在白人头颈鳞状细胞癌患者中鉴定罕见的表皮生长因子受体（EGFR）p.G796S突变作为体细胞和生殖细胞突变。
Identification of the rare EGFR mutation p.G796S as somatic and germline mutation in white patients with squamous cell carcinoma of the head and neck.
作者信息
Schwentner Ilona, Witsch-Baumgartner Martina, Sprinzl Georg M, Krugmann Jens, Tzankov Alexandar, Jank Siegfried, Zwierzina Heinz, Loeffler-Ragg Judith
机构信息
Department of Otorhinolaryngology, Innsbruck Medical University, Innsbruck, Austria.
出版信息
Head Neck. 2008 Aug;30(8):1040-4. doi: 10.1002/hed.20831.
BACKGROUND
Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) are involved in tumorigenesis and response to targeted therapies in distinct cancer types. Squamous cell carcinomas of the head and neck (HNSCC) show an incidence of EGFR mutations varying from 7% in Asians to 0% to 4% in white patients. Mutational screening predominantly focuses on the analysis of hotspot regions of EGFR (exons 19 and 21).
METHODS
In a follow-up study, we screened for mutations in exons 18 to 21 of the EGFR gene in 127 patients.
RESULTS
In this cohort, a mutation frequency of 2.4% (3/127) was detected. In addition to the previously reported mutation p.K745R, the otherwise rare EGFR mutation p.G796S occurred in 2 patients with HNSCC (2/127).
CONCLUSION
EGFR kinase mutations are rare in white patients with HNSCC. Extension of mutational screening to exon 20 may clarify the frequency and impact of the mutation p.G796S.
背景
表皮生长因子受体（EGFR）酪氨酸激酶结构域中的体细胞突变参与了不同癌症类型的肿瘤发生及对靶向治疗的反应。头颈部鳞状细胞癌（HNSCC）中EGFR突变发生率各异，亚洲人为7%，白人患者为0%至4%。突变筛查主要集中于EGFR热点区域（外显子19和21）的分析。
方法
在一项随访研究中，我们对127例患者的EGFR基因外显子18至21进行了突变筛查。
结果
在该队列中，检测到的突变频率为2.4%（3/127）。除先前报道的p.K745R突变外，另外两例HNSCC患者（2/127）出现了罕见的EGFR突变p.G796S。
结论
EGFR激酶突变在白人HNSCC患者中罕见。将突变筛查扩展至外显子20可能会明确p.G796S突变的频率及影响。
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