Expert Review of Molecular Diagnostics最新文献

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Decoding pancreatic cancer: key risk factors across genetics and lifestyle. 破解胰腺癌:遗传和生活方式的关键风险因素。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2025-04-01 Epub Date: 2025-02-08 DOI: 10.1080/14737159.2025.2464563
Rohit Sharma, Rashmi Ghosh, Sourabh Kumar, Kumari Komal, Manish Kumar
{"title":"Decoding pancreatic cancer: key risk factors across genetics and lifestyle.","authors":"Rohit Sharma, Rashmi Ghosh, Sourabh Kumar, Kumari Komal, Manish Kumar","doi":"10.1080/14737159.2025.2464563","DOIUrl":"10.1080/14737159.2025.2464563","url":null,"abstract":"","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"95-99"},"PeriodicalIF":3.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364087","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 association between blood sodium levels and survival in patients treated with immune checkpoint inhibitors. 接受免疫检查点抑制剂治疗的患者血钠水平与生存之间的关系
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2025-04-01 Epub Date: 2025-02-27 DOI: 10.1080/14737159.2025.2472946
Taha Koray Sahin, Deniz Can Guven, Mert Durukan, Gozde Kavgaci, Yunus Kaygusuz, Zafer Arik, Omer Dizdar, Mustafa Erman, Suayib Yalcin, Sercan Aksoy
{"title":"The association between blood sodium levels and survival in patients treated with immune checkpoint inhibitors.","authors":"Taha Koray Sahin, Deniz Can Guven, Mert Durukan, Gozde Kavgaci, Yunus Kaygusuz, Zafer Arik, Omer Dizdar, Mustafa Erman, Suayib Yalcin, Sercan Aksoy","doi":"10.1080/14737159.2025.2472946","DOIUrl":"10.1080/14737159.2025.2472946","url":null,"abstract":"<p><strong>Background: </strong>Immune checkpoint inhibitors (ICIs) have transformed the treatment landscape for solid tumors, offering substantial survival benefits. Despite this progress, many patients do not achieve durable responses, highlighting the need for novel prognostic biomarkers. This study investigates the association between serum sodium levels and survival outcomes in patients treated with ICIs.</p><p><strong>Research design and methods: </strong>We conducted a retrospective cohort study involving 509 patients with metastatic solid tumors treated with ICIs. We assessed overall survival (OS), progression-free survival (PFS), and response rates using Kaplan-Meier survival analysis and multivariate cox regression analysis.</p><p><strong>Results: </strong>The median age was 62 years (interquartile range (IQR): 54-69), and 76.6% of the patients were male. Multivariate analysis revealed that serum sodium levels between 135-140 mmol/L were an independent predictor of improved OS (HR: 0.58; 95% CI: 0.44-0.77) and PFS (HR: 0.76; 95%CI: 0.58-0.99) and those with levels > 140 mmol/L had an even lower HR of 0.43 (95% CI:0.31-0.62) for OS and HR of 0.62 (95% CI:0.45-0.86) for PFS.</p><p><strong>Conclusion: </strong>This study highlights that ICI-treated patients with higher sodium levels had significantly better OS, PFS, and anti-tumor responses. Baseline serum sodium levels could be cost-effective and valuable predictive biomarker for ICIs across diverse tumor types and ICI agents.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"129-137"},"PeriodicalIF":3.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500032","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
Unraveling the future: hot topics shaping molecular diagnostics today. 揭示未来:塑造分子诊断学的热门话题。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2025-04-01 Epub Date: 2025-02-19 DOI: 10.1080/14737159.2025.2467969
Sabine Weiskirchen, Ralf Weiskirchen
