The Future of Precision Oncology

International Journal of Molecular Sciences, Journal Year: 2023, Volume and Issue: 24(16), P. 12613 - 12613

Published: Aug. 9, 2023

Our understanding of the molecular mechanisms underlying cancer development and evolution have evolved rapidly over recent years, variation from one patient to another is now widely recognized. Consequently, one-size-fits-all approaches treatment been superseded by precision medicines that target specific disease characteristics, promising maximum clinical efficacy, minimal safety concerns, reduced economic burden. While oncology has very successful in some tumors with a large number patients do not yet access for their disease. The success next-generation depends on discovery new actionable rapid, accurate, comprehensive diagnosis complex phenotypes within each patient, novel trial designs improved response rates, worldwide targeted anticancer therapies all patients. This review outlines current technological trends, highlights multidisciplinary efforts are underway ensure many more will be able benefit near future.

Language: Английский

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Liquid biopsy in lung cancer

Clinica Chimica Acta, Journal Year: 2024, Volume and Issue: 554, P. 117757 - 117757

Published: Jan. 4, 2024

Language: Английский

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Circulating tumour mutation detection in triple-negative breast cancer as an adjunct to tissue response assessment

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

Published: Jan. 5, 2024

Abstract Circulating tumour DNA (ctDNA) detection via liquid biopsy is an emerging alternative to tissue biopsy, but its potential in treatment response monitoring and prognosis triple negative breast cancer (TNBC) not yet well understood. Here we determined the prevalence of actionable mutations detectable ctDNA using a clinically validated gene panel assay patients with TNBC, without recurrence at time study entry. Sequencing plasma validation variants from 130 TNBC collected within 7 months primary completion revealed that 7.7% had residual disease hotspot panel. Among neoadjuvant treated patients, observed trend where incomplete pathologic positive were much higher risk reduced progression free survival. We propose high subset early therapy protocols may be identifiable by combining sensitive detection.

Language: Английский

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A scoping review of factors influencing the implementation of liquid biopsy for cancer care

Journal of Experimental & Clinical Cancer Research, Journal Year: 2025, Volume and Issue: 44(1)

Published: Feb. 12, 2025

Abstract Background Liquid biopsy (LB) offers a promising, minimally invasive alternative to traditional tissue biopsies in cancer care, enabling real-time monitoring and personalized treatment. Despite its potential, the routine implementation of LB clinical practice faces significant challenges. This scoping review examines barriers facilitators influencing liquid into standard care. Methods Four academic databases (PubMed, Scopus, Embase, Web Science) were systematically searched without language restrictions. We included peer-reviewed articles that published between January 2019 March 2024 focused on care or described implementation. Data relevant objective, including key article characteristics; implementation; recommendations for advancement optimisation; extracted analysed using thematic visual network analyses. Results The majority narrative (84%), with most from China (24.2%) United States (20%). Thematic analysis identified four main categories their associated care: (1) Laboratory personnel requirements; (2) Disease specificity; (3) Biomarker-based biopsy; (4) Policy regulation. concentrated pre-analytical phase, highlighting lack standardization technologies outcomes. Conclusions Through implementation, we present an integrated tool designed encourage testing methods guidelines field.

Language: Английский

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Circulating Tumor HPV DNA for Surveillance of HPV-Positive Oropharyngeal Squamous Cell Carcinoma

JAMA Oncology, Journal Year: 2023, Volume and Issue: 9(12), P. 1716 - 1716

Published: Oct. 12, 2023

Human papillomavirus (HPV)-positive oropharyngeal squamous cell carcinoma has an overall favorable prognosis, yet a subset of patients will experience devastating disease recurrence. Current surveillance standards for detection recurrent are imperfect. There is growing interest in improving through the use plasma-based assays able to detect circulating tumor HPV DNA.Although most DNA remain research domain, tissue-modified viral assay became commercially available United States early 2020 and been increasingly used clinical setting. With rapidly increasing incidence HPV-positive concomitant expansion biomarker capabilities this disease, it critical reexamine current posttreatment practices determine whether emerging technologies may be improve outcomes survivor population. However, caution advised; not known biomarker-based truly beneficial, as true with any intervention, capacity cause harm.Using Margaret Pepe's classic 5 phases development cancer framework, article reviews state knowledge, highlights existing knowledge gaps, suggests that should prioritized understand association between patient outcomes. Specific attention paid assay, given its use. This review serve road map future guide clinicians considering adoption practice. Enrollment into trials incorporating prioritized.

Language: Английский

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Toward Informed Selection and Interpretation of Clinical Genomic Tests in Prostate Cancer

JCO Precision Oncology, Journal Year: 2024, Volume and Issue: 8

Published: March 1, 2024

Clinical genomic testing of patient germline, tumor tissue, or plasma cell-free DNA can enable a personalized approach to cancer management and treatment. In prostate (PCa), broad genotyping tests are now widely used identify germline and/or somatic alterations in BRCA2 other damage repair genes. Alterations these genes confer sensitivity poly (ADP-ribose) polymerase inhibitors, linked with poor prognosis, have potential hereditary implications for family members. However, there is huge variability reporting standards, meaning that successful implementation clinical practice, end users must carefully select the most appropriate test given critically interpret results. this white paper, we outline key pre- post-test considerations choosing evaluating reported variants, specifically patients advanced PCa. Test choice be based on context disease state, availability suitability regions covered by test. We describe strategies recognize false positives negatives results, including frameworks assess low fraction, subclonal alterations, clonal hematopoiesis, pathogenic versus nonpathogenic variants. assume improved understanding among health care professionals researchers nuances associated will ultimately lead optimal decision making.

