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Int J Clin Exp Pathol 2013;6(12):2800-2812

Original Article
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

Anna Szumera-Ciećkiewicz, Włodzimierz T Olszewski, Andrzej Tysarowski, Dariusz M Kowalski, Maciej Głogowski, Maciej Krzakowski, Janusz A
Siedlecki, Michał Wągrodzki, Monika Prochorec-Sobieszek

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; Department of Molecular and Translational Oncology, Maria
Skłodowska-Curie Memorial Cancer Centre and Institute of Oncology, Warsaw; Department of Lung Cancer and Chest Neoplasm, Maria
Skłodowska-Curie Memorial Cancer Centre and Institute of Oncology, Warsaw

Received October 21, 2013; Accepted October 31, 2013; Epub November 15, 2013; Published December 1, 2013

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. (IJCEP1310051).

Keywords: EGFR mutation, non-small-cell lung cancer, cytology, EGFR amplification

Address correspondence to: Anna Szumera-Ciećkiewicz, Department of Diagnostic Hematology, Institute of Hematology and Transfusion
Medicine, I Gandhi 14, Warsaw, Poland. Tel: +48 22 3496495; Fax: +48 22 3496495; E-mail: szumann@gmail.com