{"title":"Unraveling the future: hot topics shaping molecular diagnostics today.","authors":"Sabine Weiskirchen, Ralf Weiskirchen","doi":"10.1080/14737159.2025.2467969","DOIUrl":"10.1080/14737159.2025.2467969","url":null,"abstract":"<p><strong>Introduction: </strong>This special report highlights the transformative potential of advanced diagnostic technologies in modern healthcare, emphasizing their role in enhancing disease detection, treatment personalization, and patient outcomes.</p><p><strong>Areas covered: </strong>Innovations such as Next-Generation Sequencing (NGS), liquid biopsy, Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) -based diagnostics, Point-of-Care (PoC) testing, microbiome analysis, and Artificial Intelligence are reshaping the diagnostic landscape. These methods facilitate early identification of diseases, enable tailored therapies based on individual genetic profiles, and provide noninvasive monitoring options. Furthermore, telemedicine enhances access to care while reducing costs associated with traditional healthcare delivery. Despite these advancements, challenges remain regarding regulatory compliance, data privacy concerns, and disparities in access to diagnostic services. The report underscores the need for ongoing collaboration among stakeholders to address these limitations effectively.</p><p><strong>Expert opinion: </strong>By prioritizing equitable access and continuously evaluating emerging technologies' impact on patient safety and health outcomes, the healthcare system can harness the full potential of modern diagnostics to improve global health.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"111-116"},"PeriodicalIF":3.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432672","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
Comprehensive genomic profiling: a public health system perspective. 综合基因组分析:公共卫生系统的观点。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2025-04-01 Epub Date: 2025-03-05 DOI: 10.1080/14737159.2025.2471794
Themistoklis Paraskevas, Michail Papapanou, Theodoros N Sergentanis, Ilias Kyriopoulos, Kostas Athanasakis
{"title":"Comprehensive genomic profiling: a public health system perspective.","authors":"Themistoklis Paraskevas, Michail Papapanou, Theodoros N Sergentanis, Ilias Kyriopoulos, Kostas Athanasakis","doi":"10.1080/14737159.2025.2471794","DOIUrl":"10.1080/14737159.2025.2471794","url":null,"abstract":"<p><strong>Introduction: </strong>Comprehensive genomic profiling (CGP) is gaining ground in modern precision oncology for its ability to potentially analyze multiple tumor alterations and identify actionable ones, guiding targeted anticancer treatments. However, integrating CGP into healthcare systems demands consideration of the available evidence and collaboration between shareholders.</p><p><strong>Areas covered: </strong>This review explores CGP's cost-effectiveness and feasibility across diverse healthcare settings, based on searches in PubMed, Google Scholar, gray literature, and extensive snowballing. We further aimed to elucidate barriers to routine CGP implementation and discuss potential solutions.</p><p><strong>Expert opinion: </strong>Patients generally express satisfaction with CGP, especially if publicly funded, yet face difficulties in understanding test results, and managing lack of actionable mutations and access to novel treatment avenues. Physicians exhibit confidence in recommending and interpreting CGP for patients with refractory disease and considerable life expectancy and performance status, albeit acknowledging potential treatment delays. Health economic studies support CGP's cost-effectiveness, highlighting increased survival, productivity, reduced medical service utilization, and cost diversion to trial sponsors. Nonetheless, challenges persist, including reimbursement policies, limited testing accessibility, and the imperative for physician training and infrastructure enhancement. Addressing these issues through collaborative efforts and policy adjustments is paramount for realizing the full potential of CGP in advancing precision oncology.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"101-109"},"PeriodicalIF":3.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143531487","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
Dual-energy spectral CT in renal cell carcinoma: dawn of a brand-new era? 双能谱CT诊断肾细胞癌:一个崭新时代的来临?
