Clinical utility of circulating tumor DNA profiling in detecting targetable fusions in non-small cell lung cancer DOI Creative Commons
Young-Gon Kim, Boram Lee, Changhee Ha

et al.

Frontiers in Oncology, Journal Year: 2024, Volume and Issue: 14

Published: Oct. 24, 2024

Introduction Numerous studies have suggested high concordance between tissue and circulating tumor DNA (ctDNA) comprehensive genomic profiling (CGP) tests but only few of them focused on fusions. In addition, atypical breakpoints occasionally detected from DNA-based fusion detection make interpretation difficult, their clinical significance remains unclear. This study evaluated the utility ctDNA CGP for detection. Methods The results performed patients with stage IV non-small cell lung cancer during routine care were retrospectively reviewed. combined test was analyzed using CGP, immunohistochemistry, fluorescence in situ hybridization, reverse transcription polymerase chain reaction. fusions by including those at level, assessed. Results total, 264 tested CGP. Fusions 27 (10.2%), drivers RET (n=12, 4.6%), ALK (n=9, 3.4%), ROS1 (n=4, 1.5%), FGFR2 (n=2, 0.8%). overall prevalence comparable to that A total 371 ctDNA-tissue pairs available, positive negative percent agreement rates 92.9% (13/14) 100.0% (357/357), respectively. One IHC-positive CGP-negative case did not respond -targeted therapy. Response targeted therapy assessed 16 patients, a partial response achieved all four breakpoints. Conclusion Fusion showed accuracy predicting therapeutic responses cancer. may provide an important diagnostic tool

Language: Английский

Research progress of CTC, ctDNA, and EVs in cancer liquid biopsy DOI Creative Commons
Xiaoling Wang, Lijuan Wang,

Haihong Lin

et al.

Frontiers in Oncology, Journal Year: 2024, Volume and Issue: 14

Published: Jan. 25, 2024

Circulating tumor cells (CTCs), circulating DNA (ctDNA), and extracellular vehicles (EVs) have received significant attention in recent times as emerging biomarkers subjects of transformational studies. The three main branches liquid biopsy evolved from the primary detection targets—CTC, ctDNA, EVs—each with distinct benefits. CTCs are derived cancer original or metastases may display global features tumor. ctDNA has been extensively analyzed used to aid diagnosis, treatment, prognosis neoplastic diseases. EVs contain tumor-derived material such DNA, RNA, proteins, lipids, sugar structures, metabolites. provide different contents but strong complementarity a certain extent. Even though they already employed several clinical trials, utility is still being studied, promising initial findings. This review thoroughly overviews established technologies for isolation, characterization, content CTC, EVs. Also discussed were most developments study potential therapeutic monitoring, prediction. These included Finally, challenges employing based on precision medicine evaluated.

Language: Английский

Citations

25
The growing field of liquid biopsy and its Snowball effect on reshaping cancer management DOI Creative Commons
Roberto Borea, Carolina Reduzzi

The Journal of Liquid Biopsy, Journal Year: 2025, Volume and Issue: unknown, P. 100293 - 100293

Published: March 1, 2025

Liquid biopsy (LB) has emerged as a transformative tool in oncology, providing minimally invasive approach for tumor detection, molecular characterization, and real-time treatment monitoring. By analyzing circulating DNA (ctDNA), cells (CTCs), extracellular vesicles (EVs), microRNA (miRNA), LB enables comprehensive profiling without the need traditional tissue biopsies. Over past decade, research this field expanded exponentially, leading to integration of into clinical practice specific cancer types, including lung breast cancer. In 2024, Journal Biopsy (JLB) published innovative studies exploring latest advancements technologies, biomarkers, their applications minimal residual disease (MRD) monitoring, therapy response assessment. This review synthesizes recent findings on role monitoring across different with particular focus newly context within translational research. Additionally, it highlights emerging techniques such fragmentomics, artificial intelligence, multiomics, paving way more precise, personalized decisions. Despite these advancements, challenges remain standardizing methodologies, optimizing validation, integrating routine oncological workflows. mini-review evolving landscape its potential revolutionize diagnosis, therapeutic decision-making, ushering new era precision oncology.

Language: Английский

Citations

1
Minimal residual disease as a target for liquid biopsy in patients with solid tumours DOI
Klaus Pantel, Catherine Alix‐Panabières

Nature Reviews Clinical Oncology, Journal Year: 2024, Volume and Issue: 22(1), P. 65 - 77

Published: Nov. 28, 2024

Language: Английский

Citations

6
Fusion genes in cancers: Biogenesis, functions, and therapeutic implications DOI Creative Commons

Haoneng Tang,

Peng Qiu,

Linda Oyang

et al.

Genes & Diseases, Journal Year: 2025, Volume and Issue: unknown, P. 101536 - 101536

Published: Jan. 1, 2025

Language: Английский

Citations

0
Fusion Challenges in Solid Tumors: Shaping the Landscape of Cancer Care in Precision Medicine DOI
Jibran Ahmed, Carlos Torrado,

Anca Chelariu

et al.

