Mutation status of epidermal growth factor receptor family gene in head and neck squamous cell carcinoma and its drug-sensitivity to small molecule inhibitors.

我们利用92例头颈部鳞状细胞癌（HNSCC）样本，探讨了表皮生长因子受体（EGFR）家族基因的突变状况。6个样本中检测到EGFR L858R、E709K、V765G、G1022S、ins770G 5个突变，1个样本中检测到HER2 K716E 1个突变。在这些突变中，L858R、E709K和ins770G可以通过EGFR的组成性自磷酸化使Ba/F3细胞独立于IL-3生长。L858R和E709K对EGFR抑制剂表现出敏感性，而ins770G对这些抑制剂表现出相对的抗性。31个淋巴结转移中只有1个显示原发部位L858R相同的EGFR突变。我们还检测了EGFR通路下游基因K-Ras、B-Raf和PIK3CA的突变情况。我们发现了3个已知的K-Ras和PIK3CA突变。

We explored mutation status of epidermal growth factor receptor, EGFR, family gene using 92 head and neck squamous cell carcinoma, HNSCC, samples. 5 mutations of EGFR, L858R, E709K, V765G, G1022S, and ins770G, in 6 samples and 1 mutation of HER2, K716E, in 1 sample have been recognized. Of these mutations, L858R, E709K and ins770G could render the growth of Ba/F3 cells independent of IL-3 by the constitutive autophosphorylation of EGFR. L858R and E709K showed sensitivity to EGFR inhibitors, although ins770G showed relatively resistance to those inhibitors.Only one out of 31 lymph node metastases showed the same EGFR mutation of the primary site, L858R.Also we examined mutation status of down-stream genes of EGFR pathway, K-Ras, B-Raf and PIK3CA. And we found 3 each already known mutations of K-Ras and PIK3CA.