Liquid biopsy in cancer diagnosis and prognosis: a paradigm shift in precision oncology
Rayane da Silva Abreu, Danielle Dias Pinto Ferreira, Natássia Silva de Araújo, Samuel Iwao Maia Horita, Tatiana Martins Tilli, Wim Degrave, Aline dos Santos Moreira, Mariana Caldas Waghabi
Abstract
Liquid biopsy has emerged as a transformative tool in precision oncology, offering a minimally invasive approach for cancer detection, monitoring, and treatment guidance. Unlike traditional tissue biopsies, which are invasive and limited by tumor accessibility and sampling bias, liquid biopsy enables real-time tumor assessment through the analysis of circulating biomarkers in blood and other biofluids. This review provides a comprehensive overview of recent advances in liquid biopsy, with a focus on circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), non-coding RNAs, extracellular vesicles (exosomes), and secreted proteins. These biomarkers offer valuable insights into tumor biology, supporting applications in early diagnosis, prognosis, treatment response monitoring, and minimal residual disease detection across various cancer types. We also discuss state-of-the-art methodologies, including next-generation sequencing, digital PCR, microfluidics, proteomics, and emerging artificial intelligence-based approaches that enhance the sensitivity, specificity, and scalability of liquid biopsy assays. Clinical studies demonstrate the potential of liquid biopsy for tailoring targeted therapies, predicting resistance mechanisms, and identifying tumor recurrence earlier than conventional methods. Furthermore, FDA-approved assays and ongoing phase III and IV clinical trials highlight its growing integration into routine clinical practice. Beyond technical innovations, this review examines the global landscape of liquid biopsy, emphasizing opportunities and challenges for implementation across diverse healthcare settings. Disparities in access, particularly between high-income and low- and middle-income countries, underscore the need for strategies that ensure equitable adoption of liquid biopsy technologies worldwide. In summary, liquid biopsy represents a paradigm shift in oncology, bridging innovations in cancer diagnostics with clinical applications. By enabling dynamic, personalized, and less invasive cancer management, it holds great promise for improving patient outcomes and advancing precision medicine.