Vicidomini Giovanni, Cascone Roberto, Carlucci Annalisa, Fiorelli Alfonso, Di Domenico Marina, Santini Mario
Department of Translation Medicine, Thoracic Surgery Unit, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
Department of Precision Medicine, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
Explor Target Antitumor Ther. 2020;1(5):343-354. doi: 10.37349/etat.2020.00020. Epub 2020 Oct 30.
Lung cancer is still one of the main causes of cancer-related death, together with prostate and colorectal cancers in males and breast and colorectal cancers in females. The prognosis for non-small cell lung cancer (NSCLC) is strictly dependent on feasibility of a complete surgical resection of the tumor at diagnosis. Since surgery is indicated only in early stages tumors, it is necessary to anticipate the timing of diagnosis in clinical practice. In the diagnostic and therapeutic pathway for NSCLC, sampling of neoplastic tissue is usually obtained using invasive methods that are not free from disadvantages and complications. A valid alternative to the standard biopsy is the liquid biopsy (LB), that is, the analysis of samples from peripheral blood, urine, and other biological fluids, with a simple and non-invasive collection. In particular, it is possible to detect in the blood different tumor derivatives, such as cell-free DNA (cfDNA) with its subtype circulating tumor DNA (ctDNA), cell-free RNA (cfRNA), and circulating tumor cells (CTCs). Plasma-based testing seems to have several advantages over tumor tissue biopsy; firstly, it reduces medical costs, risk of complications related to invasive procedures, and turnaround times; moreover, the analysis of genes alteration, such as , , , and is faster and safer with this method, compared to tissue biopsy. Despite all these advantages, the evidences in literatures indicate that assays performed on liquid biopsies have a low sensitivity, making them unsuitable for screening in lung cancer at the current state. This is caused by lack of standardization in sampling and preparation of specimen and by the low concentration of biomarkers in the bloodstream. Instead, routinely use of LB should be preferred in revaluation of patients with advanced NSCLC resistant to chemotherapy, due to onset of new mutations.
肺癌仍然是癌症相关死亡的主要原因之一，在男性中与前列腺癌和结直肠癌并列，在女性中与乳腺癌和结直肠癌并列。非小细胞肺癌（NSCLC）的预后严格取决于诊断时肿瘤能否完全手术切除。由于手术仅适用于早期肿瘤，因此在临床实践中提前诊断时机很有必要。在NSCLC的诊断和治疗过程中，肿瘤组织取样通常采用有缺点和并发症的侵入性方法。标准活检的一个有效替代方法是液体活检（LB），即分析外周血、尿液和其他生物体液的样本，采集过程简单且无创。特别是，可以在血液中检测到不同的肿瘤衍生物，如游离DNA（cfDNA）及其亚型循环肿瘤DNA（ctDNA）、游离RNA（cfRNA）和循环肿瘤细胞（CTC）。基于血浆的检测似乎比肿瘤组织活检有几个优点；首先，它降低了医疗成本、与侵入性操作相关的并发症风险和周转时间；此外，与组织活检相比，用这种方法分析基因改变，如 、 、 和 更快、更安全。尽管有所有这些优点，但文献证据表明，液体活检检测的灵敏度较低，使其目前不适用于肺癌筛查。这是由于样本采集和制备缺乏标准化以及血液中生物标志物浓度较低所致。相反，由于新突变的出现，对于对化疗耐药的晚期NSCLC患者进行重新评估时，应优先常规使用LB。
