Kutsuzawa Naokata, Takahashi Fuminari, Tomomatsu Katsuyoshi, Obayashi Shohei, Takeuchi Tomoe, Takihara Takahisa, Hayama Naoki, Oguma Tsuyoshi, Aoki Takuya, Asano Koichiro
Division of Pulmonary Medicine, Department of Medicine, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan.
Tokai J Exp Clin Med. 2020 Sep 20;45(3):113-116.
Mutations in the gene encoding epidermal growth factor receptor (EGFR) are the most frequent driver mutations in lung adenocarcinoma in Japan. Exon 19 deletion and L858R mutation in exon 21 are the most common EGFR mutations. Uncommon mutations, such as G719X, S768I, and L861Q, and compound mutations, combinations of 2 common or uncommon mutations, have also been reported. EGFR tyrosine kinase inhibitors (TKIs) are effective against cancers harboring common mutations; however, their efficacy against cancers with uncommon or compound mutations remains unclear. We report the case of a 67-year-old man with lung adenocarcinoma (clinical stage IIIA [cT1N2M0]), harboring an uncommon compound mutation, G719X and S768I. The cancer progressed within 2 months of initial chemoradiotherapy. Treatment with afatinib (40 mg/day) produced a partial response, which was maintained for 17 months with continued treatment. A literature review revealed that lung cancer with G719X/S768I compound mutation exhibited good response to EGFR-TKIs, even better than that of lung cancers with single uncommon mutations.
在日本，编码表皮生长因子受体（EGFR）的基因发生突变是肺腺癌中最常见的驱动突变。第19外显子缺失和第21外显子中的L858R突变是最常见的EGFR突变。也有罕见突变的报道，如G719X、S768I和L861Q，以及复合突变，即2种常见或罕见突变的组合。EGFR酪氨酸激酶抑制剂（TKIs）对携带常见突变的癌症有效；然而，它们对具有罕见或复合突变的癌症的疗效仍不清楚。我们报告了一例67岁的肺腺癌男性患者（临床分期IIIA期[cT1N2M0]），其携带罕见的复合突变G719X和S768I。在初始放化疗后的2个月内癌症进展。使用阿法替尼（40mg/天）治疗产生了部分缓解，持续治疗使其维持了17个月。文献综述显示，具有G719X/S768I复合突变的肺癌对EGFR-TKIs表现出良好的反应，甚至优于具有单个罕见突变的肺癌。
