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Pathologists and liquid biopsies: to be or not to be?

Recently, the advent of therapies targeting genomic alterations has improved the care of patients with certain types of cancer. While molecular targets were initially detected in nucleic acid samples extracted from tumor tissue, detection of nucleic acids in circulating blood has allowed the development of what has become known as liquid biopsies, which provide a complementary and alternative sample source allowing identification of genomic alterations that might be addressed by targeted therapy. Consequently, liquid biopsies might rapidly revolutionize oncology practice in allowing administra

Liquid biopsy in lung cancer.

Precision medicine based on biomarkers, such as genetic abnormalities and PD-L1 expression, has been established for the treatment of nonsmall cell lung cancer. Recently, liquid biopsy has emerged as a valuable and minimally invasive alternative. This method analyzes blood and other bodily fluids to detect cancer-related genetic abnormalities and molecular residual disease (MRD). Liquid biopsy, which includes testing for circulating tumor cells, circulating tumor DNA (ctDNA), and microRNA (miRNA), offers several advantages over conventional methods. It is minimally invasive, can be performed r…

Liquid biopsy in lung cancer.

Lung cancer is the leading cause of cancer-related mortality worldwide, with nonsmall cell lung cancer (NSCLC) accounting for the majority of cases. Despite advancements in therapeutics, outcomes remain poor due to late-stage diagnoses and the molecular complexity of the disease. Liquid biopsy, a minimally invasive diagnostic approach, has emerged as a potentially transformative tool in lung cancer. The detection of tumour-derived biomarkers, such as circulating-tumour DNA, circulating tumour cells and exosomes, can be analysed for molecular profiling, early detection and monitoring of disease…

Liquid biopsy in lung cancer.

Lung cancer is a highly prevalent malignancy worldwide and the primary cause of mortality. The absence of systematic and standardized diagnostic approaches for identifying potential pulmonary nodules, early-stage cancers, and indeterminate tumors has led clinicians to consider tissue biopsy and pathological sections as the preferred method for clinical diagnosis, often regarded as the gold standard. The conventional tissue biopsy is an invasive procedure that does not adequately capture the diverse characteristics and evolving nature of tumors. Recently, the concept of 'liquid biopsy' has gain…

Liquid biopsy in ovarian cancer.

Ovarian cancer has the worst survival rate because it is typically diagnosed at advanced stage. Despite treatment, the disease commonly recurs due to chemo-resistance. Liquid biopsy, based on minimally invasive blood tests, has the advantage of following tumor evolution in real time, offering novel insights on cancer prevention and treatment. Circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), circulating cell-free microRNAs (cfmiRNAs) and circulating exosomes represent the major components of liquid biopsy. In this chapter, we provide an overview of recent research on CTCs, ctDNA, …

Liquid biopsy in ovarian cancer.

Ovarian cancer is typically diagnosed at an advanced stage and poses a significant challenge to treatment and recovery. Relapsed ovarian cancer and chemoresistance of ovarian tumor cells are other clinical challenges. Liquid biopsy is an essential non-invasive diagnostic test that evaluates circulating tumor cells and tumor DNA, as well as other blood markers that may be useful in guiding precision medicine. Although liquid biopsy is not a routinely used diagnostic test, the potential applications in the diagnosis and prognosis in ovarian cancer are rapidly growing. This review explores recent…

Cholangiocarcinoma: The era of liquid biopsy.

Cholangiocarcinoma (CCA) is a highly aggressive and heterogeneous malignancy arising from the epithelial cells of the biliary tract. The limitations of the current methods in the diagnosis of CCA highlight the urgent need for new, accurate tools for early cancer detection, better prognostication and patient monitoring. Liquid biopsy (LB) is a modern and non-invasive technique comprising a diverse group of methodologies aiming to detect tumour biomarkers from body fluids. These biomarkers include circulating tumour cells, cell-free DNA, circulating tumour DNA, RNA and extracellular vesicles. Th…

Liquid biopsies in myeloid malignancies.

Hematologic malignancies are the most common type of cancer affecting children and young adults, and encompass diseases, such as leukemia, lymphoma, and myeloma, all of which impact blood associated tissues such as the bone marrow, lymphatic system, and blood cells. Clinical diagnostics of these malignancies relies heavily on the use of bone marrow samples, which is painful, debilitating, and not free from risks for leukemia patients. Liquid biopsies are based on minimally invasive assessment of markers in the blood (and other fluids) and have the potential to improve the efficacy of diagnosti

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… Liquid biopsy: monitoring cancergenetics in the blood. Nat Rev Clin Oncol. 2013;10:472–84. doi: 10.1038/nrclinonc.2013.110. 48. Perakis S, Speicher MR. Emerging concepts in liquid biopsies. BMC Med. 2017;15:75. doi: 10.1186/s12916-017-0840-6. 49. Siravegna G, Marsoni S, Siena S, Bardelli A. … The potential of liquid biopsies. Curr Opin Oncol. 2016;28:130–4. doi: 10.1097/CCO.0000000000000267. 52. Rolfo C, Castiglia M, Hong D, Alessandro R, Mertens I, et al. Liquid biopsies in lung cancer: the new ambrosia of researchers. …

Liquid Biopsy in Advanced Prostate Cancer.

