中国西北食管鳞状细胞癌中的基因突变
gene mutations in Northwest Chinese esophageal squamous cell carcinoma.
作者信息
Liu Shi-Yuan, Chen Wei, Chughtai Ehtesham Annait, Qiao Zhe, Jiang Jian-Tao, Li Shao-Min, Zhang Wei, Zhang Jin
机构信息
Shi-Yuan Liu, Zhe Qiao, Jian-Tao Jiang, Shao-Min Li, Wei Zhang, Jin Zhang, Department of Thoracic Surgery, Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, Shaanxi Province, China.
出版信息
World J Gastroenterol. 2017 Apr 14;23(14):2585-2591. doi: 10.3748/wjg.v23.i14.2585.
AIM
To evaluate gene mutational status in Northwest Chinese esophageal squamous cell carcinoma (ESCC) patients, and examine the associations of gene mutations with clinicopathological characteristics and clinical outcome.
METHODS
A total of 210 patients with ESCC who underwent curative resection were enrolled in this study. Pyrosequencing was applied to investigate mutations in exons 9 and 20 of gene in 210 Northwest Chinese ESCCs. The associations of gene mutations with clinicopathological characteristics and clinical outcome were examined.
RESULTS
gene mutations in exon 9 were detected in 48 cases (22.9%) of a non-biased database of 210 curatively resected Northwest Chinese ESCCs. gene mutations were not associated with sex, tobacco use, alcohol use, tumor location, stage, or local recurrence. When compared with wild-type gene cases, patients with gene mutations in exons 9 experienced significantly better disease-free survival and overall survival rates.
CONCLUSION
The results of this study suggest that gene mutations could act as a prognostic biomarker in Northwest Chinese ESCC patients.
目的
评估中国西北食管癌鳞状细胞癌（ESCC）患者的基因突变状态，并研究基因突变与临床病理特征及临床结局的相关性。
方法
本研究共纳入210例行根治性切除术的ESCC患者。采用焦磷酸测序法检测210例中国西北ESCC患者基因第9和20外显子的突变情况。研究基因突变与临床病理特征及临床结局的相关性。
结果
在210例接受根治性切除的中国西北ESCC患者的无偏数据库中，48例（22.9%）检测到基因第9外显子突变。基因突变与性别、吸烟、饮酒、肿瘤位置、分期或局部复发无关。与野生型基因病例相比，第9外显子有基因突变的患者无病生存率和总生存率显著更高。
结论
本研究结果表明，基因突变可作为中国西北ESCC患者的预后生物标志物。
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