头颈部鳞状细胞癌中表皮生长因子受体酪氨酸激酶结构域突变的患病率：队列研究与系统评价
Prevalence of EGFR Tyrosine Kinase Domain Mutations in Head and Neck Squamous Cell Carcinoma: Cohort Study and Systematic Review.
作者信息
Perisanidis Christos
机构信息
Department of Cranio-, Maxillofacial and Oral Surgery, Medical University of Vienna, Vienna, Austria
出版信息
In Vivo. 2017 Jan 2;31(1):23-34. doi: 10.21873/invivo.11020.
Abstract
BACKGROUND
Mutations in the epidermal growth factor receptor (EGFR) tyrosine kinase domain (TKD) are associated with response and resistance to targeted therapy. The EGFR mutation status in patients with advanced oral and oropharyngeal squamous cell carcinoma (OOSCC) was evaluated. A systematic literature review was undertaken to summarize current evidence and estimate the overall prevalence of EGFR TKD mutations in patients with head and neck squamous cell carcinoma (HNSCC).
MATERIALS AND METHODS
Genomic DNA was extracted from formalin-fixed, paraffin-embedded tumor samples of 113 patients with OOSCC. Pyrosequencing was performed to investigate mutations in EGFR exons 18 to 21. Medline databases were searched for relevant studies. Studies reporting mutations in the EGFR TKD in HNSCC were eligible for inclusion in the systematic review.
RESULTS
No mutations in the EGFR TKD were observed in 113 samples of OOSCC. A total of 53 eligible studies were included in the systematic review. In total, from the review, 117 patients harboring a total of 159 EGFR TKD mutations were reported among 4122 patients with HNSCC. The overall prevalence of EGFR TKD mutations in HNSCC was 2.8%.
CONCLUSION
Large-scale studies are warranted to provide further evidence regarding the mutation status of EGFR in patients with HNSCC.
摘要
背景
表皮生长因子受体（EGFR）酪氨酸激酶结构域（TKD）的突变与靶向治疗的反应和耐药性相关。评估了晚期口腔和口咽鳞状细胞癌（OOSCC）患者的EGFR突变状态。进行了一项系统文献综述，以总结当前证据并估计头颈部鳞状细胞癌（HNSCC）患者中EGFR TKD突变的总体患病率。
材料与方法
从113例OOSCC患者的福尔马林固定、石蜡包埋肿瘤样本中提取基因组DNA。采用焦磷酸测序法检测EGFR基因第18至21外显子的突变情况。检索Medline数据库以查找相关研究。报告HNSCC中EGFR TKD突变的研究有资格纳入系统评价。
结果
113例OOSCC样本中未观察到EGFR TKD突变。系统评价共纳入53项符合条件的研究。综述共报告了4122例HNSCC患者中有117例患者携带159个EGFR TKD突变。HNSCC中EGFR TKD突变的总体患病率为2.8%。
结论
有必要开展大规模研究，以提供关于HNSCC患者EGFR突变状态的进一步证据。
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