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2025-04-01 Epub Date: 2025-02-18 DOI: 10.1080/14737159.2025.2467962
Andrea Marchetti, Veronica Mollica, Stefano Brocchi, Arrigo Cattabrigra, Elisa Tassinari, Matteo Rosellini, Francesco Massari
{"title":"Dual-energy spectral CT in renal cell carcinoma: dawn of a brand-new era?","authors":"Andrea Marchetti, Veronica Mollica, Stefano Brocchi, Arrigo Cattabrigra, Elisa Tassinari, Matteo Rosellini, Francesco Massari","doi":"10.1080/14737159.2025.2467962","DOIUrl":"10.1080/14737159.2025.2467962","url":null,"abstract":"","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"91-93"},"PeriodicalIF":3.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413886","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
Peripheral blood biomarkers in monitoring treatment response in breast cancer patients. 外周血生物标志物监测乳腺癌患者治疗反应。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2025-04-01 Epub Date: 2025-02-18 DOI: 10.1080/14737159.2025.2467965
Andres A Ocampo, Xiaopeng Sun, Justin M Balko
{"title":"Peripheral blood biomarkers in monitoring treatment response in breast cancer patients.","authors":"Andres A Ocampo, Xiaopeng Sun, Justin M Balko","doi":"10.1080/14737159.2025.2467965","DOIUrl":"10.1080/14737159.2025.2467965","url":null,"abstract":"","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"87-90"},"PeriodicalIF":3.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11961309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143416746","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
Exploring the prognostic and predictive potential of bacterial biomarkers in non-gastrointestinal solid tumors. 探讨细菌生物标志物在非胃肠道实体瘤中的预后和预测潜力。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2025-04-01 Epub Date: 2025-02-26 DOI: 10.1080/14737159.2025.2465743
Caoimbhe Burke, Thomas Glynn, Chowdhury Jahangir, Clodagh Murphy, Niamh Buckley, Mark Tangney, Arman Rahman, William M Gallagher
{"title":"Exploring the prognostic and predictive potential of bacterial biomarkers in non-gastrointestinal solid tumors.","authors":"Caoimbhe Burke, Thomas Glynn, Chowdhury Jahangir, Clodagh Murphy, Niamh Buckley, Mark Tangney, Arman Rahman, William M Gallagher","doi":"10.1080/14737159.2025.2465743","DOIUrl":"10.1080/14737159.2025.2465743","url":null,"abstract":"<p><strong>Introduction: </strong>Standard clinical parameters like tumor size, age, lymph node status, and molecular markers are used to predict progression risk and treatment response. However, exploring additional markers that reflect underlying biology could offer a more comprehensive understanding of the tumor microenvironment (TME). The TME influences tumor development, progression, disease severity, and survival, with tumor-associated bacteria posited to play significant roles. Studies on tumor-associated microbiota have focused on high bacterial-load sites such as the gut, oral cavity, and stomach, but interest is growing in non-gastrointestinal (GI) solid tumors, such as breast, lung, and pancreas. Microbe-based biomarkers, including <i>Helicobacter pylori</i>, human papillomavirus (HPV), and hepatitis B and C viruses, have proven valuable in predicting gastric, cervical, and renal cancers.</p><p><strong>Areas covered: </strong>Potential of prognostic and predictive bacterial biomarkers in non-GI solid tumors and the methodologies used.</p><p><strong>Expert opinion: </strong>Advances in techniques like 16S rRNA gene sequencing, qPCR, immunostaining, and <i>in situ</i> hybridization have enabled detailed analysis of difficult-to-culture microbes in solid tumors. However, to ensure reliable results, it is critical to standardize protocols, accurately align reads, address contamination, and maintain proper sample handling. This will pave the way for developing reliable bacterial markers that enhance prognosis, prediction, and personalized treatment planning.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"117-128"},"PeriodicalIF":3.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457419","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 diagnostics of fibromyalgia: an overview of the challenges and opportunities. 纤维肌痛的早期诊断:挑战和机遇的概述。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2025-01-01 Epub Date: 2025-01-12 DOI: 10.1080/14737159.2025.2450793
Natalie Malluru, Youssef Abdullah, Kevin V Hackshaw
{"title":"Early diagnostics of fibromyalgia: an overview of the challenges and opportunities.","authors":"Natalie Malluru, Youssef Abdullah, Kevin V Hackshaw","doi":"10.1080/14737159.2025.2450793","DOIUrl":"10.1080/14737159.2025.2450793","url":null,"abstract":"<p><strong>Introduction: </strong>Fibromyalgia is a common pain disorder with features of widespread musculoskeletal pain, fatigue, disrupted sleep, cognitive dysfunction, autonomic dysfunction, and mood disorders. Despite its high prevalence and significant impact on quality of life, the diagnosis and management of fibromyalgia remain challenging. Advancements in classification and diagnostics in broad areas have improved our understanding and treatment approach for this condition. We culminate with a discussion of future directions for research into early diagnostics in fibromyalgia.</p><p><strong>Areas covered: </strong>This perspective examines the current landscape of fibromyalgia biomarker discovery, highlighting challenges that must be addressed and opportunities that are presented as the field evolves.