Expert Review of Molecular Diagnostics最新文献_第2页

Biomarker guided immunomodulatory precision medicine to improve prognostic, predictive and adaptive enrichment strategies in sepsis trials. 生物标志物引导免疫调节精准医学改善脓毒症试验的预后、预测和适应性富集策略。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-07-01 Epub Date: 2025-05-17 DOI: 10.1080/14737159.2025.2505537

Antonia Alevizou, Panagiota Soulioti, Evangelos J Giamarellos-Bourboulis, Asimina Safarika

{"title":"Biomarker guided immunomodulatory precision medicine to improve prognostic, predictive and adaptive enrichment strategies in sepsis trials.","authors":"Antonia Alevizou, Panagiota Soulioti, Evangelos J Giamarellos-Bourboulis, Asimina Safarika","doi":"10.1080/14737159.2025.2505537","DOIUrl":"10.1080/14737159.2025.2505537","url":null,"abstract":"Introduction: The aim of this review is to summarize the advances of the last 5 years in the field of biomarker-guided therapeutic approach in sepsis through prognostic, predictive, and adaptive enrichment strategies.Areas covered: A thorough search of the literature was done based on the existing biomarkers for which clinical trials of integration in the inclusion criteria are available. The authors reviewed the accessible completed and ongoing studies, which use IL-6, ferritin, IL-7, sTREM-1, IL-15, HLA-DR, DPP-3 and/or bioADM for diagnosis of sepsis or septic shock, prognosis of outcome of interest or/and personalized treatment tailored to each patient's endotype classification.Expert opinion: Inconclusive sepsis trial outcomes highlight the need for strategic protocol design, patient stratification, and biomarker-guided immunomodulatory therapies. Future advancements should focus on real-time biomarker monitoring, personalized treatment, and point-of-care diagnostics to optimize therapeutic efficacy and patient outcomes.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"357-369"},"PeriodicalIF":3.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143985713","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

A systematic review on the molecular pathways of Ameloblastic carcinoma when compared to Ameloblastoma. 成釉细胞癌与成釉细胞瘤分子途径的系统综述。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-07-01 Epub Date: 2025-04-28 DOI: 10.1080/14737159.2025.2499180

Nikita Garg, Revathi Krishna, Aadithya B Urs, Priya Kumar, Jeyaseelan Augustine

{"title":"A systematic review on the molecular pathways of Ameloblastic carcinoma when compared to Ameloblastoma.","authors":"Nikita Garg, Revathi Krishna, Aadithya B Urs, Priya Kumar, Jeyaseelan Augustine","doi":"10.1080/14737159.2025.2499180","DOIUrl":"10.1080/14737159.2025.2499180","url":null,"abstract":"Background: Ameloblastic carcinoma (AC), malignancy originating from the odontogenic epithelium, shows histological overlap with ameloblastoma (AM). In order to unravel mechanisms driving AC, it is imperative to understand the molecular distinction between these two entities. This systematic review aims to highlight molecular and immunohistochemical markers involved in the pathogenesis of AC and to distinguish it from its histological mimic, AM.Research design and methods: Literature search across three databases including PubMed, Web of Sciences, and Scopus was carried out from year 1999 to 2023 for original human case control studies involving AM, AC, and controls as study groups. Various biological markers studied in the literature were grouped based on principal molecular pathways. Joanna Briggs Institute (JBI), a critical appraisal tool for case control studies, was used to assess the risk of bias (RoB).Results: Out of the 277 studies identified during the initial search, 28 studies were found eligible. These studies reported expression of various immunohistochemical (IHC), genetic and epigenetic markers in AC, AM, and controls through immunohistochemistry and gene sequencing.Conclusion: Stem cells, epigenetics, and growth factors define the pathways involved in pathogenesis of AC and may prove to be a potential therapeutic target in the future.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"395-407"},"PeriodicalIF":3.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974349","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

From barriers to solutions: an expert-based algorithm for cholangiocarcinoma and other biliary tract cancers testing in the Era of precision oncology. 从障碍到解决方案：精确肿瘤学时代胆管癌和其他胆道癌症检测的专家算法。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-06-29 DOI: 10.1080/14737159.2025.2521538

Albrecht Stenzinger, Nicola Normanno, Angela Lamarca, Lorenza Rimassa, Fréderic Bibeau, Philippe Taniere, Arndt Vogel, Antoine Hollebecque

