Expert Review of Molecular Diagnostics最新文献_第3页

Smaller, cheaper, faster: where next for liquid biopsies? 更小、更便宜、更快：液体活检的下一个方向是什么？

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-09-01 Epub Date: 2025-07-14 DOI: 10.1080/14737159.2025.2534961

Valerio Gristina, Francesco Pepe, Francesca Rita Ogliari, Tancredi Didier Bazan Russo, Andrea Gottardo, Gianluca Russo, Lorena Incorvaia, Juliette Aimee Guerry, Pasquale Pisapia, Claudia Scimone, Lucia Palumbo, Antonio Galvano, Giuseppe Badalamenti, Viviana Bazan, Giancarlo Troncone, Antonio Russo, Umberto Malapelle

{"title":"Smaller, cheaper, faster: where next for liquid biopsies?","authors":"Valerio Gristina, Francesco Pepe, Francesca Rita Ogliari, Tancredi Didier Bazan Russo, Andrea Gottardo, Gianluca Russo, Lorena Incorvaia, Juliette Aimee Guerry, Pasquale Pisapia, Claudia Scimone, Lucia Palumbo, Antonio Galvano, Giuseppe Badalamenti, Viviana Bazan, Giancarlo Troncone, Antonio Russo, Umberto Malapelle","doi":"10.1080/14737159.2025.2534961","DOIUrl":"10.1080/14737159.2025.2534961","url":null,"abstract":"Introduction: Liquid biopsy (LB) has shifted the paradigm in cancer diagnosis and management, offering a minimally invasive and dynamic approach to understanding tumor biology. Advanced next-generation sequencing (NGS) technologies have significantly improved the accuracy of LB results, enhancing both its analytical and clinical validity. However, tissue biopsy (TB) remains the gold standard for molecular analysis, often negatively impacting the molecular profiling of tumor patients owing to inadequate tissue samples, or lack thereof.Areas covered: In this scenario, LB has become a dynamic and easily-to-handle, integrative source of nucleic acids, filling the gap in tissue sample availability for molecular profiling. Moreover, cost-effectiveness analyses have also shown that when LB is correctly applied to clinical settings, healthcare spending can be optimized, enabling an increase in quality-adjusted life years at an affordable cost.Expert opinion: While LB has the potential to reduce the need for invasive TB and expedite treatment decisions, its cost-effectiveness hinges on long-term clinical outcomes and healthcare resource utilization. In this scenario, 'new era platforms' endowed with advanced liquid handling technologies could not only improve its efficiency and reduce costs but also enable higher-throughput experiments with much larger sample sizes.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"555-573"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144625680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Isothermal amplification for rapid and sensitive detection of hepatitis B virus: what we know so far? and way forward. 等温扩增用于快速、灵敏地检测乙型肝炎病毒：到目前为止我们知道什么？向前走。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-09-01 Epub Date: 2025-07-06 DOI: 10.1080/14737159.2025.2527634

