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Background  Although epidermal growth factor receptor ( EGFR ) inhibitor treatment showed modest response in several clinical trials in esophageal squamous cell carcinoma (ESCC) patients, it has been reported that the frequency of  EGFR  mutations varied largely. The aim of this study was to investigate the existence of  EGFR  mutations in Chinese esophageal squamous cell carcinomas.    Methods  Formalin-fixed paraffin-embedded surgically resected tumor samples were obtained from 127 randomly selected Chinese patients with ESCC. The most common  EGFR  mutations, including in-frame deletions in exon 19 and base substitutions in exon 21, were detected by denaturing high performance liquid chromatography (DHPLC) and direct sequencing simultaneously.  K-RAS  mutations in codons 12 and 13 were detected by direct sequencing.    Results  In this study, L858R missense mutations of the  EGFR  gene were found in 8 out of 127 patients (6.3%) by DHPLC but no mutation was observed by direct sequencing. In addition,  K-RAS  mutation was detected in 2 out of 127 (1.6%) patients by direct sequencing.    Conclusions  The incidence of  EGFR  mutations was relatively high using DHPLC method but no mutation with direct sequencing in Chinese ESCC patients.

Identification of exon 19 and 21 mutations of EGFR gene in Chinese patients with esophageal squamous cell carcinoma