Long Xiang, Qin Tian, Lin Junhong
Department of Respiratory Medicine, Peking University Shenzhen Hospital, Shenzhen, 518036, China.
Burning Rock Biotech, Guangzhou, 510300, China.
Onco Targets Ther. 2020 Oct 20;13:10689-10692. doi: 10.2147/OTT.S260157. eCollection 2020.
Uncommon mutations account for 10-15% of epidermal growth factor receptor (EGFR) mutations in patients with non-small-cell lung cancer (NSCLC). Most of them are proved to be sensitive or resistant to EGFR-tyrosine kinase inhibitors (TKIs). However, there is insufficient evidence for other less common types of EGFR mutations, such as complex mutations. Here, we present a 65-year-old never-smoking male who was diagnosed with stage IV lung adenocarcinoma. A rare L833V/H835L complex mutation in exon 21 of EGFR was detected in plasma and pleural effusion by next generation sequencing (NGS). Afatinib was used as first-line therapy and showed very good efficacy. To date, the patient is still benefited from afatinib treatment for a total of 10 months, with no signs of disease progression. Our case suggests that a comprehensive screening for EGFR mutations should be conducted before treatment in clinical practice, and afatinib could be a first-line treatment option in NSCLC patients harboring H833V/H835L mutations.
罕见突变占非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)突变的10%-15%。其中大多数已被证明对EGFR酪氨酸激酶抑制剂(TKIs)敏感或耐药。然而,对于其他不太常见的EGFR突变类型,如复杂突变,证据不足。在此,我们报告一名65岁从不吸烟的男性,他被诊断为IV期肺腺癌。通过下一代测序(NGS)在血浆和胸腔积液中检测到EGFR第21外显子罕见的L833V/H835L复杂突变。阿法替尼被用作一线治疗,显示出非常好的疗效。迄今为止,该患者已从阿法替尼治疗中获益共10个月,无疾病进展迹象。我们的病例表明,临床实践中在治疗前应进行EGFR突变的全面筛查,阿法替尼可能是携带H833V/H835L突变的NSCLC患者的一线治疗选择。