Restrepo Juan Carlos, Martínez Guevara Darly, Pareja López Andrés, Montenegro Palacios John Fernando, Liscano Yamil
Grupo de Investigación en Salud Integral (GISI), Departamento Facultad de Salud, Universidad Santiago de Cali, Cali 760035, Colombia.
Grupo de Investigación Unidad de Toxicidad In Vitro-UTi, Facultad de Ciencias, Universidad CES, Medellin 050021, Colombia.
Cancers (Basel). 2024 Jun 26;16(13):2338. doi: 10.3390/cancers16132338.
Non-small-cell lung cancer (NSCLC) comprises approximately 85% of all lung cancer cases, often diagnosed at advanced stages, which diminishes the effective treatment options and survival rates. This systematic review assesses the utility of emerging biomarkers-circulating tumor DNA (ctDNA), microRNAs (miRNAs), and the blood tumor mutational burden (bTMB)-enhanced by next-generation sequencing (NGS) to improve the diagnostic accuracy, prognostic evaluation, and treatment strategies in NSCLC. Analyzing data from 37 studies involving 10,332 patients from 2020 to 2024, the review highlights how biomarkers like ctDNA and PD-L1 expression critically inform the selection of personalized therapies, particularly beneficial in the advanced stages of NSCLC. These biomarkers are critical for prognostic assessments and in dynamically adapting treatment plans, where high PD-L1 expression and specific genetic mutations (e.g., ALK fusions, EGFR mutations) significantly guide the use of targeted therapies and immunotherapies. The findings recommend integrating these biomarkers into standardized clinical pathways to maximize their potential in enhancing the treatment precision, ultimately fostering significant advancements in oncology and improving patient outcomes and quality of life. This review substantiates the prognostic and predictive value of these biomarkers and emphasizes the need for ongoing innovation in biomarker research.
非小细胞肺癌（NSCLC）约占所有肺癌病例的85%，通常在晚期才被诊断出来，这减少了有效的治疗选择和生存率。本系统评价评估了新兴生物标志物——循环肿瘤DNA（ctDNA）、微小RNA（miRNA）和血液肿瘤突变负荷（bTMB）——通过下一代测序（NGS）增强后在提高NSCLC诊断准确性、预后评估和治疗策略方面的效用。该评价分析了2020年至2024年期间涉及10332名患者的37项研究的数据，强调了ctDNA和PD-L1表达等生物标志物如何对个性化治疗的选择提供关键信息，这在NSCLC晚期尤为有益。这些生物标志物对于预后评估以及动态调整治疗方案至关重要，其中高PD-L1表达和特定基因突变（如ALK融合、EGFR突变）显著指导靶向治疗和免疫治疗的使用。研究结果建议将这些生物标志物纳入标准化临床路径，以最大限度地发挥其在提高治疗精准度方面的潜力，最终推动肿瘤学取得重大进展，改善患者预后和生活质量。本评价证实了这些生物标志物的预后和预测价值，并强调了生物标志物研究持续创新的必要性。
