Balkan Journal of Medical Genetics

MUTATION STATUS AND IMMUNOHISTOCHEMICAL CORRELATION OF EGFR MUTATIONS IN GASTROINTESTINAL STROMAL TUMORS
Ozkayalar H1, Ergoren MC2,3,*, Tuncel G2,3, Kurt S4, Cevik E4, Ozemri Sag S4, Yilmaz Ozguven B5, Kabukcuoglu F5, Mocan G1,2, Temel ŞG4,6,7,*
*Corresponding Author: Associate Professor Mahmut C. Ergoren, Department of Medical Genetics, Faculty of Medicine, Near East University, Near East Boulevard, 99138 Nicosia, Northern Cyprus. Tel.: +90-392-444-0535. Fax: +90-392-223-6461. E-mail: mahmucerkez.ergoren@neu.edu.tr. And/or: Associate Professor Sehime G. Temel, Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Özlüce Görüjke Kampüsü, 16059 Nilüfer, Bursa, Turkey. Tel.: +90-224-295-0000. Fax: +90-224-295-0019. E-mail: sehime@uludag.edu.tr.
page: 67

MATERIALS AND METHODS

Study Design, Participants and Immunohistochemical Analysis. In this study, 40 patients’ samples (19 females, 21 males) who were diagnosed with GIST, were found to be positive with c-KIT immunohistochemistry staining (Clone YR145; Cell Marque Corporation, Rocklin, CA, USA) and DOG-1 (Clone K9; Leica Biosystems, Wetzlar, Germany) between January 2013 and June 2018, at the Pathology Department of Şişli Hamidiye Etfal Education and Research Hospital, Istanbul, Turkey. All 40 tumor samples were fixed in 10.0% formalin for 10 hours at room temperature. Then they were embedded in paraffin sections (4 μm thick) and mounted onto positively-charged glass slides. Immunostaining was performed with an automated immunostainer (Ventana Medical Systems, Inc., Tucson, AZ, USA) using the EGFR antibody (Clone: EGFR.113, dilution: 1/200, Novocastra Laboratories Ltd., Newcastle, Tyne and Wear, UK) at the Pathology Department of Near East University Hospital, Nicosia, Cyprus. The stained slides were evaluated semiquantitatively by two independent pathologists. The EGFR scoring system was referred from the study of Edris et al. [17] as 0: absence of any staining; 1: weak staining (diffuse or focal); 2: strong staining (diffuse or focal). Genetic Analysis. DNA was isolated from the tumor tissue embedded in paraffin blocks using QIAamp® DNA FFPE Tissue Kit (Cat.: 56404, Qiagen GmbH, Hilden, Germany) according to the manufacturer’s protocol. Then, Therascreen® EGFR Pyro Kit (Cat.: 971480, Qiagen GmbH) was used for sequence-based detection and quantitation of mutations in the exons 18 (codon 719), exon 19 (deletion), exon 20 (codons 768 and 790) and exon 21 (codons 858 and 861) of the EGFR gene, according to the manufacturer’s protocol, using 10 ng of genomic DNA extracted from the tumor tissue at the Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.

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