Liquid biopsies, allowing minimally invasive detection through body fluids including blood, saliva, and urine, have shown to be an effective strategy for cancer diagnosis and prognosis prediction.[1]
Throughout history, urine has been used in some form or another as a tool to diagnose and understand the inner workings of the human body. With advances in medical and scientific understanding the study of urine has become an important tool to detect malignancies. And while urinary detection of urothelial carcinoma, prostate cancer, renal cell carcinoma have become established for clinical use, other tests being studied, including urine-based liquid biopsies for the detection of pancreatic ductal adenocarcinoma (PDAC).[2]
A novel urine liquid biopsy test developed by QIAGEN and Becton, Dickinson and Company and marketed by PreAnalytiX called PAXgene® enables the reliable analysis of circulating cell-free DNA (cfDNA) from urine with most molecular testing technologies, including qPCR, digital PCR and next-generation sequencing (NGS).[3]
Urine
Although liquid biopsy generally refers to the use of blood as a minimally invasive source of body fluids for the detection of circulating tumor DNA (ctDNA), urine collection, which is completely noninvasive, may serve as an alternate body fluid source for ctDNA. [3]
Urine liquid biopsy has a significant potential to help researchers detect minimal residual disease, monitor treatment response and identify therapeutic targets by complementing the results of blood plasma analysis and providing a more complete understanding. However, unlike for blood samples, there have been no widely established technical solutions for the collection, storage, transport and processing of urine samples.
The novel test addresses the challenge of gaining access to cfDNA from urine through an integrated preservation solution. This easy-to-use set for urine collection and cfDNA stabilization is also the first to feature a verified, standardized and complete preanalytical workflow to make urine cfDNA more accessible than ever before for research analysis.
Great promise of cfDNA
Urine cfDNA holds great promise for research and future clinical applications. It allows to measure and analyze cfDNA fragments, detect genetic modifications and mutations, determine the methylation status, and generate genomic data not found in blood samples. However, analyzing these samples has been challenging, because cfDNA quickly degrades after sample collection and can release misleading genomic DNA.
“Cell-free DNA isolated from urine offers a truly non-invasive sampling method for liquid biopsy, but urine cfDNA requires careful sample handling,” explained Ellen Heitzer, MD, Professor at the Medical University of Graz in Austria.
“The PAXgene Urine Liquid Biopsy Set enables standardized urine sampling that is easy to use in clinical practice. It is compatible with various downstream analyses including hotspot, gene panel, and genome-wide analyses – all of which can provide important complementary information to blood,” Heitzer added.
Addressing unmet medical needs
“With the innovative PAXgene Urine Liquid Biopsy Set, we are excited to address a pressing market need for a urine collection, stabilization, transport and storage device that is integrated into a complete preanalytical workflow for the development of cfDNA-based tests,” said Uwe Oelmueller, MD, PreAnalytiX Management Committee Co-Chair and Head of MDx Development Sample Technologies at QIAGEN.
“Liquid biopsies have huge potential, but accurate results are highly dependent on the workflow. As a result, the stabilization of analyte profiles in samples is critical to ensure that test results are reliable and reproducible,”Oelmueller further noted.
A leap forward
The new urine liquid biopsy test represents a leap forward in sample quality, standardization and convenience for researchers working with urine samples. It offers a closed configuration set for urine collection and cfDNA stabilization, providing a range of options for sample shipment and storage conditions. It can be integrated into established workflows and is compatible with gold standard sample preparation products from QIAGEN.
The test is developed according to Europe’s latest CEN/TS standard for pre-analytical handling of urine for isolated cell free DNA, developed by the European Committee for Standardization (CEN).
Reference
[1] Yu D, Li Y, Wang M, Gu J, Xu W, Cai H, Fang X, Zhang X. Exosomes as a new frontier of cancer liquid biopsy. Mol Cancer. 2022 Feb 18;21(1):56. doi: 10.1186/s12943-022-01509-9. PMID: 35180868; PMCID: PMC8855550.
[2] Terasawa H, Kinugasa H, Ako S, Hirai M, Matsushita H, Uchida D, Tomoda T, Matsumoto K, Horiguchi S, Kato H, Nouso K, Okada H. Utility of liquid biopsy using urine in patients with pancreatic ductal adenocarcinoma. Cancer Biol Ther. 2019;20(10):1348-1353. doi: 10.1080/15384047.2019.1638685. Epub 2019 Jul 22. PMID: 31328611; PMCID: PMC6783121.
[3] Jain S, Lin SY, Song W, Su YH. Urine-Based Liquid Biopsy for Nonurological Cancers. Genet Test Mol Biomarkers. 2019 Apr;23(4):277-283. doi: 10.1089/gtmb.2018.0189. PMID: 30986103; PMCID: PMC6482900.
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DOI: 10.14229/onco.2024.09.25.002
