Multi-cancer early detection tests for general population screening: a systematic literature review DOI Creative Commons
Ros Wade, Sarah J Nevitt, Yiwen Liu

et al.

Health Technology Assessment, Journal Year: 2025, Volume and Issue: unknown, P. 1 - 105

Published: Jan. 1, 2025

Background General population cancer screening in the United Kingdom is limited to selected cancers. Blood-based multi-cancer early detection tests aim detect potential signals from multiple cancers blood. The use of a test for requires high specificity and reasonable sensitivity early-stage disease so that benefits earlier diagnosis treatment can be realised. Objective To undertake systematic literature review clinical effectiveness evidence on blood-based screening. Methods Comprehensive searches electronic databases (including MEDLINE EMBASE) trial registers were undertaken September 2023 identify published unpublished studies tests. Test manufacturer websites reference lists included pertinent reviews checked additional studies. target was individuals aged 50–79 years without suspicion cancer. Outcomes interest accuracy, number proportion detected (by site stage), time diagnostic resolution, mortality, harms, health-related quality life, acceptability satisfaction. risk bias assessed using assessment accuracy studies-2 checklist. Results summarised narrative synthesis. Stakeholders contributed protocol development, report drafting interpretation findings. Over 8000 records identified. Thirty-six met inclusion criteria: 1 ongoing randomised controlled trial, 13 completed cohort studies, 17 case-control 5 or Individual claimed 3 over 50 different types Diagnostic currently available varied substantially: Galleri ® (GRAIL, Menlo Park, CA, USA) 20.8–66.3%, 98.4–99.5% (three studies); CancerSEEK (Exact Sciences, Madison, WI, 27.1–62.3%, 98.9– 99.1% (two SPOT-MAS™ (Gene Solutions, Ho Chi Minh City, Vietnam) 72.4–100%, 97.0–99.9% Trucheck™ (Datar Cancer Genetics, Bayreuth, Germany) 90.0%, 96.4% (one study); Differentiation Analysis (AnPac Bio, Shanghai, China) 40.0%, 97.6% study). AICS (AminoIndex Screening; Ajinomoto, Tokyo, Japan) screens individual separately, no overall performance statistics are available. Where reported, lower detecting earlier-stage (stages I–II) compared with later-stage III–IV). Studies seven other at an unclear stage development also summarised. Limitations Study selection complex; it often difficult determine limited; there trials most had bias, primarily owing follow-up participants negative results. Only one study recruited asymptomatic States America; however, results may not representative Kingdom's general population. No meaningful reported relating patient-relevant outcomes, such as Conclusions All early-detection (> 96%). Sensitivity highly variable influenced by design, population, standard used length follow-up. Future work Further research should outcomes consider patient service impacts. registration This registered PROSPERO CRD42023467901. Funding award funded National Institute Health Care Research (NIHR) Technology Assessment programme (NIHR ref: NIHR161758) full ; Vol. 29, No. 2. See NIHR Awards website further information.

Language: Английский

Technological advancements in cancer diagnostics: Improvements and limitations DOI Creative Commons

Akhil Pulumati,

Anika Pulumati, Bilikere S. Dwarakanath

et al.

Cancer Reports, Journal Year: 2023, Volume and Issue: 6(2)

Published: Jan. 6, 2023

Abstract Background Cancer is characterized by the rampant proliferation, growth, and infiltration of malignantly transformed cancer cells past their normal boundaries into adjacent tissues. It leading cause death worldwide, responsible for approximately 19.3 million new diagnoses 10 deaths globally in 2020. In United States alone, estimated number 1.9 609 360, respectively. Implementation currently existing diagnostic techniques such as positron emission tomography (PET), X‐ray computed (CT), magnetic resonance spectroscopy (MRS), molecular techniques, have enabled early detection rates are instrumental not only therapeutic management patients, but also itself. The effectiveness these screening programs heavily dependent on rate accurate precursor lesion identification; an increased identification allows earlier onset treatment, thus decreasing incidence invasive long‐term, improving overall prognosis. Although advantageous due to lack invasiveness easier accessibility within clinical setting, several limitations optimal target definition, high signal background ratio associated artifacts hinder diagnosis specific types deep‐seated tumors, besides cost. this review we discuss various imaging, molecular, low‐cost tools related technological advancements, provide a better understanding diagnostics, unraveling opportunities effective cancer, particularly low‐ middle‐income countries (LMICs). Recent Findings Herein advancements that being utilized construct assortment incorporate hardware, image reconstruction software, imaging devices, biomarkers, even artificial intelligence algorithms, thereby providing reliable analysis tumor. Also, brief account alternative low cost‐effective therapy devices (CryoPop®, LumaGEM®, MarginProbe®) picture archiving communication systems (PACS), emphasizing need multi‐disciplinary collaboration among radiologists, pathologists, other involved specialties diagnostics. Conclusion Revolutionary biology indispensable prognosis cancer.