Language: Английский

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Error-Corrected Deep Targeted Sequencing of Circulating Cell-Free DNA from Colorectal Cancer Patients for Sensitive Detection of Circulating Tumor DNA

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(8), P. 4252 - 4252

Published: April 11, 2024

Circulating tumor DNA (ctDNA) is a promising biomarker, reflecting the presence of cells. Sequencing-based detection ctDNA at low fractions challenging due to crude error rate sequencing. To mitigate this challenge, we developed ultra-deep mutation-integrated sequencing (UMIseq), fixed-panel deep targeted approach, which universally applicable all colorectal cancer (CRC) patients. UMIseq features UMI-mediated correction, exclusion mutations related clonal hematopoiesis, panel normal samples for modeling, and signal integration from single-nucleotide variations, insertions, deletions, phased mutations. was trained independently validated on pre-operative (pre-OP) plasma CRC patients (n = 364) healthy individuals 61). displayed an area under curve surpassing 0.95 allele frequencies (AFs) down 0.05%. In training cohort, pre-OP reached 80% 95% specificity, while it 70% in validation cohort. enabled AFs 0.004%. assess potential residual disease, 26 post-operative stage III were analyzed. From found that associated with recurrence. conclusion, demonstrated robust performance high sensitivity enabling frequencies.

Language: Английский

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Epigenetic modifications of cfDNA in liquid biopsy for the cancer care continuum

Biomedical Journal, Journal Year: 2024, Volume and Issue: unknown, P. 100718 - 100718

Published: March 1, 2024

This review provides a comprehensive overview of the latest advancements in clinical utility liquid biopsy, with particular focus on epigenetic approaches aimed at overcoming challenges cancer diagnosis and treatment. It begins by elucidating key terms, including methylomics, fragmentomics, nucleosomics. The progresses to discuss methods for analyzing circulating cell-free DNA (cfDNA) highlights recent studies showcasing relevance modifications areas such as diagnosis, drug treatment response, minimal residual disease (MRD) detection, prognosis prediction. While acknowledging hurdles like complexity interpreting data absence standardization, charts path forward. advocates integration multi-omic through machine learning algorithms refine predictive models stresses importance collaboration among clinicians, researchers, scientists. Such cooperative efforts are essential fully leverage potential features practice.

Language: Английский

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Assessing Circulating Tumour DNA (ctDNA) as a Biomarker for Anal Cancer Management: A Systematic Review

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(7), P. 4005 - 4005

Published: April 3, 2024

This systematic review investigates the potential of circulating tumour DNA (ctDNA) as a predictive biomarker in management and prognosis squamous cell carcinoma anal canal (SCCA). PubMed, EMBASE, Cochrane Central Registry Controlled Trials were searched until 7 January 2024. Selection criteria included research articles exploring ctDNA context cancer treatment response, recurrence risk assessment, consideration salvage surgery. A total eight studies therefore final review, examining 628 patients. These focused on three main themes: SCCA diagnosis staging, patient outcomes. Significant heterogeneity was observed terms cohort, study methodology, biomarkers. Four provided information sensitivity biomarkers SCCA, with range 82–100%. Seven noted correlation between pre-treatment levels disease burden, suggesting that could play role for staging SCCA. Across all seven paired pre- post-treatment samples, trend seen towards decreasing post-treatment, specific identification ‘fast elimination’ group who achieve undetectable prior to end may be less likely experience failure. Residual detection associated poorer prognosis. identifies broad useful decisive tool Further analysis include larger cohorts is required order clearly evaluate their clinical decision-making processes.

Language: Английский

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Pre-analytical conditions and implementation of quality control steps in liquid biopsy analysis

Critical Reviews in Clinical Laboratory Sciences, Journal Year: 2023, Volume and Issue: 60(8), P. 573 - 594

Published: July 30, 2023

AbstractOver the last decade, great advancements have been made in field of liquid biopsy through extensive research and development new technologies that facilitate use for cancer patients. This is shown by numerous tests gained clearance US Food Drug Administration (FDA) recent years. Liquid has significantly altered treatment providing clinicians with powerful immediate information about therapeutic decisions. However, clinical integration still challenging there are many critical factors to consider prior its implementation into routine practice. Lack standardization due technical challenges definition utility specific assays further complicates establishment Standard Operating Procedures (SOPs) biopsy. Harmonization laboratories established guidelines major importance overcome inter-lab variabilities observed. Quality control assessment diagnostic offer testing will ensure can base their decisions on robust results. The regular participation external quality schemes aims promptly pinpoint deficiencies efficiently educate improve services. Accreditation based ISO15189 standard Europe or CLIA/CAP accreditation procedures best way achieve adaptation setting assuring reliable results Nowadays, various organizations from academia, industry, regulatory agencies collaborate set a framework include all pre-analytical phase analytical process final interpretation In this review, we underline several analysis circulating tumor DNA (ctDNA) cells (CTCs) concerning protocols, assessment, harmonization laboratories, compliance need be thoroughly considered before enters clinic.Keywords: biopsypre-analyticalquality controlEQAaccreditationcirculating cellscirculating DNACTCsctDNA Disclosure statementNo potential conflict interest was reported authors.Additional informationFundingThis study carried out context Operational Program Competitiveness, Entrepreneurship, Innovation, under call RESEARCH – CREATE INNOVATE (project code: T1RCI-02935) financially supported European Union Greek national funds.

Language: Английский

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