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Circulating tumor DNA and liquid biopsy: opportunities, challenges, and recent advances in detection technologies.
Literature Information
| DOI | 10.1039/C8LC00100F |
|---|---|
| PMID | 29569666 |
| Journal | Lab on a chip |
| Impact Factor | 5.4 |
| JCR Quartile | Q1 |
| Publication Year | 2018 |
| Times Cited | 118 |
| Keywords | circulating tumor DNA, liquid biopsy, detection technologies, cancer, noninvasive assessment |
| Literature Type | Journal Article, Research Support, Non-U.S. Gov't, Review |
| ISSN | 1473-0189 |
| Pages | 1174-1196 |
| Issue | 18(8) |
| Authors | Lena Gorgannezhad, Muhammad Umer, Md Nazmul Islam, Nam-Trung Nguyen, Muhammad J A Shiddiky |
TL;DR
This paper comprehensively reviews the potential of circulating tumor DNA (ctDNA) as a noninvasive liquid biopsy for cancer diagnosis, prognosis, and monitoring treatment responses, highlighting recent advancements in analytical methods such as chip-based electrochemical sensors. The findings emphasize the need to address existing biological and technical challenges to facilitate the integration of ctDNA analysis into routine clinical practice, ultimately improving cancer management.
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circulating tumor DNA · liquid biopsy · detection technologies · cancer · noninvasive assessment
Abstract
Cell-free DNA (cfDNA) refers to short fragments of acellular nucleic acids detectable in almost all body fluids, including blood, and is involved in various physiological and pathological phenomena such as immunity, coagulation, aging, and cancer. In cancer patients, a fraction of hematogenous cfDNA originates from tumors, termed circulating tumor DNA (ctDNA), and may carry the same mutations and genetic alterations as those of a primary tumor. Thus, ctDNA potentially provides an opportunity for noninvasive assessment of cancer. Recent advances in ctDNA analysis methods will potentially lead to the development of a liquid biopsy tool for the diagnosis, prognosis, therapy response monitoring, and tracking the rise of new mutant sub-clones in cancer patients. Over the past few decades, cancer-specific mutations in ctDNA have been detected using a variety of untargeted methods such as digital karyotyping, personalized analysis of rearranged ends (PARE), whole-genome sequencing of ctDNA, and targeted approaches such as conventional and digital PCR-based methods and deep sequencing-based technologies. More recently, several chip-based electrochemical sensors have been developed for the analysis of ctDNA in patient samples. This paper aims to comprehensively review the diagnostic, prognostic, and predictive potential of ctDNA as a minimally invasive liquid biopsy for cancer patients. We also present an overview of current advances in the analytical sensitivity and accuracy of ctDNA analysis methods as well as biological and technical challenges, which need to be resolved for the integration of ctDNA analysis into routine clinical practice.
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Primary Questions Addressed
- What are the specific challenges in integrating ctDNA analysis into routine clinical practice, and how might these be addressed?
- How do recent advances in chip-based electrochemical sensors compare to traditional methods in terms of sensitivity and accuracy for ctDNA detection?
- What role does ctDNA play in monitoring therapy response and detecting new mutant sub-clones in cancer patients?
- Can ctDNA analysis be utilized for early cancer detection, and what are the implications for patient outcomes?
- How do the various methods of ctDNA analysis differ in terms of their application in different cancer types or stages?
