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Background  Esophageal squamous cell carcinoma (ESCC) shows geographic variations in incidence, with high incidences (>50/10 5  person-years) in central Asia, including North Eastern Iran (Golestan) and Northern India (Kashmir). In contrast to Western countries, smoking does not appear to be a significant risk factor for ESCC in central Asia. In lung adenocarcinoma, activating mutations in the gene encoding epidermal growth factor receptor ( EGFR ) are frequent in tumors of never smokers of Asian origin, predicting therapeutic sensitivity to  Egfr -targeting drugs.    Methods  In this study 152 cases of histologically confirmed ESCC from Iran (Tehran and Golestan Province) and North India (Kashmir Valley) have been analyzed for  EGFR  mutation by direct sequencing of exons 18–21.  Egfr  protein expression was evaluated by immunohistochemistry in 34 samples from Tehran and  HER2  mutations were analyzed in 54 cases from Kashmir.    Results  A total of 14 (9.2%)  EGFR  variations were detected, including seven variations in exons. Among those, four (2.6%) were already documented in lung cancers, two were reported as polymorphisms and one was a potentially new activating mutation. All but one variation in introns were previously identified as polymorphisms. Over-expression of  Egfr  was detected in 22/34 (65%) of tested cases whereas no  HER2  mutation was found in 54 cases from Kashmir.    Conclusion  Overall,  EGFR  mutations appear to be a rare event in ESCC in high incidence areas of central Asia, although a very small proportion of cases may harbor mutations predicting sensitivity to anti- Egfr  drugs.

Epidermal growth factor receptor (EGFR) mutations and expression in squamous cell carcinoma of the esophagus in central Asia