Review
Biochemistry & Molecular Biology
Jonathan Dao, Patrick J. Conway, Baskaran Subramani, Devi Meyyappan, Sammy Russell, Daruka Mahadevan
Summary: The detection of circulating tumor DNA (ctDNA) in liquid biopsy samples is being used in clinical trials for oncological management. Various companies are developing ctDNA-based liquid biopsy kits to improve convenience, accuracy, and cost compared to solid biopsies and other markers. While the technology for differentiating ctDNA and cell-free DNA (cfDNA) continues to improve, standardization and sensitivity issues need to be addressed before liquid biopsies can be recommended for everyday clinical management.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Clinical Neurology
Hallie Gaitsch, Robin J. M. Franklin, Daniel S. Reich
Summary: This article reviews recent developments in the application of cell-free DNA-based liquid biopsies to neurological diseases, including CNS tumours, stroke, traumatic brain injury, Alzheimer's disease, epilepsy, multiple sclerosis, and neuroinfectious disease. The article discusses the types of liquid biopsy targets, methods used to identify and probe potential liquid biomarkers, and recent applications of such biomarkers to a variety of complex neurological conditions. The challenges and opportunities for translating liquid biopsies to use in clinical neurology settings are also discussed.
Article
Oncology
Josep Guma, Karla Pena, Francesc Riu, Carmen Guilarte, Anna Hernandez, Clara Lucia, Francisca Martinez-Madueno, Maria Jose Miranda, Ines Cabezas, Marc Grifoll, Sergio Peralta, Sara Serrano, Felix Munoz, Lola Delamo, Barbara Roig, Joan Borras, Joan Badia, Marta Rodriguez-Balada, David Parada
Summary: Liquid biopsy is a minimally invasive tool that plays an important role in early identification of treatment selection, resistance to cancer treatment, and routine follow-up in cancer patients. It has significantly improved over the last decade and is attracting attention as a tool to evaluate the genetic landscape of solid tumors. This study confirms the value of liquid biopsy in routine clinical oncology practice for targeted therapy, diagnosis of resistance to treatment, and cancer follow-up.
Article
Genetics & Heredity
Dora Raos, Davor Orsolic, Silvija Masic, Miroslav Tomic, Jure Krasic, Igor Tomaskovic, Nora Nikolac Gabaj, Nina Gelo, Zeljko Kastelan, Tomislav Kulis, Ana Katusic Bojanac, Anja Baresic, Monika Ulamec, Davor Jezek, Nino Sincic
Summary: This study investigated the potential of cfDNA methylation as noninvasive biomarkers for the management of seminoma patients. Specific CpG sites were identified as possible seminoma markers through comparison with samples from healthy volunteers. However, receiver operating characteristic curve analysis showed modest results. Further analysis revealed two DNA methylation panels that could potentially serve as screening markers for seminoma.
Review
Medicine, General & Internal
Yi-Ze Li, Sheng-Nan Kong, Yun-Peng Liu, Yue Yang, Hong-Mei Zhang
Summary: More and more clinical trials are exploring the use of liquid biopsy in diagnosing and treating EGFR-mutated NSCLC. Liquid biopsy has unique advantages in detecting therapeutic targets, analyzing drug resistance mechanisms, and monitoring minimal residual disease (MRD). However, more evidence is needed to support its clinical application. This review focuses on the latest progress in research on targeted therapy efficacy, resistance mechanisms, and MRD evaluation using plasma ctDNA detection.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
David Braig, Alexander Runkel, Anja E. Eisenhardt, Adrian Schmid, Johannes Zeller, Thomas Pauli, Ute Lausch, Julius Wehrle, Peter Bronsert, Matthias Jung, Jurij Kiefer, Melanie Boerries, Steffen U. Eisenhardt
Summary: Quantification of circulating tumor DNA (ctDNA) can be used for early detection of recurrence or metastasis and monitoring treatment response in soft tissue sarcomas (STS). This may provide survival benefits for patients through early treatment decisions and prompt adjustment of therapy in case of no response.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Oncology
Diamantis Tsilimigras, Ioannis Ntanasis-Stathopoulos, Timothy M. Pawlik
Summary: Liquid biopsies have gained attention in the field of oncologic surgery and can improve prognostication and monitor disease evolution. Although not currently standard of care, liquid biopsies have shown promising results in the treatment of CRLM patients.
Article
Pathology
Andrea Moreno-Manuel, Silvia Calabuig-Farinas, Antonia Obrador-Hevia, Ana Blasco, Amaya Fernandez-Diaz, Rafael Sirera, Carlos Camps, Eloisa Jantus-Lewintre
Summary: In oncology, precision medicine has been achieved through biomarker-driven therapies and the use of liquid biopsy technology, particularly through the sensitive and efficient detection method of digital PCR (dPCR). Despite some challenges like multiplexing capacity and protocol standardization, dPCR is considered one of the most sensitive methods for LB analysis and complements next generation sequencing (NGS) in treatment monitoring and minimal residual disease assessment.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2021)
Review
Oncology
Ayanthi A. Wijewardene, Marthe Chehade, Matti L. Gild, Roderick J. Clifton-Bligh, Martyn Bullock
Summary: Liquid biopsies are a novel technique that assess for circulating tumor cells (CTC), circulating tumor DNA (ctDNA), and microRNA in peripheral blood samples of cancer patients. The diagnostic role of liquid biopsy in oncology has expanded in recent years, especially in lung, colorectal, and breast cancer. In thyroid cancer, liquid biopsy's role in diagnosis or prognosis is transitioning from the lab to clinical practice.
