Alanazi Lafi, Alqahtani Ryan N, Masud Nazish, Zuraie Meshal M, Bin Afif Abdulrahman A, Alanazi Sulaiman H
Internal Medicine, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, SAU.
Research, King Abdullah International Medical Research Center, Riyadh, SAU.
Cureus. 2022 Jan 3;14(1):e20914. doi: 10.7759/cureus.20914. eCollection 2022 Jan.
Background Lung cancer is the most fatal malignancy worldwide, characterized by uncontrolled growth in the tissue of the lung(s). The diagnosis of lung cancer depends on the medical history of the patient, along with the physical examination, and various imaging studies. Furthermore, sputum cytology, thoracentesis, or a tissue and liquid biopsy can be examined. The TNM (tumor size, lymph nodes, and metastasis) system is used for staging and grading lung cancer. This study aimed to evaluate the role of tissue vs liquid biopsy in the clinical management of adenocarcinoma, at King Abdulaziz Medical City, Riyadh. Methods In this cross-sectional study, all adenocarcinoma patients treated between January 2016 to December 2018 were included using consecutive sampling. The participants were ≥ 18 years old patients with histologically confirmed adenocarcinoma (stage IIIb/IV) regardless of the mutation status. This data was collected through chart review. Data analysis was performed using the IBM Statistical Software for Social Sciences (SPSS) software, version 22 (IBM SPSS Statistics for Windows, Armonk, NY). Results A total of 58 participants were included in the analysis. All of them had undergone a tissue biopsy, while only 16 patients underwent liquid biopsy. Out of all patients, 26% of patients had tissue biopsy-related complications (TBRC), with pneumothorax being the most common complication. Single gene testing for epidermal growth factor receptor (EGFR) for patients who underwent tissue biopsy showed a 35% mutation rate. For the anaplastic lymphoma kinase (ALK) gene, 13% were found to be mutated; for the ROS proto-oncogene 1 (ROS1) gene, only 7% were seen to be mutated. For a panel of 12 genes, 25% had the tumor protein 53 (TP53) gene mutation and 39% had the gene Kirsten rat sarcoma viral oncogene homolog (KRAS) mutations. For patients who underwent a liquid biopsy, 20% had the TP53 mutation, 43% had the EGFR mutations on a single gene test and 42% on a panel test, and 10% had the KRAS mutation. Conclusion We found that tissue and liquid biopsy showed genetic mutations, particularly with EGFR, TP53, and KRAS genes, among adenocarcinoma patients. Identifying genetic changes in adenocarcinoma patients is essential for charting a targeted therapy. Primary EGFR mutations and rearrangements of ALK or ROS1 are the only gene mutations that can be done with specific tyrosine kinase inhibitors available for clinical practice. Therefore, we recommend further studies to evaluate the role of tissue and liquid biopsy in clinical practice.
肺癌是全球最致命的恶性肿瘤,其特征是肺部组织不受控制地生长。肺癌的诊断取决于患者的病史、体格检查以及各种影像学检查。此外,还可以检查痰细胞学、胸腔穿刺术或组织及液体活检。TNM(肿瘤大小、淋巴结和转移)系统用于肺癌的分期和分级。本研究旨在评估组织活检与液体活检在利雅得阿卜杜勒阿齐兹国王医疗城腺癌临床管理中的作用。
在这项横断面研究中,采用连续抽样纳入了2016年1月至2018年12月期间接受治疗的所有腺癌患者。参与者为年龄≥18岁、组织学确诊为腺癌(IIIb/IV期)的患者,无论其突变状态如何。这些数据通过病历审查收集。使用IBM社会科学统计软件(SPSS)22版(IBM SPSS Statistics for Windows,纽约州阿蒙克)进行数据分析。
共有58名参与者纳入分析。他们都接受了组织活检,而只有16名患者接受了液体活检。在所有患者中,26%的患者发生了组织活检相关并发症(TBRC),气胸是最常见的并发症。接受组织活检的患者进行表皮生长因子受体(EGFR)单基因检测显示突变率为35%。对于间变性淋巴瘤激酶(ALK)基因,发现13%发生了突变;对于ROS原癌基因1(ROS1)基因,仅7%被发现发生了突变。对于一组12个基因,25%有肿瘤蛋白53(TP53)基因突变,39%有 Kirsten 大鼠肉瘤病毒癌基因同源物(KRAS)基因突变。接受液体活检的患者中,20%有TP53突变,单基因检测中43%有EGFR突变,在一组检测中有42%有EGFR突变,10%有KRAS突变。
我们发现组织活检和液体活检在腺癌患者中均显示出基因突变,尤其是EGFR、TP53和KRAS基因。识别腺癌患者的基因变化对于制定靶向治疗至关重要。原发性EGFR突变以及ALK或ROS1的重排是目前临床实践中可用特定酪氨酸激酶抑制剂治疗的唯一基因突变。因此,我们建议进一步研究以评估组织活检和液体活检在临床实践中的作用。