</p><p><strong>Expert opinion: </strong>Advances in fibromyalgia diagnostics provide an opportunity to dramatically reduce the cost burden placed on health resources for fibromyalgia once we have discovered a reliable reproducible biomarker that is widely accepted among practitioners and patients. Promising results in a number of fields may lead to point of care technologies that will be applicable in the office or bedside without the need for transport to specialized centers. Future research should focus on integrating these various diagnostic approaches to develop a comprehensive, multi-modal diagnostic tool for fibromyalgia.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"21-31"},"PeriodicalIF":3.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970081","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
An overview of progress in establishing a diagnostic tool for non-celiac gluten sensitivity. 建立非乳糜泻麸质敏感性诊断工具的进展综述。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2025-01-01 Epub Date: 2025-01-29 DOI: 10.1080/14737159.2025.2458469
Giulia Catassi, Carlo Catassi
{"title":"An overview of progress in establishing a diagnostic tool for non-celiac gluten sensitivity.","authors":"Giulia Catassi, Carlo Catassi","doi":"10.1080/14737159.2025.2458469","DOIUrl":"10.1080/14737159.2025.2458469","url":null,"abstract":"<p><strong>Introduction: </strong>Non-Celiac Gluten Sensitivity (NCGS) is a common disorder characterized by symptoms resembling those of irritable bowel syndrome. In recent years there has been progress in the understanding of the pathogenic pathways and data suggest that NCGS has a distinct immunological profile that differs from celiac disease (CeD). This has fostered the search for a specific biomarker of NCGS.</p><p><strong>Areas covered: </strong>In this review we will firstly update on pioneer NCGS diagnostic tools, particularly the gluten challenge, serum IgG class antigliadin antibodies, and certain histological characteristics seen at the small intestinal biopsy. Then we will examine the most recent research on potential biomarkers of NCGS, specifically focusing on markers of damage to enterocytes, of translocation of bacteria from the gut into the bloodstream, intestinal permeability, and inflammation.</p><p><strong>Expert opinion: </strong>So far, no specific biomarker of NCGS has been detected. The diagnosis of NCGS still relies on clinical criteria. A gluten challenge may be useful for diagnostic purposes, however a strong nocebo effect limits the efficacy of this procedure. Additional investigation is necessary to identify biomarkers for NCGS, that may be useful to investigate the epidemiology, clinical spectrum, and natural history of this common disorder.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"59-66"},"PeriodicalIF":3.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037730","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
Gestational trophoblastic disease: STR genotyping for precision diagnosis. 妊娠滋养细胞疾病:STR基因分型用于精确诊断。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2025-01-01 Epub Date: 2025-01-19 DOI: 10.1080/14737159.2025.2453506
Krasimira A Rozenova, Natalia Buza, Pei Hui
{"title":"Gestational trophoblastic disease: STR genotyping for precision diagnosis.","authors":"Krasimira A Rozenova, Natalia Buza, Pei Hui","doi":"10.1080/14737159.2025.2453506","DOIUrl":"10.1080/14737159.2025.2453506","url":null,"abstract":"<p><strong>Introduction: </strong>Gestational trophoblastic disease (GTD) encompasses a constellation of rare to common gynecologic conditions stemming from aberrant gestations with distinct genetic backgrounds and variable degrees of trophoblast proliferation of either neoplastic or non-neoplastic nature. GTD is categorized into hydatidiform moles and gestational trophoblastic neoplasms, and their clinical outcomes vary widely across different subtypes. Prompt and accurate diagnosis plays a pivotal role in the effective management and prognostication of patients. Short tandem repeats (STRs) are repetitive DNA sequences dispersed throughout the human genome and inherit a tremendous genetic polymorphism among individuals. Widely recognized for its applications in forensic identity and paternity testing, the relevance of STR genotyping in the diagnosis of GTD has emerged as an essential ancillary test in the classification and management of GTD of both non-neoplastic hydatidiform moles and gestational trophoblastic tumors.</p><p><strong>Area covered: </strong>This review discusses fundamental principles, laboratory operation, and diagnostic interpretations of STR genotyping in the context of diagnosis and differential diagnosis of GTD. PubMed was searched for all references up to 2024.</p><p><strong>Expert opinion: </strong>STR genotyping is the gold standard in the diagnosis and subclassification of hydatidiform moles and has an important application in diagnostic workup and risk stratifications of gestational trophoblastic tumors as well.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-19"},"PeriodicalIF":3.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970246","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
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