Key Findings
Key Insights
Research Background and Objectives
Cell-free DNA (cfDNA) encompasses fragments of nucleic acids found in various bodily fluids, primarily blood, and plays a significant role in physiological and pathological processes, including cancer. The specific subset of cfDNA derived from tumors is known as circulating tumor DNA (ctDNA), which contains genetic mutations and alterations analogous to those present in primary tumors. The primary objective of this research is to explore the potential of ctDNA as a noninvasive biomarker for cancer diagnosis, prognosis, monitoring therapeutic responses, and tracking emerging mutations in cancer patients. The paper aims to provide a comprehensive review of the advancements in ctDNA detection technologies and their clinical applicability.Major Methods and Findings
The review discusses a range of methods for detecting cancer-specific mutations in ctDNA, which include both untargeted and targeted approaches. Untargeted methods encompass digital karyotyping, personalized analysis of rearranged ends (PARE), and whole-genome sequencing of cfDNA. Targeted methods feature conventional and digital PCR, as well as deep sequencing technologies. Recently, the development of chip-based electrochemical sensors has emerged as a novel technology for ctDNA analysis in patient samples. The findings indicate significant advancements in analytical sensitivity and accuracy of these detection methods, which are crucial for the reliable assessment of ctDNA levels and mutation profiles in clinical settings.Core Conclusions
The study concludes that ctDNA holds substantial promise as a minimally invasive liquid biopsy tool, allowing for early cancer detection and ongoing patient monitoring. The advancements in detection technologies enhance the feasibility of integrating ctDNA analysis into routine clinical practice. However, the research also acknowledges existing biological and technical challenges that need to be addressed to ensure the robustness and reliability of ctDNA testing in diverse cancer types.Research Significance and Impact
The significance of this research lies in its potential to revolutionize cancer diagnosis and management by providing a less invasive alternative to traditional tissue biopsies. The ability to monitor tumor dynamics through ctDNA can lead to more personalized treatment strategies and timely interventions, ultimately improving patient outcomes. As ctDNA analysis continues to evolve, its integration into clinical workflows could enhance the overall understanding of cancer biology and contribute to the development of targeted therapies, thereby transforming cancer care practices on a global scale.
Literatures Citing This Work
- MMP-9 as a Candidate Marker of Response to BRAF Inhibitors in Melanoma Patients With BRAFV600E Mutation Detected in Circulating-Free DNA. - Rossella Salemi;Luca Falzone;Gabriele Madonna;Jerry Polesel;Diana Cinà;Domenico Mallardo;Paolo A Ascierto;Massimo Libra;Saverio Candido - Frontiers in pharmacology (2018)
- Blood-Based Cancer Biomarkers in Liquid Biopsy: A Promising Non-Invasive Alternative to Tissue Biopsy. - José Marrugo-Ramírez;Mònica Mir;Josep Samitier - International journal of molecular sciences (2018)
- Highly sensitive detection of DNA hypermethylation in melanoma cancer cells. - Jared Nesvet;Giovanni Rizzi;Shan X Wang - Biosensors & bioelectronics (2019)
- The current role and future directions of circulating tumor cells and circulating tumor DNA in urothelial carcinoma of the bladder. - Michael Rink;Heidi Schwarzenbach;Sabine Riethdorf;Armin Soave - World journal of urology (2019)
- Liquid biopsy for pediatric central nervous system tumors. - Erin R Bonner;Miriam Bornhorst;Roger J Packer;Javad Nazarian - NPJ precision oncology (2018)
- Multilayer microfluidic array for highly efficient sample loading and digital melt analysis of DNA methylation. - Christine M O'Keefe;Daniel Giammanco;Sixuan Li;Thomas R Pisanic;Tza-Huei Jeff Wang - Lab on a chip (2019)
- Recent Progress on Liquid Biopsy Analysis using Surface-Enhanced Raman Spectroscopy. - Yuying Zhang;Xue Mi;Xiaoyue Tan;Rong Xiang - Theranostics (2019)
- Neoantigen identification strategies enable personalized immunotherapy in refractory solid tumors. - Fangjun Chen;Zhengyun Zou;Juan Du;Shu Su;Jie Shao;Fanyan Meng;Ju Yang;Qiuping Xu;Naiqing Ding;Yang Yang;Qin Liu;Qin Wang;Zhichen Sun;Shujuan Zhou;Shiyao Du;Jia Wei;Baorui Liu - The Journal of clinical investigation (2019)
- Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer. - Xiaoyu Liu;Lingxiao Liu;Yuan Ji;Changyu Li;Tao Wei;Xuerong Yang;Yuefang Zhang;Xuyu Cai;Yangbin Gao;Weihong Xu;Shengxiang Rao;Dayong Jin;Wenhui Lou;Zilong Qiu;Xiaolin Wang - EBioMedicine (2019)
- The diagnostic value of circulating tumor cells and ctDNA for gene mutations in lung cancer. - Mengyuan Lyu;Jian Zhou;Kang Ning;Binwu Ying - OncoTargets and therapy (2019)
... (108 more literatures)
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