Liquid biopsy has emerged as a transformative tool in oncology, enabling minimally invasive and dynamic characterization of tumor biology. In prostate cancer, marked by high heterogeneity and frequent bone metastases, tissue biopsy is often challenging, highlighting the clinical value of circulating biomarkers. Circulating tumor DNA (ctDNA) is the most clinically advanced analyte, supporting detection of actionable alterations such as BRCA1/2 and ATM mutations, guiding targeted therapies, and enabling real-time monitoring of treatment response and resistance. Circulating tumor cells (CTCs) and…

Novel Liquid Biopsy in Gastrointestinal Cancers.

Gastrointestinal (GI) cancers represent a significant global health burden, being among the leading causes of cancer-related deaths. The pro … neity within tumors, as mutations can differ between primary and metastatic sites. In this context, liquid biopsy has emerged as a promising, minimally invasive alternative for detecting cancer-associated materials present in various body fluids. The concept of liquid biopsy, initially centered on circulating tumor cells, has expanded to encompass other critica …

Targeted liquid biopsy for brain tumors.

Cerebrospinal fluid (CSF) is a promising source of molecular biomarkers in the detection and monitoring of brain malignancies. Unlike periph … he presence of ctDNA in CSF is notably higher than in plasma, making CSF an advantageous medium for liquid biopsy in brain tumor patients. Traditional liquid biopsy approaches relying on peripheral venous blood samples often face challenges in detecting low concentrations of tumor-derived biomarkers. The direct contact of CSF with the CNS minimizes background n …

Liquid biopsy in renal cell carcinoma.

This commentary focuses on the article by Correa et al on the association of circulating tumor DNA with patient prognosis in renal cell carcinoma.

Liquid biopsy in non-Hodgkin's lymphoma.

ctDNA provides an important new strategy that will aid in the treatment of non-Hodgkin's lymphoma. Immunoglobulin sequencing provides a tumor specific marker for disease activity with a sensitivity equivalent to one tumor cell per 10-6. Furthermore, it can provide an estimate of tumor bulk and tumor response dynamics during treatment. Interim monitoring can identify patients at high risk of treatment failure and surveillance monitoring can identify patients months before radiographic disease progression. Tumor specific mutations can also be detected in ctDNA and may reflect an averaging of mut

Liquid biopsy in lung cancer management.

Liquid biopsy is a promising tool for a better cancer management and currently opens perspectives for several clinical applications, such as detection of mutations when the analysis from tissue is not available, monitoring tumor mutational burden and prediction of targeted therapy response. These characteristics validate liquid biopsy analysis as a strong cancer biomarkers source with high potential for improving cancer patient's evolution. Compared to classical biopsy, liquid biopsy is a minimal invasive procedure, and it allows the real-time monitoring of treatment response. Considering that…

Liquid biopsy in tissue-born lymphomas.

In the era of personalised medicine, genetic information is critical to directing therapeutic options, aiding risk stratification and disease monitoring of lymphomas. Liquid biopsy is a novel noninvasive, real-time and tumour-specific technique, reliably reflecting the comprehensive tumour genetic profile, and thus holds great promise for the genetic assessment, response monitoring and relapse detection of lymphomas. Standard methods for disease response assessment in patients with lymphoma, including positron emission tomography, are imperfect. In other haematological malignancies, particular…

Liquid biopsy to monitor melanoma patients.

During the last six years, several innovative, systemic therapies for the treatment of metastatic malignant melanoma (MM) have emerged. Conv … nd circulating tumor DNA (ctDNA) that can be detected and quantified from peripheral blood samples (liquid biopsy). For melanoma patients, liquid biopsy results may be useful as novel predictive biomarkers to guide therapeutic decisions, particularly in the context of mutation-based targeted therapies. The challenges of using liquid biopsy include strict criter …

Liquid Biopsy and Potential Liquid Biopsy-Based Biomarkers in Philadelphia-Negative Classical Myeloproliferative Neoplasms: A Systematic Review.

Myeloproliferative neoplasms (MPNs) are rare, clonal disorders of the hematopoietic stem cell in which an uncontrolled proliferation of terminally differentiated myeloid cells is noted. Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are included in the category of Philadelphia-negative, so-called classical MPNs. The potential applications of liquid biopsy and liquid biopsy-based biomarkers have not been explored in MPNs until now. Thus, a systematic search was computed in PubMed/MEDLINE, Web of Science and The Cochrane Library and, in total, 198 potentia…

Liquid biopsy in oncology practice: A global survey by the Young Committee of the International Society of Liquid Biopsy (ISLB).

BACKGROUND: Liquid biopsy is a transformative tool for precision oncology, yet its clinical use remains variable across healthcare systems, and barriers to its implementation are poorly characterized. This survey aims to assess perceptions and practices related to liquid biopsy in oncology practice worldwide. METHODS: A cross sectional, web-based survey was distributed to oncology providers worldwide from November 2024 to December 2025. The survey captured clinical practice characteristics, liquid biopsy uses and workflows, interpretation practices, reimbursement patterns, molecular tumor boa…

Liquid biopsy: current applications and future directions.

This review starts with the historical background and biological features to classify mainly the liquid biopsy biomarkers, such as circulating tumor DNA, circulating tumor cells, extracellular vesicles, non-coding RNAs, tumor-educated platelets and tumor-associated antigens, and also summarizes the present classification approaches and advanced detection techniques for each biomarker type. On this basis, the potential clinical uses of liquid biopsy in oncology are discussed in detail, including the early cancer detection, the prediction of the responses to chemotherapy, radiotherapy and immuno…