无创产前检测

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Cell子刊,卢煜明团队提出真正无创液体活检新方法:尿液游离DNA
生物世界· 2025-05-19 03:52
Core Viewpoint - The research led by Professor Lu Yuming highlights the impact of chromatin accessibility on the clearance rate of plasma DNA through the kidneys, suggesting new diagnostic methods for diseases with renal manifestations [3][9]. Group 1: Liquid Biopsy and Non-Invasive Testing - Professor Lu Yuming is recognized as a pioneer in the field of liquid biopsy, particularly in non-invasive prenatal testing, having discovered fetal cell-free DNA in maternal blood as early as 1997 [2]. - The non-invasive prenatal diagnostic technology based on DNA analysis has been widely adopted in over 100 countries, benefiting approximately 10 million pregnant women annually [2]. - The recent development of the FRAGMA technology enables the detection of multiple cancers through blood tests, advancing liquid biopsy into the whole-genome era [2]. Group 2: Research Findings on Urinary Cell-Free DNA (ucfDNA) - The study published in the journal Med reveals that chromatin accessibility states affect the renal clearance of plasma DNA, potentially through size limitations of the glomerular barrier [3][9]. - The research identifies two types of ucfDNA: renal ucfDNA (filtered through the kidneys) and urinary tract ucfDNA, highlighting their distinct characteristics [5]. - Analysis of 136 ucfDNA samples from various groups (healthy controls, pregnant women, chronic kidney disease patients, and bladder cancer patients) provided insights into fragmentomic features, including fragment size and 5' end motifs [5][6]. Group 3: Implications for Disease Detection - Renal ucfDNA is primarily derived from open chromatin regions, while urinary tract ucfDNA exhibits unique fragmentomic characteristics [6][7]. - The study indicates that in patients with proteinuria (e.g., preeclampsia, chronic kidney disease), levels of ucfDNA from heterochromatin regions increase, suggesting a correlation with glomerular permeability [6]. - The effectiveness of bladder cancer detection is significantly enhanced by analyzing low methylation signals from heterochromatin regions, achieving an AUC of 0.93 [6]. Group 4: Broader Impact and Recognition - Professor Lu Yuming's contributions to medical science have garnered international accolades, including election to the Royal Society and the National Academy of Sciences, as well as prestigious awards such as the Future Science Prize and the Lasker Award [14]. - His research is considered a strong contender for the Nobel Prize, with significant implications for cancer screening and risk prediction [14].