Language: Английский

Citations

159

Practical recommendations for using ctDNA in clinical decision making DOI
Stacey A. Cohen, Minetta C. Liu, Alexey Aleshin

et al.

Nature, Journal Year: 2023, Volume and Issue: 619(7969), P. 259 - 268

Published: July 12, 2023

Language: Английский

Citations

82

Cell type signatures in cell-free DNA fragmentation profiles reveal disease biology DOI Creative Commons
Kate E. Stanley, Tatjana Jatsenko, Stefania Tuveri

et al.

Nature Communications, Journal Year: 2024, Volume and Issue: 15(1)

Published: March 12, 2024

Abstract Circulating cell-free DNA (cfDNA) fragments have characteristics that are specific to the cell types release them. Current methods for cfDNA deconvolution typically use disease tailored marker selection in a limited number of bulk tissues or lines. Here, we utilize single transcriptome data as comprehensive cellular reference set disease-agnostic cell-of-origin analysis. We correlate cfDNA-inferred nucleosome spacing with gene expression rank relative contribution over 490 plasma cfDNA. In 744 healthy individuals and patients, uncover type signatures support emerging paradigms oncology prenatal care. train predictive models can differentiate patients colorectal cancer (84.7%), early-stage breast (90.1%), multiple myeloma (AUC 95.0%), preeclampsia (88.3%) from matched controls. Importantly, our approach performs well ultra-low coverage datasets be readily transferred diverse clinical settings expansion liquid biopsy.

Language: Английский

Citations

26

Beyond blood: Advancing the frontiers of liquid biopsy in oncology and personalized medicine DOI Creative Commons
Ying Bao,

Dejing Zhang,

Huihui� Guo

et al.

Cancer Science, Journal Year: 2024, Volume and Issue: 115(4), P. 1060 - 1072

Published: Feb. 3, 2024

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

Language: Английский

Citations

20

The Circulating Biomarkers League: Combining miRNAs with Cell-Free DNAs and Proteins DOI Open Access

Kyriacos Felekkis,

Christos Papaneophytou

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(6), P. 3403 - 3403

Published: March 17, 2024

The potential of liquid biopsy for the prognosis and diagnosis diseases is unquestionable. Within evolving landscape disease diagnostics personalized medicine, circulating microRNAs (c-miRNAs) stand out among biomarkers found in blood circulation other biological fluids due to their stability, specificity, non-invasive detection biofluids. However, complexity human limitations inherent single-marker highlight need a more integrative approach. It has been recently suggested that multi-analyte approach offers advantages over single-analyte diseases. In this review, we explore combining three well-studied classes biofluids—miRNAs, DNAs, proteins—to enhance accuracy efficacy monitoring. Initially, provide an overview each biomarker class discuss main disadvantages highlighting superiority c-miRNAs biomarkers. Additionally, challenges future directions integrating these into clinical practice, emphasizing standardized protocols further validation studies. This integrated revolutionize precision medicine by offering insights mechanisms, facilitating early detection, guiding therapeutic strategies. collaborative power with represents promising frontier comprehensive understanding management complex Nevertheless, several must be addressed before can translated practice.

Language: Английский

Citations

19

Use of ctDNA in early breast cancer: analytical validity and clinical potential DOI Creative Commons
François Panet, Andri Papakonstantinou, María Borrell

et al.

npj Breast Cancer, Journal Year: 2024, Volume and Issue: 10(1)

Published: June 19, 2024

Abstract Circulating free tumor DNA (ctDNA) analysis is gaining popularity in precision oncology, particularly metastatic breast cancer, as it provides non-invasive, real-time information to complement tissue biopsies, allowing for tailored treatment strategies and improved patient selection clinical trials. Its use early cancer has been limited so far, due the relatively low sensitivity of available techniques a setting characterized by lower levels ctDNA shedding. However, advances sequencing bioinformatics, well methylome profiles, have led an increasing interest application from screening curative evaluation minimal residual disease (MRD) detection. With multiple prospective trials this setting, may become useful practice. This article reviews data regarding analytical validity currently tests detection potential cancer.

Language: Английский

Citations

19

Aggregation-Induced Emission Luminogen: Role in Biopsy for Precision Medicine DOI Creative Commons
Yanhong Duo, Lei Han, Yaoqiang Yang

et al.

