The Role of ctDNA in the Management of Non-Small-Cell Lung Cancer in the AI and NGS Era

Int J Mol Sci. 2024 Dec 20;25(24):13669. doi: 10.3390/ijms252413669.

Abstract

Liquid biopsy (LB) involves the analysis of circulating tumour-derived DNA (ctDNA), providing a minimally invasive method for gathering both quantitative and qualitative information. Genomic analysis of ctDNA through next-generation sequencing (NGS) enables comprehensive genetic profiling of tumours, including non-driver alterations that offer prognostic insights. LB can be applied in both early-stage disease settings, for the diagnosis and monitoring of minimal residual disease (MRD), and advanced disease settings, for monitoring treatment response and understanding the mechanisms behind disease progression and tumour heterogeneity. Currently, LB has limited use in clinical practice, primarily due to its significant costs, limited diagnostic yield, and uncertain prognostic role. The application of artificial intelligence (AI) in the medical field is a promising approach to processing extensive information and applying it to individual cases to enhance therapeutic decision-making and refine risk assessment.

Keywords: NGS; NSCLC; artificial intelligence; ctDNA; liquid biopsy.

Publication types

  • Review

MeSH terms

  • Artificial Intelligence*
  • Biomarkers, Tumor* / genetics
  • Carcinoma, Non-Small-Cell Lung* / diagnosis
  • Carcinoma, Non-Small-Cell Lung* / genetics
  • Carcinoma, Non-Small-Cell Lung* / therapy
  • Circulating Tumor DNA* / blood
  • Circulating Tumor DNA* / genetics
  • High-Throughput Nucleotide Sequencing* / methods
  • Humans
  • Liquid Biopsy / methods
  • Lung Neoplasms* / diagnosis
  • Lung Neoplasms* / genetics
  • Lung Neoplasms* / pathology
  • Lung Neoplasms* / therapy
  • Prognosis

Substances

  • Circulating Tumor DNA
  • Biomarkers, Tumor