Sharan Prerana, Ballamoole Krishna Kumar, Anoop Kumar, Praveen Rai

{"title":"Isothermal amplification for rapid and sensitive detection of hepatitis B virus: what we know so far? and way forward.","authors":"Sharan Prerana, Ballamoole Krishna Kumar, Anoop Kumar, Praveen Rai","doi":"10.1080/14737159.2025.2527634","DOIUrl":"10.1080/14737159.2025.2527634","url":null,"abstract":"Introduction: Despite vaccine availability, Hepatitis B Virus (HBV) remains a major global health threat, especially in areas with low vaccination coverage and poor healthcare. Around 250 million people are chronically infected. Achieving the World Health Organisation's (WHO) 2030 eradication goal is difficult, particularly due to diagnostic challenges in low-resource settings. While HBsAg detection is standard, low antigen levels and mutations hinder its reliability. Though molecular methods for HBV DNA offer high specificity, their cost and complexity limit use in under-resourced areas. Isothermal amplification emerges as a promising alternative, offering a more affordable, effective, and simplified approach to HBV detection, potentially improving access to timely diagnosis and care.Areas covered: This review evaluates the efficacy of various isothermal techniques to give insights into their benefits and limits, guiding researchers and clinicians in selecting the most effective assays for HBV molecular diagnostics.Expert opinion: Recombinase Polymerase Amplification (RPA) and Polymerase Spiral Reaction (PSR) are the most promising isothermal assays for HBV detection in field settings. RPA is faster (∼20 min), works at low temperatures (37-42 °C), and uses stable lyophilized reagents, while PSR is simple, can be clubbed with visual detection, making both ideal for a low-resource setup.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"575-590"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144527077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Neurofilament light chain as a biomarker for neuronal injury in CNS infections. 神经丝轻链作为中枢神经系统感染中神经元损伤的生物标志物。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-08-01 Epub Date: 2025-05-25 DOI: 10.1080/14737159.2025.2509023

Lars Hagberg, Henrik Zetterberg, Magnus Gisslén

引用次数: 0

Primary open-angle glaucoma: a perspective from plasma metabolomics. 原发性开角型青光眼：血浆代谢组学的视角。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-08-01 Epub Date: 2025-06-17 DOI: 10.1080/14737159.2025.2518138

Emily Dorairaj, Alex Arshavsky, Sanjoy K Bhattacharya

{"title":"Primary open-angle glaucoma: a perspective from plasma metabolomics.","authors":"Emily Dorairaj, Alex Arshavsky, Sanjoy K Bhattacharya","doi":"10.1080/14737159.2025.2518138","DOIUrl":"10.1080/14737159.2025.2518138","url":null,"abstract":"Introduction: Primary open-angle glaucoma (POAG) is an optic neuropathy, characterized by progressive loss of visual field, loss of retinal ganglion cells (RGC) and optic nerve damage. The diagnosis and management of POAG involves tests such as static perimetry, tonometry and optical coherence tomography (OCT) to track progressive structural and functional changes. All these methods have limitations. Advancements in the discovery of metabolomic plasma-derived biomarkers may improve clinical outcomes, through identifying susceptible individuals, predicting disease progression, and assessing treatment efficacy in POAG.Areas covered: We reviewed the current state of POAG management, identified limitations and need for biomarkers that could potentially fill the gap and current landscape of POAG plasma metabolomics, providing an overview of future potential biomarkers.Expert opinion: Advances in the identification of metabolomic biomarkers can improve current clinical practices. These biomarkers can complement existing diagnostic tools, allowing for earlier detection and personalized treatment strategies. However, challenges remain, including a lack of standardization in metabolomics protocols, variability in disease progression and finally, recording treatment non-response currently also suffers from a lack of standardization toward depicting treatment outcomes. Future research should focus on standardizing procedures, increasing diversity in study populations, and conducting longitudinal studies to validate biomarkers in clinical settings.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"453-463"},"PeriodicalIF":3.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The discovery of biomarkers for endometrial cancer: update over the last years. 子宫内膜癌生物标志物的发现：过去几年的最新进展。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-08-01 Epub Date: 2025-06-02 DOI: 10.1080/14737159.2025.2505546

