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Diagnostic Pathology
Published in: Diagnostic Pathology 1/2014

Open Access 01-12-2014 | Research

Diagnostic application of PIK3CA mutation analysis in Chinese esophageal cancer patients

Authors: Zizhen Ming, Dongxian Jiang, Qin Hu, Xiaojing Li, Jie Huang, Yifan Xu, Yalan Liu, Chen Xu, Xiuguo Hua, Yingyong Hou

Published in: Diagnostic Pathology | Issue 1/2014

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Abstract

Background

The PIK3CA gene mutation was found to associate with prognosis and might affect molecular targeted therapy in esophageal carcinoma (EC). The aim of this study is to compare different methods for analyzing the PIK3CA gene mutation in EC.

Methods

Genomic DNA was extracted from 106 surgically resected EC patient tissues. The PIK3CA mutation status (exons 9 and 20) were screened by mutant-enrich liquid chip (ME-Liquidchip), Sanger sequencing, and pyrosequencing. And all samples with mutations were independently reassessed using amplification refractory mutation system (ARMS) methods again.

Results

PIK3CA mutation rates were identified as 11.3% (12/106) by ME-Liquidchip. 10 mutations occurred in exon 9 and 2 in exon 20, including G1624A:E542K (n = 4), G1633A:E545K (n = 6) and A3140G:H1047R (n = 2). The results were further verified by ARMS methods. Among these 12 cases characterized for PIK3CA mutation, however, only 7 and 6 cases were identified by Sanger sequencing (6.6%,7/106) and pyrosequencing (5.7%,6/106), respectively.

Conclusion

Sanger sequencing and pyrosequencing are less sensitive and are not efficiently applicable to the detection of PIK3CA mutation in EC samples. Choosing between ME-Liquidchip and ARMS will depend on laboratory facilities and expertise.

Virtual Slides

The virtual slide(s) for this article can be found here: http://​www.​diagnosticpathol​ogy.​diagnomx.​eu/​vs/​13000_​2014_​153
Appendix
Available only for authorised users
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Metadata
Title
Diagnostic application of PIK3CA mutation analysis in Chinese esophageal cancer patients
Authors
Zizhen Ming
Dongxian Jiang
Qin Hu
Xiaojing Li
Jie Huang
Yifan Xu
Yalan Liu
Chen Xu
Xiuguo Hua
Yingyong Hou
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Diagnostic Pathology / Issue 1/2014
Electronic ISSN: 1746-1596
DOI
https://doi.org/10.1186/s13000-014-0153-4

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