008175:Lung Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011044:Poland / Q000453:epidemiology
chemical_list: C512478:EGFR protein, human; D066246:ErbB Receptors
keywords: EGFR amplification; EGFR mutation; cytology; non-small-cell lung cancer