Wang Yu-Ting, Ning Wei-Wei, Li Jing, Huang Jian-An
Department of Respiratory Medicine, the First Affiliated Hospital of Soochow University, Suzhou 215006, China.
J Thorac Dis. 2016 Jul;8(7):E542-6. doi: 10.21037/jtd.2016.05.95.
Active mutations of the EGFR gene have been proved to predict the activity of EGFR-TKI. The most common mutations are the exon 19 deletion and exon 21 point mutation, both of which are sensitive to EGFR-TKI. However, rare EGFR mutations or complex mutations still exist, and data of which are scarce and controversial. Their response to EGFR-TKI remains uncertain. We presented a patient diagnosed with stage IV lung adenocarcinoma who was found to have the EGFR mutation in exon 19 (L747P) before any treatment. The disease progressed 2 months after the chemotherapy containing cisplatin and pemetrexed, and erlotinib was administered, but there was no response found. This EGFR-TKI naïve patient failed to achieve the desired effect with the therapy of EGFR-TKI. L747P may be associated with primary resistance to EGFR-TKI in this case.
EGFR基因的活性突变已被证明可预测EGFR-TKI的活性。最常见的突变是19外显子缺失和21外显子点突变，这两种突变对EGFR-TKI均敏感。然而，罕见的EGFR突变或复杂突变仍然存在，其数据稀少且存在争议。它们对EGFR-TKI的反应仍不确定。我们报告了一名被诊断为IV期肺腺癌的患者，在任何治疗前发现其19外显子（L747P）存在EGFR突变。在接受含顺铂和培美曲塞的化疗2个月后疾病进展，随后给予厄洛替尼治疗，但未发现有反应。这名未接受过EGFR-TKI治疗的患者未能通过EGFR-TKI治疗达到预期效果。在这种情况下，L747P可能与对EGFR-TKI的原发性耐药有关。
