Li Dan, Liu Xin, Cui SaiQiong, Yang DaFu, Zhu Yue, Pan Evenki, Yang Peng, Dai ZhaoXia
The Second Department of Thoracic Medical Oncology, The Second Hospital of Dalian Medical University, Dalian, People's Republic of China.
Nanjing Geneseeq Technology Inc., Nanjing, People's Republic of China.
Onco Targets Ther. 2023 Jan 18;16:17-22. doi: 10.2147/OTT.S391766. eCollection 2023.
For advanced non-small cell lung cancer (NSCLC) patients with common epidermal growth factor receptor () mutations (exon 19 deletions or the exon 21 L858R mutation), tyrosine kinase inhibitors (TKIs) are the standard therapies. However, germline mutations are extremely rare in lung cancer, and the effective therapy is unclear. This study reports a patient with primary breast and lung cancer carried rare germline R776H and somatic L861Q mutation, who benefit from EGFR TKIs. Her family cancer history review demonstrated that her three out of four sisters with lung cancer were positive for R776H. Interestingly, only her healthy sister had type O blood, different from other sisters with type B blood. Our study provides a meaningful insight into the potential treatment option for patients with germline R776H and somatic L861Q mutation and highlights the importance of next-generation sequencing (NGS) in discovering rare genetic alterations to guide the prevention of genetic disease.
对于具有常见表皮生长因子受体（）突变（外显子19缺失或外显子21 L858R突变）的晚期非小细胞肺癌（NSCLC）患者，酪氨酸激酶抑制剂（TKIs）是标准治疗方法。然而，种系突变在肺癌中极为罕见，有效的治疗方法尚不清楚。本研究报告了一名患有原发性乳腺癌和肺癌的患者，该患者携带罕见的种系R776H和体细胞L861Q突变，受益于EGFR TKIs。她的家族癌症病史回顾显示，她的四个患肺癌的姐妹中有三个R776H呈阳性。有趣的是，只有她健康的姐妹是O型血，与其他B型血的姐妹不同。我们的研究为种系R776H和体细胞L861Q突变患者的潜在治疗选择提供了有意义的见解，并强调了下一代测序（NGS）在发现罕见基因改变以指导遗传疾病预防方面的重要性。
