肺癌（LC）仍然是全球癌症相关死亡的主要原因，这主要是由于其早期阶段无症状以及低剂量计算机断层扫描（LDCT）等当前诊断方法的局限性，这些方法通常会导致肺癌晚期诊断，强调迫切需要能够提高早期检出率的创新微创诊断技术。这篇综述深入探讨了基因组表征和突变分析在增强早期 LC 诊断方面的潜力，探讨了传统诊断方法的现状和局限性，以及液体活检 (LB) 的革命性作用，包括通过片段组学和甲基组学进行游离 DNA (cfDNA) 分析。我们对能够更早检测 LC 的新基因组技术进行了仔细审查，同时对塑造我们在该领域理解的文献进行了详细讨论。尽管基因组表征技术取得了有希望的进展，但仍然存在一些挑战，例如 LC 突变的异质性、下一代测序（NGS）技术的成本高且可及性有限。此外，迫切需要标准化协议来解释突变数据。未来的研究应侧重于克服这些障碍，将这些新颖的诊断方法整合到标准临床实践中，从而可能彻底改变 LC 患者的管理。

Lung Cancer (LC) continues to be a leading cause of cancer-related mortality globally, largely due to the asymptomatic nature of its early stages and the limitations of current diagnostic methods such as Low-Dose Computed Tomography (LDCT), whose often result in late diagnosis, highlighting an urgent need for innovative, minimally invasive diagnostic techniques that can improve early detection rates.This review delves into the potential of genomic characterization and mutational profiling to enhance early LC diagnosis, exploring the current state and limitations of traditional diagnostic approaches and the revolutionary role of Liquid Biopsies (LB), including cell-free DNA (cfDNA) analysis through fragmentomics and methylomics. New genomic technologies that allow for earlier detection of LC are scrutinized, alongside a detailed discussion on the literature that shaped our understanding in this field.Despite the promising advancements in genomic characterization techniques, several challenges remain, such as the heterogeneity of LC mutations, the high cost, and limited accessibility of Next-Generation Sequencing (NGS) technologies. Additionally, there is a critical need of standardized protocols for interpreting mutational data. Future research should focus on overcoming these barriers to integrate these novel diagnostic methods into standard clinical practice, potentially revolutionizing the management of LC patients.