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

Published: July 1, 2024

Targeting actionable fusions has emerged as a promising approach to cancer treatment. Next-generation sequencing (NGS)–based techniques have unveiled the landscape of in cancer. However, these approaches remain insufficient provide optimal treatment options for patients with This article provides comprehensive overview actionability and clinical development targeted agents aimed at driver fusions. It also highlights challenges associated fusion testing, including evaluation who could potentially benefit from testing devising an effective strategy. The implementation DNA NGS all tumor types, combined RNA sequencing, potential maximize detection while considering cost effectiveness. Herein, we present strategy improving outcomes

Language: Английский

Citations

4
The Search for Risk, Diagnostic and Prognostic Biomarkers of Cholangiocarcinoma and their Biological and Clinicopathological Significance DOI
Rocı́o I.R. Macı́as, Hiroaki Kanzaki, Carmen Berasain

et al.

American Journal Of Pathology, Journal Year: 2024, Volume and Issue: unknown

Published: Aug. 1, 2024

Language: Английский

Citations

4
Utilizing ctDNA to discover mechanisms of resistance to targeted therapies in patients with metastatic NSCLC: towards more informative trials DOI
Sophie M. Ernst, Mihaela Aldea, Jan H. von der Thüsen

et al.

Nature Reviews Clinical Oncology, Journal Year: 2025, Volume and Issue: unknown

Published: March 14, 2025

Language: Английский

Citations

0
Clinical characterization and therapeutic targeting of fusion genes in oncology DOI Creative Commons
Susan Morand, Lauren Elizabeth Rager, Daniel J. Craig

et al.

Future Oncology, Journal Year: 2025, Volume and Issue: unknown, P. 1 - 12

Published: March 24, 2025

Gene fusions represent important oncogenic driver mutations resulting in aberrant cellular signaling. In up to 17% of all solid tumors at least one gene fusion can be identified. Precision therapy targeting signaling has demonstrated effective clinical benefit. Advancements clinically relevant next-generation sequencing and bioinformatic techniques have enabled expansion therapeutic opportunity subpopulations patients with expression. Clinically, tyrosine inhibitors shown efficacy treating expressing cancers. Fusion genes are also clonal mutations, meaning it is a personal cancer target involving cells that patient, not just subpopulation within the mass. Thus, both signal disruption immune directions. This review discusses targeting, resistance, molecular biomarkers.

Language: Английский

Citations

0
Biomarkers and Management of Cholangiocarcinoma: Unveiling New Horizons for Precision Therapy DOI Open Access
Naoshi Nishida

Cancers, Journal Year: 2025, Volume and Issue: 17(7), P. 1243 - 1243

Published: April 6, 2025

Cholangiocarcinoma (CCA) is an aggressive malignancy with limited methods for early detection, necessitating the development of reliable biomarkers diagnosis and management. However, conventional tumor markers, such as CA19-9 CEA, exhibit insufficient diagnostic accuracy. Recent advancements in molecular genetics have identified several actionable mutations CCA, enabling molecularly targeted therapies that improve survival patients harboring these genetic alterations. Cancer panels, which facilitate multiplex profiling, are critical identifying mutations. Studies indicate detected CCA cases, receiving mutation-guided achieving markedly better outcomes. Liquid biopsies, including cell-free DNA circulating DNA, offer real-time, non-invasive approaches to monitoring dynamics, heterogeneity, treatment responses. Furthermore, numerous studies non-coding RNAs serum bile promising management CCA. On other hand, immunotherapy, particularly immune checkpoint inhibitors, has shown efficacy subsets patients. success often affected by status microenvironment (TME), underscoring need comprehensive TME analysis predict responses inhibitors. Despite advances, no single biomarker currently demonstrates sufficient sensitivity or specificity clinical application. The integration multi-omics cutting-edge technologies holds promise enhancing accuracy, optimizing stratification, advancing precision medicine These developments highlight transformative potential prognostic assessment, personalized therapeutic interventions

Language: Английский

Citations

0
Putting comprehensive genomic profiling of ctDNA to work: 10 proposed use cases DOI Creative Commons
Aakash Desai, Lincoln W. Pasquina,

Candice Nulsen

et al.

The Journal of Liquid Biopsy, Journal Year: 2024, Volume and Issue: 4, P. 100140 - 100140

Published: Jan. 17, 2024

Liquid biopsy profiling of circulating tumor DNA (ctDNA) has become established as a compelling, pragmatic diagnostic in the care cancer patients and is now endorsed by multiple guidelines. Moreover, ctDNA technologies have advanced significantly offer increasingly comprehensive reliable insights into cancer. In this review, we focus on applications propose that critical untapped opportunity considering how utilize these accessible, scalable across diverse potential applications. With specific clinical applications, rather than research uses, describe 10 use cases for four categories: (1) (2) emerging therapy selection, (3) incidental detection secondary genomic findings, (4) quantification plasma content.

Language: Английский

Citations

3