Thesis (M.Sc.) - Cairo University - Faculty of Science - Department of Zoology

Background: Mutations of epidermal growth factor receptor (EGFR) gene have been reported to be linked with non{u2013}small cell lung cancer (NSCLC) and associated with the responsiveness of tumors to EGFR tyrosine kinase inhibitors. This study aimed to assess the frequency of EGFR mutations in Egyptian patients with NSCLC adenocarcinoma. Patients and Methods: Formalin-fixed paraffinembedded (FFPE) tissue blocks were prepared from 120 NSCLC patients and 20 healthy volunteers. DNA extracted from FFPE samples was used for PCR amplification using biotinylated primers. The amplified products were hybridized to a test strip containing allele-specific oligonucleotide probes immobilized as an array of parallel lines using the Vienna Lab Strip Assays kit and EGFR mutations were identified. Results: EGFR mutations were detected in forty nine (40.8%) patients, whereas 71 (59.1%) patients were non-mutant. Moreover, the most common mutations were found in exon 19 (55.1% of the all mutations) and exon 21 (26.5% of the all mutations), whereas the mutations in the other exons were less common; mutations in exons 18 and 20 represented only 10.2 % and 8.2% respectively. We found that exon 21 mutation L858R (Leu858Arg) represents 22.4% of mutations and L747-P753 mutation in Ex19Del represents 18.4% of mutations which are the most common. On the other hand, no EGFR mutations were detected in the healthy individuals. Conclusion: EGFR mutations were determined in exons 18 to 21, where exons 19 and 21 were the most frequent mutations and were related to non-smokers and women. We recommend that somatic EGFR mutations are valuable biomarkers for NSCLC diagnosis and can be used for developing targeted therapy in the Egyptian population

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