Diagnostic value of liquid biopsy in the era of precision medicine: 10 years of clinical evidence in cancer

Caputo, Vincenza; Ciardiello, Fortunato; Corte, Carminia M. Della; Martini, Giulia; Troiani, Teresa; Napolitano, Stefania

doi:10.37349/etat.2023.00125

Cited by 29 publications

(18 citation statements)

References 380 publications

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“…It is essential to recognize that liquid biopsies are not meant to supplant traditional methods but rather to supplement them, enriching the overall understanding of a patient's cancer journey. 39 , 58 …”

Section: Debunking Liquid Biopsy Myths In a Broader Contextmentioning

confidence: 99%

Beyond blood: Advancing the frontiers of liquid biopsy in oncology and personalized medicine

Bao,

Zhang,

Guo

et al. 2024

Cancer Science

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Liquid biopsy is emerging as a pivotal tool in precision oncology, offering a noninvasive and comprehensive approach to cancer diagnostics and management. By harnessing biofluids such as blood, urine, saliva, cerebrospinal fluid, and pleural effusions, this technique profiles key biomarkers including circulating tumor DNA, circulating tumor cells, microRNAs, and extracellular vesicles. This review discusses the extended scope of liquid biopsy, highlighting its indispensable role in enhancing patient outcomes through early detection, continuous monitoring, and tailored therapy. While the advantages are notable, we also address the challenges, emphasizing the necessity for precision, cost‐effectiveness, and standardized methodologies in its broader application. The future trajectory of liquid biopsy is set to expand its reach in personalized medicine, fueled by technological advancements and collaborative research.

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Section: Debunking Liquid Biopsy Myths In a Broader Contextmentioning

confidence: 99%

Beyond blood: Advancing the frontiers of liquid biopsy in oncology and personalized medicine

Bao,

Zhang,

Guo

et al. 2024

Cancer Science

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“…Body fluids including blood, cerebrospinal fluid (CSF), saliva, urine, and seminal plasma have been used in liquid biopsy method. Common analytes including circulating tumor cells (CTCs), cell-free DNA (cfDNA), circulating tumor DNA (ctDNA), exosome vesicles (Evs), proteins and metabolites were used in liquid biopsy to track molecular alterations [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

Optical spectroscopic analysis of cerebrospinal fluid of human brain tumor using visible resonance Raman spectroscopy

Zhou,

Wu,

Zhang

et al. 2024

Optical Biopsy XXII: Toward Real-Time Spectroscopic Imaging and Diagnosis

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Currently, liquid biopsy method is mainly used for tumor detection based on genomic molecular alterations in vitro. Liquid biopsy is superior to traditional tissue biopsy techniques and its diagnosis time of disease and repeated diagnosis of liquid biopsy are new breakthroughs in clinical application. Liquid biopsy method can be used to detect most human disease based on genetic biomarkers from body fluids, among which, special biomarkers in blood and cerebrospinal fluid (CSF) samples are the main research objects, and have made good achievements in preliminary clinical applications. The application of optical spectroscopy in the field of liquid biopsy has aroused great interest among researchers and demonstrated the potential of its clinical application for oncology. The aim of this study is to reveal the optical spectroscopic characteristics of the main biochemical components of CSF of brain tumor using visible resonance Raman (VRR) spectroscopy ex vivo. Tumor-associated proteins, glucose, lactate and other metabolites released to CSF can be used as markers for liquid biopsy. We studied the VRR spectra of CSF samples from 7 types of brain tumor patients. The characteristic VRR modes that were found and may be used as a combination of multiple analyte biomarkers include amyloid-β and tau protein, excess neurotransmitters such as glutamic acid derived from the exchange with interstitial fluid (ISF), DNA, glucose, lactate, etc. for optical liquid biopsy analyses. Another interesting finding was that CSF of different types of tumors showed different images similar to the crystallization of water under the optical microscope. Considering our previous study, the current study on CSF provides another proof that the VRR system can provide a complete scan region of 200 - 4000cm-1 as a clinical tool for non-invasive diagnosis of brain disease.

