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":"<p><strong>Introduction: </strong>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.</p><p><strong>Areas covered: </strong>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.</p><p><strong>Expert opinion: </strong>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.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"495-508"},"PeriodicalIF":3.6,"publicationDate":"2025-08-01","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}
{"title":"Intraoperative detection of axillary metastasis of breast cancer using nucleic acid amplification methods: review of advantages and limitations.","authors":"Dorsa Safari, Sepideh Razi, Nima Rezaei","doi":"10.1080/14737159.2025.2511811","DOIUrl":"10.1080/14737159.2025.2511811","url":null,"abstract":"<p><strong>Introduction: </strong>In the management of breast cancer, the need for assessment of axillary status has been questionable in recent years. However, it is still applicable for making a decision on adjuvant therapy and evaluating the prognosis. Molecular tests have been widely used for intraoperative detection of axillary lymph node metastases and have prevented a second surgery for dissection of the lymph nodes in at least 20% of the cases. Unlike histopathological examination, molecular tests do not need a specialized technologist to provide the results.</p><p><strong>Areas covered: </strong>We have reviewed recent advancements in the assessment of axillary nodes by molecular studies such as one-step nucleic acid amplification (OSNA) assay and metasin test. Our work concentrated on reported thresholds for the tests, economical aspects, and newly developed devices throughout the current literature.</p><p><strong>Expert opinion: </strong>Well-designed clinical trials on molecular assays could lead to individualized management of the axillary, while preventing additional surgical operations in a large proportion of women with breast cancer.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"385-394"},"PeriodicalIF":3.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144136153","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}
Chong Liu, Yinghong Dai, Xinxue Li, Tiantian Xu, Jinchen Li, Guihu Zhao, Sijia Liu, Bin Li
{"title":"A novel metabolomic aging score - better than conventional metrics in predicting short-term mortality.","authors":"Chong Liu, Yinghong Dai, Xinxue Li, Tiantian Xu, Jinchen Li, Guihu Zhao, Sijia Liu, Bin Li","doi":"10.1080/14737159.2025.2509027","DOIUrl":"10.1080/14737159.2025.2509027","url":null,"abstract":"<p><strong>Introduction: </strong>Accurate prediction of short-term mortality is crucial for optimizing clinical prognosis and providing treatment decisions. Conventional metrics, including physiological indicators, laboratory indexes and scoring systems, suffer from limitations in comprehensiveness, accuracy, and dynamism. In contrast, the metabolomic aging score, as an emerging biomarker, offers substantial promise in short-term mortality prediction.</p><p><strong>Areas covered: </strong>By integrating multiple metabolites associated with aging and mortality, the score captures dynamic metabolic shifts, providing a real-time reflection of an individual's health status. This approach enables a more precise assessment of short-term mortality risk across diverse diseases, setting it apart from traditional, disease-specific biomarkers. In addition, the metabolic aging score also shows great application prospects in identifying susceptible populations and providing individualized precision medication. This article discusses the novel role of the metabolomic aging score in mortality prediction, highlighting its superior accuracy compared to conventional metrics.</p><p><strong>Expert opinion: </strong>This score has broad application prospects in the future and also faces challenges such as large-scale validation and standardization. Furthermore, the integration of artificial intelligence (AI) is poised to enhance the clinical utility of the metabolomic aging score, advancing its potential to transform healthcare practices.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"329-340"},"PeriodicalIF":3.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110277","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}
Natalia P Rocha, Erin Furr-Stimming, Antonio L Teixeira
{"title":"Cytokines as biomarkers of Huntington's disease progression.","authors":"Natalia P Rocha, Erin Furr-Stimming, Antonio L Teixeira","doi":"10.1080/14737159.2025.2498539","DOIUrl":"10.1080/14737159.2025.2498539","url":null,"abstract":"","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"309-312"},"PeriodicalIF":3.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965166","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}
{"title":"Advances in pancreatic cancer diagnosis: from DNA methylation to AI-assisted imaging.","authors":"Rohit Sharma, Kumari Komal, Sourabh Kumar, Rashmi Ghosh, Prachi Pandey, Ghanshyam Das Gupta, Manish Kumar","doi":"10.1080/14737159.2025.2509022","DOIUrl":"10.1080/14737159.2025.2509022","url":null,"abstract":"<p><strong>Introduction: </strong>Pancreatic Cancer (PC) is a highly aggressive tumor that is mainly diagnosed at later stages. Various imaging technologies, such as CT, MRI, and EUS, possess limitations in early PC diagnosis. Therefore, this review article explores the various innovative biomarkers for PC detection, such as DNA methylation, Noncoding RNAs, and proteomic biomarkers, and the role of AI in PC detection at early stages.