title: Frequency, characterization, and prognostic analysis of PIK3CA gene mutations in Chinese esophageal squamous cell carcinoma.
abstract: PIK3CA gene mutations are found in numerous cancers but correlate differently with prognosis. Although the frequency of PIK3CA gene mutation in esophageal squamous cell carcinoma (ESCC) has been previously studied, a prognostic analysis has not been reported. Ninety-six surgically resected ESCC tissues were collected from Chinese patients and DNA was extracted. Gene mutations in PIK3CA (exons 9 and 20), EGFR (exons 18, 19, 20 and 21), KRAS (exons 2 and 3), and BRAF (exons 11 and 15) were screened using mutant-enriched liquid chip technology. PIK3CA gene mutations were identified in 12 of 96 ESCC cases (12.5%). No mutations were identified in EGFR, KRAS or BRAF genes in this study. Correlations between clinicopathological features and PIK3CA mutation status were analyzed and finally, patient survival information was used to determine the prognostic significance of PIK3CA mutation. Interestingly, the frequency of PIK3CA mutation was higher in female ESCC patients (31.3%, 5/16) than in males (8.8%, 7/80), and higher in patients with non-lymph node metastasis (19.6%, 10/51, P = .013) than in patients with lymph node metastasis (4.4%, 2/45, P = .025). Furthermore, patients with PIK3CA-mutated tumors showed a trend towards favorable overall survival (P = .085) but not disease-free survival (P = .238), suggesting that PIK3CA gene status may be a favorable predictive marker in ESCC patients.
authors.affiliation: Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, PR China.
authors.forename: Jun
authors.initials: J
authors.lastname: Hou
authors.affiliation: Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, PR China.
authors.forename: Dongxian
authors.initials: D
authors.lastname: Jiang
authors.affiliation: Innovation Center China, AstraZeneca Global R&D, Zhangjiang Hi-Tech Park, Shanghai 201203, PR China.
authors.forename: Jingchuan
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Innovation Center China, AstraZeneca Global R&D, Zhangjiang Hi-Tech Park, Shanghai 201203, PR China.
authors.forename: Paul R
authors.initials: PR
authors.lastname: Gavine
authors.affiliation: Department of Thorax, Zhongshan hospital, Fudan University, Shanghai 200032, PR China.
authors.forename: Songtao
authors.initials: S
authors.lastname: Xu
authors.affiliation: Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, PR China.
authors.forename: Yalan
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, PR China.
authors.forename: Chen
authors.initials: C
authors.lastname: Xu
authors.affiliation: Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, PR China.
authors.forename: Jie
authors.initials: J
authors.lastname: Huang
authors.affiliation: Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, PR China.
authors.forename: Yunshan
authors.initials: Y
authors.lastname: Tan
authors.affiliation: Department of Thorax, Zhongshan hospital, Fudan University, Shanghai 200032, PR China.
authors.forename: Hao
authors.initials: H
authors.lastname: Wang
authors.affiliation: Innovation Center China, AstraZeneca Global R&D, Zhangjiang Hi-Tech Park, Shanghai 201203, PR China.
authors.forename: Yachao
authors.initials: Y
authors.lastname: Lu
authors.affiliation: Innovation Center China, AstraZeneca Global R&D, Zhangjiang Hi-Tech Park, Shanghai 201203, PR China.
authors.forename: Li
authors.initials: L
authors.lastname: Zheng
authors.affiliation: Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, PR China. Electronic address: hou.yingyong@hotmail.com.
authors.forename: Yingyong
authors.initials: Y
authors.lastname: Hou
authors.affiliation: Department of Thorax, Zhongshan hospital, Fudan University, Shanghai 200032, PR China. Electronic address: tan.lijie@zs-hospital.sh.cn.
authors.forename: Lijie
authors.initials: L
authors.lastname: Tan
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000453:epidemiology* / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D002681:China / Q000453:epidemiology; D058534:Class I Phosphatidylinositol 3-Kinases; D018572:Disease-Free Survival; D004938:Esophageal Neoplasms / Q000453:epidemiology* / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D000077277:Esophageal Squamous Cell Carcinoma; D005260:Female; D006801:Humans; D008207:Lymphatic Metastasis; D008297:Male; D009154:Mutation; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D011379:Prognosis; D016019:Survival Analysis
chemical_list: D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
keywords: Esophageal squamous cell carcinoma; Mutation; PIK3CA gene