College of Medicine, Chang Gung University, Taoyuan 333, Taiwan.
Chang Gung Memorial Hospital at Linkou, Taoyuan 333, Taiwan.
Int J Mol Sci. 2024 Jul 25;25(15):8124. doi: 10.3390/ijms25158124.
Lung cancer is the leading cause of cancer mortality worldwide. Fortunately, the advent of precision medicine, which includes targeted therapy and immunotherapy, offers hope. However, identifying specific mutations is imperative before initiating precise medications. Traditional methods, such as real-time PCR examination of individual mutations, are time-consuming. Contemporary techniques, such as tissue- and plasma-based next-generation sequencing (NGS), allow comprehensive genome analysis concurrently. Notably, plasma-based NGS has a shorter turnaround time (TAT) and thus a shorter time-to-treatment (TTT). In this case report, we demonstrate the benefits of plasma-based NGS before pathological diagnosis in a patient with image-suspected non-small cell lung cancer (NSCLC). An 82-year-old Taiwanese woman presented with lower back pain persisting for one month and left-sided weakness for two weeks. Whole-body computed tomography (CT) revealed lesions suspicious for brain and bone metastases, along with a mass consistent with a primary tumor in the left upper lobe, indicative of advanced NSCLC with T4N3M1c staging. The patient underwent a bronchoscopic biopsy on Day 0, and the preliminary report that came out on Day 1 was suggestive of metastatic NSCLC. Blood was also collected for plasma-based NGS on Day 0. The patient was Coronavirus disease 2019-positive and was treated with molnupiravir on Day 6. On Day 7, pathology confirmed pulmonary adenocarcinoma, and the results of plasma-based NGS included EGFR L858R mutation. The patient was started on targeted therapy (afatinib) on Day 9. Unfortunately, the patient died of hypoxic respiratory failure on Day 26, a complication of underlying viral infection. Plasma-based NGS offers a rapid and efficient means of mutation detection in NSCLC, streamlining treatment initiation and potentially improving the negative emotions of patients. Its utility, particularly in regions with a high prevalence of specific mutations, such as EGFR alterations in East Asian populations, highlights its relevance in guiding personalized therapy decisions.
肺癌是全球癌症死亡的主要原因。幸运的是，精准医学的出现带来了希望，其中包括靶向治疗和免疫疗法。然而，在开始精确药物治疗之前，确定特定的突变是至关重要的。传统方法，如实时 PCR 检查个别突变，既耗时又费力。当代技术，如组织和基于血浆的下一代测序（NGS），可以同时进行全面的基因组分析。值得注意的是，基于血浆的 NGS 具有更短的周转时间（TAT），因此治疗时间（TTT）更短。在本病例报告中，我们展示了在疑似非小细胞肺癌（NSCLC）的患者中，在进行病理诊断之前使用基于血浆的 NGS 的优势。一位 82 岁的台湾女性因持续一个月的腰痛和两周的左侧无力就诊。全身计算机断层扫描（CT）显示出脑和骨转移的可疑病变，以及左上叶与原发性肿瘤一致的肿块，提示为 T4N3M1c 期晚期 NSCLC。患者于第 0 天接受了支气管镜活检，第 1 天的初步报告提示转移性 NSCLC。第 0 天还采集了血液进行基于血浆的 NGS。患者 COVID-19 检测呈阳性，并于第 6 天开始接受莫努匹韦治疗。第 7 天，病理证实为肺腺癌，基于血浆的 NGS 结果包括 EGFR L858R 突变。患者于第 9 天开始接受靶向治疗（阿法替尼）。不幸的是，患者于第 26 天因基础病毒感染导致的缺氧性呼吸衰竭死亡。基于血浆的 NGS 提供了一种快速有效的 NSCLC 突变检测方法，简化了治疗的启动，并且可能改善患者的负面情绪。其在具有特定突变高发率的地区，如东亚人群中的 EGFR 改变，具有重要的指导个性化治疗决策的相关性。
