1Assistant Professor of Surgery, Afzalipour School of Medicine & Physiology Research Center, Kerman University of Medical Sciences, Kerman, Iran
2Assistant Professor of Medical Genetics, Afzalipour School of Medicine & Physiology Research Center, Kerman University of Medical Sciences, Kerman, Iran
3Surgeon, Afzalipour School of Medicine, Kerman University of Medical Sciences, Kerman, Iran
4Laboratory Staff, Dr. Bazrafshani’s Medical Genetic Laboratory, Kerman, Iran
Background & Aims: Esophageal Cancer is the sixth fatal cancer in the world. Squamous and adenocarcinoma account for 95% 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 60 parafinated blocks from patients with esophageal cancer were investigated for the presence of EGFR mutations by MLPA technique. Results: EGFR mutation was discovered in 82 percent of samples of which 52% were deletion mostly seen in exon 2 (52%) and duplication mostly seen in exon 27 (54%). 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 2 and 27 in order to achieve a noninvasive molecular diagnostic technique in future.