Abstract

The EGFR gene and ALK rearrangements are two genetic drivers of non-small cell lung cancer (NSCLC). The frequency of EGFR mutations and ALK rearrangement varies according to not only ethnicity but also gender, smoking status and the histological type of NSCLC. In the present study, we demonstrated the distribution of EGFR mutations in 132 NSCLC patients by using a pyrosequencing technique and the distribution of ALK rearrangements in 51 NSCLC patients by using fluorescent in situ hybridization technique in Turkey. Additionally, we compared the clinicopathological data of NSCLC patients with the mutation status of EGFR in their cancerous tissues. Both EGFR mutations and ALK rearrangements were identified in 19 (14.39 %) and 1 (1.96 %) patients, respectively. We found EGFR mutations in codon 861, 719 and 858 with the ratios of 10.52 % (2/19), 10.52 % (2/19) and 31.58 % (6/19), respectively, and deletion of exon 19 in 47.37 % (9/19) of the patients. We found the frequency of EGFR mutations to be significantly higher in female patients and nonsmokers (p = 0.043, p = 0.027, respectively). Consequently, we found EGFR mutations to be more frequent in female patients and nonsmokers. Future studies on larger patient groups would provide more accurate data to exhibit the relationship between EGFR mutations and ALK rearrangements and the clinicopathological status.

Highlights

  • Lung cancer is the most common cause of cancer-related deaths in males and females worldwide (Jemal et al 2010)

  • One hundred and thirty two patients applying to Uludağ University Faculty of Medicine, Medical Genetics Department for EGFR mutation analysis and 51 patients applying for ALK translocation analysis with histopathologically proven Non-small cell lung cancer (NSCLC) were enrolled in this retrospective study

  • EGFR mutation and ALK rearrangements were detected in 14.39 % (19/132) and 1.96 % (1/51) of the patients, respectively

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Summary

Introduction

Lung cancer is the most common cause of cancer-related deaths in males and females worldwide (Jemal et al 2010). Non-small cell lung cancer (NSCLC) accounts for 80–85 % of all lung cancers. Most of the patients have advanced stages or metastatic disease (D’Addario et al 2010; Crinò et al 2010). A recent improvement in comprehending the molecular basis of the disease, especially NSCLC, has led to improvements in treatment (Mok et al 2009). Because of the development of biomarker-driven personalized therapy, the treatment approach for many cancers including the NSCLC has changed (Vagulienė et al 2012).

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