Lai Sunny Y, Richardson Noah H, Tran Mya, Hanna Nasser H, Shields Misty D
Division of Hematology/Oncology, Department of Medicine, Indiana University, Indianapolis, Indiana.
JTO Clin Res Rep. 2024 Feb 19;5(4):100652. doi: 10.1016/j.jtocrr.2024.100652. eCollection 2024 Apr.
mutations are among the most common driver mutations in lung adenocarcinoma. Rare alterations, such as the fusion, respond to treatment with EGFR tyrosine kinase inhibitors but can be missed by limited genomic sequencing panels. Here, we report a case of metastatic lung adenocarcinoma in a never-smoker patient who initially did not have a targetable alteration identified on two different sequencing panels. The initial response to combination chemoimmunotherapy was short-lived. A rare fusion was then identified using a more in-depth sequencing panel. The patient experienced a dramatic and durable response to osimertinib. This case highlights the rarity of fusions, the efficacy of EGFR tyrosine kinase inhibitors, and the importance of a thorough search for targetable alterations in never-smokers with lung adenocarcinoma.
突变是肺腺癌中最常见的驱动突变之一。罕见的改变，如融合，对EGFR酪氨酸激酶抑制剂治疗有反应，但可能会被有限的基因组测序面板遗漏。在此，我们报告一例从不吸烟患者的转移性肺腺癌病例，该患者最初在两个不同的测序面板上均未发现可靶向改变。联合化疗免疫疗法的初始反应是短暂的。随后使用更深入的测序面板鉴定出一种罕见的融合。该患者对奥希替尼产生了显著且持久的反应。该病例突出了融合的罕见性、EGFR酪氨酸激酶抑制剂的疗效，以及对从不吸烟的肺腺癌患者彻底寻找可靶向改变的重要性。