Chemical Reviews, Journal Year: 2024, Volume and Issue: 124(20), P. 11242 - 11347

Published: Oct. 9, 2024

Biopsy, including tissue and liquid biopsy, offers comprehensive real-time physiological pathological information for disease detection, diagnosis, monitoring. Fluorescent probes are frequently selected to obtain adequate on processes in a rapid minimally invasive manner based their advantages biopsy. However, conventional fluorescent have been found show aggregation-caused quenching (ACQ) properties, impeding greater progresses this area. Since the discovery of aggregation-induced emission luminogen (AIEgen) promoted advancements molecular bionanomaterials owing unique high quantum yield (QY) signal-to-noise ratio (SNR),

Language: Английский

Citations

18

Phenotypic Heterogeneity, Bidirectionality, Universal Cues, Plasticity, Mechanics, and the Tumor Microenvironment Drive Cancer Metastasis DOI Creative Commons
Claudia Tanja Mierke

Biomolecules, Journal Year: 2024, Volume and Issue: 14(2), P. 184 - 184

Published: Feb. 3, 2024

Tumor diseases become a huge problem when they embark on path that advances to malignancy, such as the process of metastasis. Cancer metastasis has been thoroughly investigated from biological perspective in past, whereas it still less explored physical perspective. Until now, intraluminal pathway cancer received most attention, while interaction cells with macrophages little attention. Apart biochemical characteristics, tumor treatments also rely microenvironment, which is recognized be immunosuppressive and, recently found, mechanically stimulates and thus alters their functions. The review article highlights other vascular metastatic route discusses impact this intercellular interplay mechanical characteristics subsequently functionality cells. For instance, can guide intravascular metastasis, whereby help circumvent adverse conditions within blood or lymphatic vessels. Macrophages induce microchannel tunneling possibly avoid forces during extra- intravasation reduce lumen due flow. key players traditional route. Moreover, effects flows are presented, influences, characterized. Finally, increased knowledge opens up new perspectives for treatment.

Language: Английский

Citations

11

Integrating Artificial Intelligence for Advancing Multiple-Cancer Early Detection via Serum Biomarkers: A Narrative Review DOI Open Access
Hsin‐Yao Wang, Wan-Ying Lin, Chenfei Zhou

et al.

Cancers, Journal Year: 2024, Volume and Issue: 16(5), P. 862 - 862

Published: Feb. 21, 2024

The concept and policies of multicancer early detection (MCED) have gained significant attention from governments worldwide in recent years. In the era burgeoning artificial intelligence (AI) technology, integration MCED with AI has become a prevailing trend, giving rise to plethora products. However, due heterogeneity both targets technologies, overall diversity products remains considerable. types encompass protein biomarkers, cell-free DNA, or combinations these biomarkers. development models, different model training approaches are employed, including datasets case-control studies real-world cancer screening datasets. Various validation techniques, such as cross-validation, location-wise validation, time-wise used. All factors show impacts on predictive efficacy AIs. After completion development, deploying AIs clinical practice presents numerous challenges, presenting reports, identifying potential locations tumors, addressing cancer-related information, follow-up treatment. This study reviews several mature currently available market, detecting their composing serum biomarker detection, training/validation, application. review illuminates challenges encountered by existing across stages, offering insights into continued obstacles within field AI.

Language: Английский

Citations

11

Heterogeneity and molecular landscape of melanoma: implications for targeted therapy DOI Creative Commons
Yasaman Zohrab Beigi, Hossein Lanjanian,

Reyhane Fayazi

et al.

Molecular Biomedicine, Journal Year: 2024, Volume and Issue: 5(1)

Published: May 10, 2024

Abstract Uveal cancer (UM) offers a complex molecular landscape characterized by substantial heterogeneity, both on the genetic and epigenetic levels. This heterogeneity plays critical position in shaping behavior response to therapy for this uncommon ocular malignancy. Targeted treatments with gene-specific therapeutic molecules may prove useful overcoming radiation resistance, however, diverse makeups of UM call patient-specific approach procedures. We need understand intricate develop targeted customized each patient's specific mutations. One promising approaches is using liquid biopsies, such as circulating tumor cells (CTCs) DNA (ctDNA), detecting monitoring disease at early stages. These non-invasive methods can help us identify most effective treatment strategies patient. Single-cellular brand-new analysis platform that gives treasured insights into diagnosis, prognosis, remedy. The incorporation data known clinical genomics information will give better understanding complicated mechanisms diseases exploit. In review, we focused panorama UM, achieve goal, authors conducted an exhaustive literature evaluation spanning 1998 2023, keywords like "uveal melanoma, “heterogeneity”. “Targeted therapies”," "CTCs," "single-cellular analysis".

Language: Английский

Citations

10