Prevalence of Nucleotide Alterations of EGFR Gene in Patients with Esophageal Squamous Cell Carcinoma in Kerman

Background & Aims: Esophageal Cancer is the sixth fatal cancer in the world. Squamous and adenocarcinoma account for ۹۵% of esophageal cancer. The expression of EGFR has a role in the pathophysiology of epidermal-based malignancies such as esophageal cancer. EGFR is also an important criterion in the evaluation of disease staging and prognosis. The aim of this study was to survey the prevalence of EGFR gene mutations in patients with esophageal cancer by MLPA Technique. Methods: A total of ۶۰ parafinated blocks from patients with esophageal cancer were investigated for the presence of EGFR mutations by MLPA technique. Results: EGFR mutation was discovered in ۸۲ percent of samples of which ۵۲% were deletion mostly seen in exon ۲ (۵۲%) and duplication mostly seen in exon ۲۷ (۵۴%). In some cases deletion and/or duplication were seen in more than one exon simultaneously. Conclusion: With regard to the obtained results and since the definitive diagnosis of esophageal cancer is made by biopsy and pathology techniques, it is suggested that all biopsy specimens be detected for EGFR mutations, particularly on exons ۲ and ۲۷ in order to achieve a noninvasive molecular diagnostic technique in future.

Keywords:

Esophageal Neoplasm , EGFR , Mutation , MLPA