Article
Oncology
Ruben Van Paemel, Charlotte Vandeputte, Lennart Raman, Jolien Van Thorre, Leen Willems, Jo Van Dorpe, Malaika Van der Linden, Jilke De Wilde, Andries De Koker, Bjorn Menten, Christine Devalck, Ales Vicha, Marek Grega, Gudrun Schleiermacher, Yasmine Iddir, Mathieu Chicard, Lieke van Zogchel, Janine Stutterheim, Nathalie S. M. Lak, G. A. M. Tytgat, Genevieve Laureys, Frank Speleman, Bram De Wilde, Tim Lammens, Katleen De Preter, Nadine Van Roy
Summary: There is a good agreement between DNA copy number alterations (CNAs) in tissue DNA and circulating cell-free DNA (cfDNA) obtained from liquid biopsies. The quality of cfDNA sample can affect the concordance between tissue DNA and cfDNA CNAs. Liquid biopsies can provide complementary analysis to tissue biopsies, as both cfDNA and tissue DNA can contain CNAs that cannot be identified in the other biomaterial.
EUROPEAN JOURNAL OF CANCER
(2022)
Review
Oncology
W. Yu, J. Hurley, D. Roberts, S. K. Chakrabortty, D. Enderle, M. Noerholm, X. O. Breakefield, J. K. Skog
Summary: Liquid biopsy in cancer research has seen significant progress, with efforts focused on utilizing circulating tumor cells, circulating tumor DNA, and extracellular vesicles like exosomes. Exosomes, as part of the intercellular communication system, carry tumor-derived materials and can serve as stable biomarkers for early detection and monitoring of cancer.
ANNALS OF ONCOLOGY
(2021)
Article
Oncology
Lieke M. J. van Zogchel, Nathalie S. M. Lak, Nina U. Gelineau, Irina Sergeeva, Ellen Stelloo, Joost Swennenhuis, Harma Feitsma, Max van Min, Erik Splinter, Margit Bleijs, Marian Groot Koerkamp, Willemijn Breunis, Michael Torsten Meister, Waleed Hassan Kholossy, Frank C. P. Holstege, Jan J. Molenaar, Wendy W. J. de Leng, Janine Stutterheim, C. Ellen van der Schoot, Godelieve A. M. Tytgat
Summary: We demonstrate the feasibility to use tumor-specific breakpoints to design patient-specific markers for detection of cfDNA in pediatric solid tumors. This approach successfully detects patient-specific markers in diagnostic plasma samples and tracks tumor burden in neuroblastoma patients. Further study in a larger cohort with standardized plasma sampling protocols is warranted.
FRONTIERS IN ONCOLOGY
(2023)
Article
Gastroenterology & Hepatology
Chase J. Wehrle, Roma Raj, Nihal Aykun, Danny Orabi, Bassam Estfan, Suneel Kamath, Smitha Krishnamurthi, Masato Fujiki, Koji Hashimoto, Cristiano Quintini, David Choon Hyuck Kwon, Teresa Diago-Uso, Kazunari Sasaki, Federico N. Aucejo
Summary: Colorectal cancer is a leading cause of cancer-related death worldwide. Liver transplantation is emerging as a valid surgical option for selected patients with unresectable colorectal cancer liver metastases (CRLM). However, the utility and significance of liquid biopsy ctDNA in evaluating residual disease in these patients remains unclear. This study aimed to evaluate the peri-operative assessment of ctDNA in patients undergoing liver transplantation for CRLM.
JOURNAL OF GASTROINTESTINAL SURGERY
(2023)
Article
Oncology
Hector Martinez-Gregorio, Clara Diaz-Velasquez, Mario Esau Romero-Pina, Miguel Ruiz de la Cruz, Norma Laura Delgado-Buenrostro, Aldo De la Cruz-Montoya, Yolanda Irasema Chirino, Luis Ignacio Terrazas, Luis Alberto Medina, Felipe Vaca-Paniagua
Summary: This study aims to demonstrate the feasibility of using circulating free DNA (cfDNA) as a liquid biopsy for early detection of colorectal cancer (CRC). The researchers successfully detected mutations in liquid biopsies of early stages of tumor development, providing evidence for the potential use of this method.
Article
Oncology
Bonnita Werner, Kristina Warton, Caroline E. Ford
Summary: Cell-free DNA (cfDNA) is a valuable molecular biomarker in oncology research and treatment, and while its properties in blood have been extensively studied, there is still much to be discovered about cfDNA in other body fluids. Saliva, sputum, cerebrospinal fluid, urine, faeces, pleural effusions, and ascites have unique advantages over blood in terms of cfDNA, making them potential alternatives for liquid biopsies. This review provides an overview of the current knowledge and identifies areas where further research is needed to accelerate the clinical implementation of non-blood liquid biopsies.