Tea Lanišnik Rižner, Andrea Romano

{"title":"The discovery of biomarkers for endometrial cancer: update over the last years.","authors":"Tea Lanišnik Rižner, Andrea Romano","doi":"10.1080/14737159.2025.2505546","DOIUrl":"10.1080/14737159.2025.2505546","url":null,"abstract":"Introduction: Early diagnosis is essential for a good prognosis of patients with endometrial cancer; however, there are currently no noninvasive tests available. Despite the good prognosis with early diagnosis, a significant minority of women will recur, and biomarkers are needed to stratify patients according to their risk of recurrence.Context: In recent decades, the discovery of blood biomarkers to facilitate diagnosis and improve risk stratification of EC patients has been actively pursued.Areas covered: The present review is an update of candidate blood biomarkers for the diagnosis and prognosis of endometrial cancer reported in the past eight years, following an earlier review. The literature search was conducted in the PubMed database for the period between July 2016 and September 2024. This review describes studies investigating tumor markers, proteins, metabolites and miRNAs and their diagnostic and prognostic properties. The quality of the included studies is assessed and the limitations and potential for translation into clinical application are discussed.Expert opinion/commentary: Individual biomarker candidates do not offer optimal diagnostic and prognostic characteristics. The use of omics for biomarker discovery is promising, but development in this area is lagging behind due to methodological issues and a lack of external validation.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"425-452"},"PeriodicalIF":3.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144208112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

What makes a « good » companion diagnostic in thoracic oncology? 什么是胸肿瘤学的“好”伴诊？

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-08-01 Epub Date: 2025-06-04 DOI: 10.1080/14737159.2025.2514558

Paul Hofman, Simon Heeke

引用次数: 0

Genetic variant in LncRNA-NKILA associated with gastric cancer susceptibility and the binding with miR-6731-5p. LncRNA-NKILA基因变异与胃癌易感性及与miR-6731-5p的结合

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-08-01 Epub Date: 2025-05-02 DOI: 10.1080/14737159.2025.2499898

Qiuyu Sun, Ye Zhang, Qian Yang, Xiaolin Chen, Yiran Wang, Yuwei Hou, Yaodong Zhang, Kaijuan Wang

{"title":"Genetic variant in LncRNA-NKILA associated with gastric cancer susceptibility and the binding with miR-6731-5p.","authors":"Qiuyu Sun, Ye Zhang, Qian Yang, Xiaolin Chen, Yiran Wang, Yuwei Hou, Yaodong Zhang, Kaijuan Wang","doi":"10.1080/14737159.2025.2499898","DOIUrl":"10.1080/14737159.2025.2499898","url":null,"abstract":"Background: This study aims to assess the association between lncRNA-NKILA single nucleotide polymorphisms (SNPs) and susceptibility to gastric cancer in the Chinese Han population.Research design and methods: Four functional SNPs (rs911157, rs16981280, rs2273534, and rs957313) were validated using bioinformatics analysis and genotyped in 490 patients and 490 controls. A case-control study was conducted to analyze the association between NKILA SNPs and gastric cancer risk. qRT-PCR was conducted to detect the NKILA expression in plasma of different rs911157 and rs16981280 genotypes. The effect of rs16981280 C>T mutation on the binding ability of NKILA and miR-6731-5p was verified by dual-luciferase experiment.Results: In this study, rs911157 CT genotype (OR:1.72, 95%CI:1.20-2.69) was associated with an increased risk of gastric cancer, whereas rs16981280 CG (OR:0.64, 95%CI:0.48-0.85) and GG genotypes (OR:0.56, 95%CI:0.36-0.87) were associated with a reduced risk. The population attributable risk percentage for rs911157 T-carriers was below 10%, while for the rs16981280 CC genotype was approximately 15%. Rs911157 C carried a binding site with miR-6731-5p while T allele might cause the target loss.Conclusions: In summary, NKILA polymorphism might be related to the susceptibility of gastric cancer. NKILA rs911157 C/T genotype probably affects the function of gastric cancer cells by modulating the interactions with of miR-6731-5p.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"509-515"},"PeriodicalIF":3.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143963593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of novel biomarkers in renal cell carcinoma. 肾细胞癌新生物标志物的鉴定。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-08-01 Epub Date: 2025-06-11 DOI: 10.1080/14737159.2025.2518134