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“…The combined use of NGS and liquid biopsy has primarily found application in the study of advanced-stage lung cancer, as plasma levels of ctDNA are more pronounced in these stages. Nevertheless, it has also been explored for screening and early detection in individuals at high risk to ensure appropriate treatment ( 11 , 13 , 14 ). In the context of EGFR mutations, liquid biopsy stands as a valid alternative to tissue samples for molecular testing, with the goal of administering tyrosine kinase inhibitors (TKIs).…”

Section: Introductionmentioning

confidence: 99%

Mutation profile in liquid biopsy tested by next generation sequencing in Mexican patients with non-small cell lung carcinoma and its impact on survival

Martínez-Herrera,

Sánchez Domínguez,

Juárez-Vignon Whaley

et al. 2024

J Thorac Dis

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Background Lung cancer represents a significant global health concern, often diagnosed in its advanced stages. The advent of massive DNA sequencing has revolutionized the landscape of cancer treatment by enabling the identification of target mutations and the development of tailored therapeutic approaches. Unfortunately, access to DNA sequencing technology remains limited in many developing countries. In this context, we emphasize the critical importance of integrating this advanced technology into healthcare systems in developing nations to improve treatment outcomes. Methods We conducted an analysis of electronic clinical records of patients with confirmed advanced non-small cell lung cancer (NSCLC) and a verified negative status for the epidermal growth factor receptor ( EGFR ) mutation. These patients underwent next-generation sequencing (NGS) for molecular analysis. We performed descriptive statistical analyses for each variable and conducted both univariate and multivariate statistical analyses to assess their impact on progression-free survival (PFS) and overall survival (OS). Additionally, we classified genetic mutations as actionable or non-actionable based on the European Society for Medical Oncology Scale of Clinical Actionability of Molecular Targets (ESCAT) guidelines. Results Our study included a total of 127 patients, revealing the presence of twenty-one distinct mutations. The most prevalent mutations were EGFR (18.9%) and Kirsten rat sarcoma viral oncogene homolog ( KRAS ) (15.7%). Notably, anaplastic lymphoma kinase ( ALK ) [hazard ratio (HR): 0.258, P<0.001], tumor mutation burden (TMB) (HR: 2.073, P=0.042) and brain magnetic resonance imaging (MRI) (HR: 0.470, P=0.032) demonstrated statistical significance in both the univariate and multivariate analyses with respect to PFS. In terms of OS, ALK (HR: 0.285, P<0.001) and EGFR (HR: 0.482, P=0.024) exhibited statistical significance in both analyses. Applying the ESCAT classification system, we identified actionable genomic variations (ESCAT level-1), including EGFR , ALK , breast cancer ( BRAF ) gene, c-ros oncogene 1 ( ROS1 ), and rearranged during transfection ( RET ) gene, in 32.3% of the patients. Conclusions Our findings from massive DNA sequencing underscore that 32.3% of patients who test negative for the EGFR mutation possess other targetable mutations, enabling them to receive personalized, targeted therapies at an earlier stage of their disease. Implementing massive DNA sequencing in developing countries is crucial to enhance survival rates among NSCLC patients and guide more effective treatment strategies.

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Diagnostic value of liquid biopsy in the era of precision medicine: 10 years of clinical evidence in cancer

Cited by 29 publications

References 380 publications

Beyond blood: Advancing the frontiers of liquid biopsy in oncology and personalized medicine

Beyond blood: Advancing the frontiers of liquid biopsy in oncology and personalized medicine

Optical spectroscopic analysis of cerebrospinal fluid of human brain tumor using visible resonance Raman spectroscopy

Mutation profile in liquid biopsy tested by next generation sequencing in Mexican patients with non-small cell lung carcinoma and its impact on survival

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