title: Diagnostic application of PIK3CA mutation analysis in Chinese esophageal cancer patients.
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.
  
  
  CONCLUSIONS
  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.
  The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/13000_2014_153.
authors.forename: Zizhen
authors.initials: Z
authors.lastname: Ming
authors.forename: Dongxian
authors.initials: D
authors.lastname: Jiang
authors.forename: Qin
authors.initials: Q
authors.lastname: Hu
authors.forename: Xiaojing
authors.initials: X
authors.lastname: Li
authors.forename: Jie
authors.initials: J
authors.lastname: Huang
authors.forename: Yifan
authors.initials: Y
authors.lastname: Xu
authors.forename: Yalan
authors.initials: Y
authors.lastname: Liu
authors.forename: Chen
authors.initials: C
authors.lastname: Xu
authors.affiliation: Shanghai Key Laboratory of Veterinary Biotechnology, School of Agriculture and Biology, Shanghai Jiao Tong University, Shanghai 200240, China. hxg@sjtu.edu.cn.
authors.forename: Xiuguo
authors.initials: X
authors.lastname: Hua
authors.forename: Yingyong
authors.initials: Y
authors.lastname: Hou
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002681:China; D058534:Class I Phosphatidylinositol 3-Kinases; D004252:DNA Mutational Analysis / Q000379:methods*; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D011379:Prognosis; D017422:Sequence Analysis, DNA
chemical_list: D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
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