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Cancer in a drop: Advances in liquid biopsy in 2024

Borea, R.
Saldanha, E. F.
Maheswaran, S.
Nicolo, E.
Singhal, S.
Pontolillo, L.
de Miguel Perez, D.
Venetis, K.
Dipasquale, A.
Ghazali, N.
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Abstract
Over the past decade, liquid biopsy (LB) has emerged as a key tool in oncology. Its utility in non-invasive sampling and real-time monitoring has made it a cornerstone in precision medicine. Since 2020, publications on LB in solid tumors have doubled, underscoring its pivotal role in advancing cancer care. Notably, 2024 marked a peak in scientific papers on this topic. Blood remained the most studied biofluid, with circulating tumor DNA (ctDNA) as the most frequently analyzed analyte, followed by circulating tumor cells, extracellular vesicles, and microRNAs. Among tumor types, gastrointestinal, lung, breast, and genitourinary cancers were the most investigated, collectively accounting for more than half of the studies. Early cancer and minimal residual disease detection are critical areas of interest, emphasizing the expanding potential of fragmentomics and methylation profiling, as well as the prognostic significance of ctDNA across various cancer types. Moreover, serial ctDNA monitoring demonstrated the ability to predict relapse and guide treatment (de)-escalation strategies. In metastatic setting, ctDNA profiling plays a crucial role in capturing tumor heterogeneity, detecting resistance mechanisms, and informing treatment selection. Non-blood biofluids gained interest for their potential to enhance the detection of clinically relevant alterations in different cancer types such as central nervous system and head and neck cancers. Other than biomarkers selection, the technological advancements and artificial intelligence significantly improved the sensitivity and specificity of LB assays. This evidence in combination with the rapid advancement of machine learning and other computational approaches, are paving the way for a new chapter of LB research.
Affiliation
Department of Public Health, University Federico II of Naples, Naples, Italy; Department of Internal Medicine and Medical Sciences (DiMI), School of Medicine, University of Genova, Genova, Italy; International Society of Liquid Biopsy (ISLB) Young Committee, Spain. International Society of Liquid Biopsy (ISLB) Young Committee, Spain; Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, University of Toronto, ON, Canada. International Society of Liquid Biopsy (ISLB) Young Committee, Spain; Departments of Medicine and Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. International Society of Liquid Biopsy (ISLB) Young Committee, Spain; Liquid Biopsy Platform, Department of Medicine, Weill Cornell Medicine, Englander Institute for Precision Medicine, New York Presbyterian Hospital, New York, NY 10021, USA. International Society of Liquid Biopsy (ISLB) Young Committee, Spain; Division of Hematology and Oncology, Department of Medicine, University of California Davis Comprehensive Cancer Center, Sacramento, CA 95817, USA. International Society of Liquid Biopsy (ISLB) Young Committee, Spain; Liquid Biopsy Platform, Department of Medicine, Weill Cornell Medicine, Englander Institute for Precision Medicine, New York Presbyterian Hospital, New York, NY 10021, USA; Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Largo Francesco Vito, Rome 00168, Italy. International Society of Liquid Biopsy (ISLB) Young Committee, Spain; Center for Thoracic Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY 10029, USA. International Society of Liquid Biopsy (ISLB) Young Committee, Spain; Division of Pathology, IEO European Institute of Oncology IRCCS, Milan 20141, Italy. International Society of Liquid Biopsy (ISLB) Young Committee, Spain; Medical Oncology and Hematology Unit, IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy. International Society of Liquid Biopsy (ISLB) Young Committee, Spain; Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre (PMCC), University Health Network (UHN), Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada. Department of Public Health, University Federico II of Naples, Naples, Italy; International Society of Liquid Biopsy (ISLB) Young Committee, Spain. International Society of Liquid Biopsy (ISLB) Young Committee, Spain; Medical Oncology, The Christie NHS Foundation Trust, Manchester M20 4BX, United Kingdom. International Society of Liquid Biopsy (ISLB) Young Committee, Spain; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. International Society of Liquid Biopsy (ISLB) Young Committee, Spain; Liquid Biopsy Platform, Department of Medicine, Weill Cornell Medicine, Englander Institute for Precision Medicine, New York Presbyterian Hospital, New York, NY 10021, USA. Electronic address: car4012@med.cornell.edu.
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2025
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Article
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Borea R, Saldanha EF, Maheswaran S, Nicolo E, Singhal S, Pontolillo L, et al. Cancer in a drop: Advances in liquid biopsy in 2024. Crit Rev Oncol Hematol. 2025 Sep;213:104776. PubMed PMID: 40447209. Epub 2025/05/31. eng.
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