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

Abstract

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.

• Authors: Yong Cui, Dong Chang, Mingliang Liu, Changjin Lin, Baojian Zhao, Xu Zhang, Min Gong
• Journal: World journal of surgical oncology (World J Surg Oncol) Vol. 11 Pg. 266 (Oct 09 2013) ISSN: 1477-7819 [Electronic] England
• PMID: 24103528 (Publication Type: Journal Article, Randomized Controlled Trial, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Neoplasm
• EGFR protein, human
• ErbB Receptors

Topics

• Asian People (genetics)
• Carcinoma, Squamous Cell (diagnosis, genetics)
• Chromatography, High Pressure Liquid
• DNA, Neoplasm (genetics)
• ErbB Receptors (genetics)
• Esophageal Neoplasms (diagnosis, genetics)
• Exons (genetics)
• Humans
• Mutation (genetics)
• Polymerase Chain Reaction
• Prognosis
• Sequence Deletion