Marshall University, Huntington, WV, USA.
J Investig Med High Impact Case Rep. 2024 Jan-Dec;12:23247096241300929. doi: 10.1177/23247096241300929.
Lung cancer, a leading cause of cancer mortality, often involves epidermal growth factor receptor (EGFR) mutations, common in 17% of Caucasian and 40% of Asian non-small-cell lung cancer (NSCLC) patients. While the exon 19 deletion and L858R mutation are prevalent, rare variants like L833V/H835L are less understood. This case reports a 75-year-old female with NSCLC harboring L833V/H835L mutations. Initial imaging showed a right upper lobe mass and nodularity in the left upper lobe. Biopsy confirmed adenocarcinoma, and genomic analysis identified EGFR L833V/H835L mutations. Based on these findings, the patient was treated with osimertinib 160 mg daily, reduced to 80 mg due to side effects. After 3 months, positron emission tomography (PET) scans revealed significant tumor reduction, and brain metastasis remained stable. This case demonstrates the efficacy of osimertinib for rare EGFR mutations, aligning with literature suggesting its potential for managing such variants. Although large-scale trials are impractical due to the rarity of these mutations, this report adds valuable evidence supporting osimertinib's use, highlighting the need for comprehensive genomic profiling in NSCLC.
肺癌是癌症死亡的主要原因之一，常涉及表皮生长因子受体（EGFR）突变，在 17%的白种人和 40%的亚洲非小细胞肺癌（NSCLC）患者中常见。虽然外显子 19 缺失和 L858R 突变较为常见，但 L833V/H835L 等罕见变体的了解较少。本病例报告了一例 75 岁女性 NSCLC 患者，携带 L833V/H835L 突变。初始影像学显示右上肺肿块和左上肺结节。活检证实为腺癌，基因分析发现 EGFR L833V/H835L 突变。根据这些发现，患者接受奥希替尼 160 mg 每日治疗，因副作用减少至 80 mg。3 个月后，正电子发射断层扫描（PET）显示肿瘤显著缩小，脑转移保持稳定。本病例证明了奥希替尼治疗罕见 EGFR 突变的疗效，与文献一致，提示其对管理此类变体的潜力。尽管由于这些突变的罕见性，进行大规模试验不切实际，但本报告提供了有价值的证据支持奥希替尼的使用，强调了在 NSCLC 中进行全面基因组分析的必要性。
