Abstract

Purpose: Contemporary literature on lung adenocarcinoma has demonstrated a genetic difference of the epidermal growth factor receptor (EGFR) pathway conferring to ethnicity, such as higher frequency of activated EGFR mutations in East Asian population. This information is missing in some developing countries, and we intend to address this gap in the literature. Methods: We examined the rate of EGFR mutations among Pakistani patients with adenocarcinoma of the lung. Fine-needle aspiration samples were gathered from 73 patients. Polymerase chain reaction was performed on extracted DNA for mutational analysis of EGFR exons 19 and 21 . Results: EGFR mutations were discovered in 18 of 73 (24.6%) patients. We did not find any significant difference in EGFR mutation rate with regard to patient's age, sex, smoking history, clinical stage of lung cancer, subtypes of adenocarcinoma, and tumor differentiation. Conclusion: Our investigation shows that the EGFR mutation rate in our patient population with adenocarcinoma of the lung was higher than in African-American, Arabian, and white Caucasian patients, and was lower than the East Asian population.

Highlights

  • The rate of epidermal growth factor receptor (EGFR) mutation in non-small cell lung cancer is known to vary throughout ethnic groups, with nearly 10% of patients with non-small cell lung cancer (NSCLC) in the US and 35% in East Asia have tumor associated EGFR mutations.[1,2,3,4] These mutations occur within EGFR exons 18-21, which encodes a percentage of the EGFR kinase domain

  • Literature concentrating on East Asian population indicates that the incidence of classical EGFR mutations is predictive of survival benefit following EGFR tyrosine kinase inhibitor (TKI) therapy.[8]

  • A higher incidence of EGFR mutation was appreciated in adenocarcinomas with papillary component (0.05)

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Summary

Introduction

The rate of epidermal growth factor receptor (EGFR) mutation in non-small cell lung cancer is known to vary throughout ethnic groups, with nearly 10% of patients with non-small cell lung cancer (NSCLC) in the US and 35% in East Asia have tumor associated EGFR mutations.[1,2,3,4] These mutations occur within EGFR exons 18-21, which encodes a percentage of the EGFR kinase domain. About 90% of the mutations are exon 19 deletions or exon 21 L858R point mutations.[5] The influence of ethnicity on the rate of the mutation is poorly understood. Contemporary literature suggests that EGFR mutations offer survival benefit independent of therapy.[6, 7] Literature concentrating on East Asian population indicates that the incidence of classical EGFR mutations is predictive of survival benefit following EGFR tyrosine kinase inhibitor (TKI) therapy.[8]

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