PDF(Pubmed)
Abstract：
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.
摘要：
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，包括靶向治疗和免疫疗法,提供希望。然而,在开始精确的药物治疗之前，必须确定特定的突变。传统方法,如实时PCR检测个体突变，是耗时的。当代技术,例如基于组织和血浆的下一代测序(NGS)，允许同时进行全面的基因组分析。值得注意的是,基于等离子体的NGS具有较短的周转时间(TAT),因此具有较短的治疗时间(TTT)。在这个案例报告中,我们证明了在1例影像疑似非小细胞肺癌(NSCLC)患者的病理诊断前使用基于血浆的NGS的益处.一名82岁的台湾妇女出现下背部疼痛持续一个月，左侧无力持续两周。全身计算机断层扫描（CT）显示可疑脑和骨转移的病变，与左上叶原发性肿瘤一致的肿块，T4N3M1c分期的晚期非小细胞肺癌。患者在第0天接受支气管镜活检，第1天发表的初步报告提示转移性NSCLC。在第0天还收集血液用于基于血浆的NGS。该患者为2019年冠状病毒病阳性，并在第6天接受了莫努比拉韦治疗。第7天，病理证实肺腺癌，基于血浆的NGS结果包括EGFRL858R突变.患者在第9天开始进行靶向治疗(阿法替尼)。不幸的是,患者在第26天死于缺氧性呼吸衰竭,这是潜在病毒感染的并发症.基于血浆的NGS提供了一种快速有效的NSCLC突变检测方法，简化治疗开始，并有可能改善患者的负面情绪。其效用,特别是在特定突变流行率较高的地区，如东亚人群的EGFR改变，强调了其在指导个性化治疗决策方面的相关性。