</p><p><strong>Area covered: </strong>Innovative biomarkers, such as DNA methylation genes, show higher specificity and sensitivity in PC diagnosis. Additionally, various non-coding RNAs, such as long non-coding RNAs (lncRNAs) and microRNAs, show high diagnostic accuracy and serve as diagnostic and prognostic biomarkers. Additionally, proteomic biomarkers retain higher diagnostic accuracy in different body fluids. Apart from this, the utilization of AI showed that AI surpassed the radiologist's diagnostic performance in PC detection.</p><p><strong>Expert opinion: </strong>The combination of AI and advanced biomarkers can revolutionize early PC detection. However, large-scale, prospective studies are needed to validate its clinical utility. Further. standardization of biomarker panels and AI algorithms is a vital step toward their reliable applications in early PC detection, ultimately improving patient outcomes. [Figure: see text].</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"371-383"},"PeriodicalIF":3.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101701","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}
{"title":"Non-conventional diagnostic methods for invasive fungal infections.","authors":"K Rosam, S Steixner, A Bauer, C Lass-Flörl","doi":"10.1080/14737159.2025.2509026","DOIUrl":"10.1080/14737159.2025.2509026","url":null,"abstract":"<p><strong>Introduction: </strong>Biomarkers have transformed fungal diagnostics by enabling early detection, risk assessment and treatment monitoring. Their clinical value depends on factors e.g. sensitivity, specificity, host immune status and technical standardization.</p><p><strong>Area covered: </strong>This review covers antigen- and DNA-based methods for detecting invasive fungal infections, focusing on <i>Aspergillus</i> spp., <i>Candida</i> spp. and Mucorales.</p><p><strong>Expert opinion: </strong>The selection of fungal biomarkers should be tailored to patient populations, clinical setting, and suspected infections. Combining biomarkers enhances diagnostic accuracy, particularly in high-risk patients. While biomarkers indicate fungal presence, they support diagnosis and guide decisions, but must be interpreted alongside clinical context and guidelines (EORTC/MSG). [Figure: see text].</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"313-327"},"PeriodicalIF":3.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198632","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}
{"title":"Saliva-based Hormone Diagnostics: advances, applications, and future perspectives.","authors":"Carolina Ruis Ferrari, Samanta Mascarenhas Moraes, Marília Afonso Rabelo Buzalaf","doi":"10.1080/14737159.2025.2505527","DOIUrl":"10.1080/14737159.2025.2505527","url":null,"abstract":"<p><strong>Introduction: </strong>Saliva has emerged as an important biological fluid for diagnostics, particularly hormone analysis. Its noninvasive collection and accessibility make it a compelling alternative to traditional blood-based diagnostics, enabling detection of biomarkers reflecting physiological and pathological conditions.</p><p><strong>Areas covered: </strong>This review examines hormones measurable in saliva, including cortisol, testosterone, progesterone, estradiol, dehydroepiandrosterone (DHEA), and others. It highlights methods such as Enzyme-Linked Immunosorbent Assay (ELISA), Radioimmunoassay, and Liquid Chromatography coupled with Tandem Mass Spectrometry (LC-MS/MS) for hormonal analysis, focusing on their sensitivity and challenges. The discussion addresses the advantages and limitations of saliva as a diagnostic medium, including practicality and susceptibility to external influences. Clinical applications are explored, including stress monitoring, hormonal dysfunction diagnosis, and applications in personalized medicine.</p><p><strong>Expert opinion: </strong>Salivary diagnostics holds significant potential in clinical and research contexts, particularly for hormone analysis. Despite challenges such as hormonal variability and technical limitations, advances are steadily overcoming these barriers. The noninvasive and accessible nature of saliva collection positions it as a promising medium for diagnostic innovation. Continued research, coupled with standardization of techniques, will be critical to fully harnessing saliva-based diagnostics for advancing personalized medicine, influencing the detection, diagnosis, and prognosis of certain conditions.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"341-355"},"PeriodicalIF":3.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143960383","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}
{"title":"The status of standardization in methodologies for tear fluid biomarkers.","authors":"Marlies Gijs, Suzanne Hagan, Amalia Enríquez-de-Salamanca","doi":"10.1080/14737159.2025.2486680","DOIUrl":"10.1080/14737159.2025.2486680","url":null,"abstract":"","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"305-307"},"PeriodicalIF":3.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763564","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}
{"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":"<p><strong>Introduction: </strong>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.</p><p><strong>Areas covered: </strong>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.</p><p><strong>Expert opinion: </strong>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.</p>","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}
{"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":"<p><strong>Background: </strong>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.</p><p><strong>Research design and methods: </strong>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).</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","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}