Fernanda Fernandes-Pontes, João Lobo, Carmen Jeronimo, Rui Henrique

{"title":"Identification of novel biomarkers in renal cell carcinoma.","authors":"Fernanda Fernandes-Pontes, João Lobo, Carmen Jeronimo, Rui Henrique","doi":"10.1080/14737159.2025.2518134","DOIUrl":"10.1080/14737159.2025.2518134","url":null,"abstract":"Introduction: Renal Cell Carcinoma (RCC) is a heterogeneous disease, with distinct clinical outcomes for each subtype. Even within subtypes, outcomes differ and there is a need for novel biomarkers enabling risk stratification or predicting response to targeted therapies.Areas covered: Epigenetic alterations, particularly aberrant DNA methylation and microRNAs deregulation, are a biomarker source that might be evaluated in liquid biopsies. Moreover, despite the ground knowledge that RCC comprises different histological entities, most studies still focus on 'RCC' in general and do not consider different subtypes. The most promising microRNAs for ccRCC identification are miR-210-3p, miR-21-3p, and miR-155-5p, which might help accurately subtype RCC, being closer to clinical routine but still lacking validation. Besides, miR-146-a and miR-126-a are promising biomarkers to predict response to immune checkpoint inhibitors.Expert opinion: Substantial developments in molecular diagnostics have been recently made, namely regarding liquid biopsies, despite the lack of biomarkers approved for clinical routine. The inclusion of dedicated Pathologists in biomarker studies remains crucial to truly achieving clinical relevance. Furthermore, combination of artificial intelligence with molecular biomarkers may foster personalized RCC management, with improved precision.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"465-477"},"PeriodicalIF":3.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Early biomarker for autism spectrum disorder unveiled - what are we learning? 自闭症谱系障碍的早期生物标志物揭晓——我们了解到了什么？

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-08-01 Epub Date: 2025-06-11 DOI: 10.1080/14737159.2025.2518143

Daniel A Rossignol, Richard E Frye

引用次数: 0

Best practices in sample management and molecular profiling of cholangiocarcinoma: a practical guide. 胆管癌样本管理和分子分析的最佳实践：实用指南。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-08-01 Epub Date: 2025-06-12 DOI: 10.1080/14737159.2025.2518145

Florian Castet, Maria Teresa Salcedo, Paolo Nuciforo, Susana Aguilar, Ana Vivancos

{"title":"Best practices in sample management and molecular profiling of cholangiocarcinoma: a practical guide.","authors":"Florian Castet, Maria Teresa Salcedo, Paolo Nuciforo, Susana Aguilar, Ana Vivancos","doi":"10.1080/14737159.2025.2518145","DOIUrl":"10.1080/14737159.2025.2518145","url":null,"abstract":"Introduction: Cholangiocarcinoma (CCA) is an uncommon yet aggressive malignancy often diagnosed at advanced stages. Its management is challenged by significant molecular heterogeneity and limited treatment options. Advances in next-generation sequencing (NGS) have identified actionable alterations, such as FGFR2 fusions, thereby facilitating a precision oncology approach for CCA management.Areas covered: This review consolidates current evidence and expert insights on molecular profiling in CCA. It examines the histopathological subtypes and addresses diagnostic challenges associated with their diagnosis. Critical pre-analytical factors, including biopsy techniques, tissue handling, and tumor heterogeneity, are discussed in relation to their impact on molecular testing. The review also evaluates DNA-based versus RNA-based NGS methodologies, highlighting their strengths and limitations in detecting complex genomic alterations. The role of liquid biopsy as a minimally invasive tool for dynamic tumor monitoring is also explored.Expert opinion: The routine integration of molecular profiling for CCA requires the best histopathological diagnosis and pre-analytical preparation practices. Diagnostic workflows should prioritize meticulous tissue handling to ensure robust molecular analyses to avoid tissue exhaustion and preserve the integrity of nucleic acids. Employing DNA plus RNA sequencing platforms, supported by molecular tumor boards, is recommended to enhance patient stratification and guide therapeutic decision-making in CCA.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"479-494"},"PeriodicalIF":3.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0