{"title":"From barriers to solutions: an expert-based algorithm for cholangiocarcinoma and other biliary tract cancers testing in the Era of precision oncology.","authors":"Albrecht Stenzinger, Nicola Normanno, Angela Lamarca, Lorenza Rimassa, Fréderic Bibeau, Philippe Taniere, Arndt Vogel, Antoine Hollebecque","doi":"10.1080/14737159.2025.2521538","DOIUrl":"10.1080/14737159.2025.2521538","url":null,"abstract":"Introduction: Biliary tract cancer (BTC) comprises a group of aggressive malignancies with poor prognosis and limited therapeutic options. Next-generation sequencing (NGS) has advanced BTC management by identifying targetable genomic alterations. However, routine multigene NGS testing faces clinical, logistical, and economic barriers to widespread implementation.Areas covered: A multidisciplinary panel of eight experts from Germany, France, the UK, Spain, and Italy convened to explore national challenges in NGS adoption and propose a structured molecular profiling approach. Discussions addressed pre-analytical tissue handling, sequencing strategies, and access limitations.Expert opinion: Despite molecular advances, NGS access varies significantly across Europe. Barriers include suboptimal tissue sampling, restricted reimbursement, infrastructure gaps, and limited bioinformatics support. The panel recommends combined DNA and RNA sequencing as the ideal approach. In settings without NGS, referral to equipped centers is advised, with single-gene assays reserved for essential targets. This algorithm is a temporary yet practical guide to inform treatment decisions under current healthcare constraints, aiming to support equitable and informed care for BTC patients.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-14"},"PeriodicalIF":3.9,"publicationDate":"2025-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505201","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

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 3.9 3区医学

Expert Review of Molecular Diagnostics Pub 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":"1-11"},"PeriodicalIF":3.9,"publicationDate":"2025-06-17","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

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 3.9 3区医学

Expert Review of Molecular Diagnostics Pub 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":"1-16"},"PeriodicalIF":3.9,"publicationDate":"2025-06-12","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

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

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub 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":"1-13"},"PeriodicalIF":3.9,"publicationDate":"2025-06-11","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 3.9 3区医学

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

Daniel A Rossignol, Richard E Frye

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 3.9 3区医学

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

Paul Hofman, Simon Heeke

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 3.9 3区医学

Expert Review of Molecular Diagnostics Pub 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":"https://doi.org/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":"1-28"},"PeriodicalIF":3.9,"publicationDate":"2025-06-02","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

The use of metagenomics to enhance diagnosis of encephalitis. 宏基因组学在脑炎诊断中的应用。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-06-01 Epub Date: 2025-05-07 DOI: 10.1080/14737159.2025.2500655

Sarah Buddle, Oscar Enrique Torres Montaguth, Sofia Morfopoulou, Judith Breuer, Julianne R Brown

{"title":"The use of metagenomics to enhance diagnosis of encephalitis.","authors":"Sarah Buddle, Oscar Enrique Torres Montaguth, Sofia Morfopoulou, Judith Breuer, Julianne R Brown","doi":"10.1080/14737159.2025.2500655","DOIUrl":"10.1080/14737159.2025.2500655","url":null,"abstract":"Introduction: Encephalitis has a broad etiology, including infectious and auto-immune causes. In infectious encephalitis, the breadth of causative organisms results in incomplete testing and low diagnostic yields.Metagenomics sequences all DNA and RNA allowing untargeted detection of all organisms in a single specimen; this is of particular use in diagnosis of encephalitis with a broad etiology.Areas covered: We review the literature and discuss metagenomics workflows, host depletion and pathogen enrichment methods, bioinformatics analysis and potential analysis of the host transcriptome to aid diagnosis. We discuss the clinical use of metagenomics for diagnosis of neurological infection including time to result, cost, quality assurance, patient cohorts in whom metagenomics adds the most value, recommended specimen types, limitations and review published cases in which metagenomics has been used to diagnose encephalitis.Expert opinion: There is good evidence for the utility of metagenomics to diagnose infection in encephalitis. Due to infections with rare, unexpected or novel pathogens, metagenomics adds most value to diagnosis in immunocompromised patients and the greatest diagnostic yield is in brain biopsies. Technical advances are needed to reduce the complexity, cost and time to result which will enable wider adoption in clinical laboratories and use as a first-line test.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"245-262"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143960004","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