Watanabe Masahiro, Oizumi Satoshi, Kiuchi Shizuka, Yamada Noriyuki, Yokouchi Hiroshi, Fukumoto Shinichi, Harada Masao
Department of Respiratory Medicine, National Hospital Organization Hokkaido Cancer Center, Japan.
Intern Med. 2018 Apr 1;57(7):993-996. doi: 10.2169/internalmedicine.9565-17. Epub 2017 Dec 8.
The uncommon mutations in the EGFR (the epithelial growth factor receptor) gene include a heterogeneous group of genomic alterations within exons 18-21. The clinical response of patients with such mutations to EGFR tyrosine kinase inhibitor (EGFR-TKI) treatment, however, remains unclear. We herein report a case of advanced lung adenocarcinoma harboring complex exon 18 G719X (Gly719Xaa) and exon 20 S768I (Ser768Ile) mutations. The patient started to receive afatinib and has exhibited good response without progression for 12 months. Second-generation EGFR-TKIs might be an optimal treatment option for non-small cell lung cancers harboring these types of rare EGFR mutation.
表皮生长因子受体(EGFR)基因的罕见突变包括外显子18至21内一组异质性的基因组改变。然而,具有此类突变的患者对EGFR酪氨酸激酶抑制剂(EGFR-TKI)治疗的临床反应仍不清楚。我们在此报告一例晚期肺腺癌病例,该病例存在复杂的外显子18 G719X(甘氨酸719突变为其他氨基酸)和外显子20 S768I(丝氨酸768突变为异亮氨酸)突变。该患者开始接受阿法替尼治疗,并且在12个月内表现出良好反应且无疾病进展。第二代EGFR-TKIs可能是治疗携带此类罕见EGFR突变的非小细胞肺癌的最佳选择。