{"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":"1-13"},"PeriodicalIF":3.9,"publicationDate":"2025-05-17","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":"Diagnostic approach to leptomeningeal involvement in diffuse large B-cell lymphoma.","authors":"Alexandra Šúri, Heidi Mociková","doi":"10.1080/14737159.2025.2485211","DOIUrl":"10.1080/14737159.2025.2485211","url":null,"abstract":"<p><strong>Introduction: </strong>Central nervous system (CNS) involvement in diffuse large B-cell lymphoma (DLBCL) is a rare but serious condition requiring accurate diagnostics. Cerebrospinal fluid (CSF) analysis plays a crucial role, particularly in cases where biopsy is not feasible, and imaging is inconclusive.</p><p><strong>Areas covered: </strong>Chemical markers have limitations, particularly in low-cellularity samples. Novel molecular techniques, including circulating tumor DNA (ctDNA) analysis and microRNAs (miRNAs), are gaining prominence for their ability to detect gene mutations at diagnosis and monitor minimal residual disease during follow-up. The sensitivity and specificity of genetic mutations, particularly MYD88 L265P, in combination with interleukin-10 (IL-10) levels, are discussed. The literature search methodology involved reviewing relevant studies and clinical data.This review examines both traditional and emerging methods for CSF analysis in diagnosing CNS involvement in DLBCL. Conventional approaches such as cytomorphology, flow cytometry, and biochemical markers have limitations, particularly in low-cellularity samples. Novel molecular techniques, including ctDNA analysis and miRNAs, are gaining prominence for their ability to detect gene mutations at diagnosis and monitor minimal residual disease during follow-up. The sensitivity and specificity of genetic mutations, particularly MYD88 L265P, in combination with interleukin-10 (IL-10) levels, are discussed. The literature search methodology involved reviewing relevant studies and clinical data.</p><p><strong>Expert opinion: </strong>Advancements in CSF biomarker analysis are improving the diagnosis of CNS lymphoma, aiding early detection and personalized treatment approaches. However, further research and broader clinical validation are necessary for their routine implementation.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-7"},"PeriodicalIF":3.9,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993737","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":"https://doi.org/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":""},"PeriodicalIF":3.9,"publicationDate":"2025-05-12","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}
Sarah Buddle, Oscar Torres, Sofia Morfopoulou, Judith Breuer, Julianne R Brown
{"title":"The use of metagenomics to enhance diagnosis of encephalitis.","authors":"Sarah Buddle, Oscar Torres, Sofia Morfopoulou, Judith Breuer, Julianne R Brown","doi":"10.1080/14737159.2025.2500655","DOIUrl":"https://doi.org/10.1080/14737159.2025.2500655","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Areas covered: </strong>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.</p><p><strong>Expert opinion: </strong>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.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-18"},"PeriodicalIF":3.9,"publicationDate":"2025-05-07","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}
Iva Hamova, Maria Maco, Anton Tkachenko, Kristyna Kupcova, Adriana Velasova, Marek Trneny, Heidi Mocikova, Ondrej Havranek
{"title":"Circulating tumor DNA as a powerful tool in diagnostics and treatment outcome prediction - focus on large B-cell lymphomas and follicular lymphomas.","authors":"Iva Hamova, Maria Maco, Anton Tkachenko, Kristyna Kupcova, Adriana Velasova, Marek Trneny, Heidi Mocikova, Ondrej Havranek","doi":"10.1080/14737159.2025.2500659","DOIUrl":"https://doi.org/10.1080/14737159.2025.2500659","url":null,"abstract":"<p><strong>Introduction: </strong>Pathogenesis of large B-cell lymphomas (LBCL) and follicular lymphomas (FL) is a multistep process associated with development of diverse DNA alterations and consequent deregulation of critical cellular processes. Detection of tumor-associated mutations within non-tumor compartments (mainly plasma) is the basis of the 'liquid biopsy' concept. Apart from tumor mutational profiling, quantitative analysis of circulating tumor DNA (ctDNA) allows longitudinal assessment of tumor burden. ctDNA-based technologies provide a new tool for tumor diagnostics and treatment personalization.</p><p><strong>Areas covered: </strong>Our review provides a comprehensive overview and summary of available ctDNA studies in LBCL and FL. The accuracy of ctDNA based detection of lymphoma associated DNA alterations is correlated to the known LBCL and FL molecular landscape. Additionally, we summarized available evidence that supports and justifies the clinical use of ctDNA for lymphoma risk stratification, treatment response evaluation, and treatment response-adapted therapy. Lastly, we discuss other clinically important ctDNA applications: monitoring of lymphoma clonal evolution within resistance and/or relapse development and utilization of ctDNA for diagnostics in non-blood fluids and compartments (e.g. cerebrospinal fluid in primary CNS lymphomas).</p><p><strong>Expert opinion: </strong>Despite certain challenges including methodological standardization, ctDNA holds promise to soon become an integral part of lymphoma diagnostics and treatment management.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974724","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 integration of biomarkers and patient-reported outcomes improves prediction of interstitial cystitis syndrome.","authors":"Yu-Chen Chen, Hann-Chorng Kuo","doi":"10.1080/14737159.2025.2502035","DOIUrl":"https://doi.org/10.1080/14737159.2025.2502035","url":null,"abstract":"<p><strong>Introduction: </strong>Interstitial Cystitis/Bladder Pain Syndrome (IC/BPS) is a chronic condition characterized by debilitating bladder pain and urinary symptoms, such as urgency and frequency. Its considerable impact on patients' quality of life is compounded by the diagnostic challenges stemming from symptom overlap with other urological disorders and insufficient standardization of diagnostic criteria.</p><p><strong>Areas covered: </strong>This review examines various key aspects of IC/BPS, including the identification of biomarkers such as interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-α), monocyte chemotactic protein-1 (MCP-1) and vascular endothelial growth factor (VEGF) that correlate with symptom severity and underlying inflammatory processes. It discusses the importance of urinary and serum biomarkers, current challenges in clinical assessments, the variability in biomarker collection and analysis methods, and emphasizes the role of patient-reported outcomes (PROs) such as the O'Leary - Sant (ICSI/ICPI) questionnaires and the Visual Analogue Scale in capturing the patient's subjective experience and quality of life.</p><p><strong>Expert opinion: </strong>Strengthening the integration of biomarkers with PROs is crucial for enhancing diagnostic accuracy and personalizing treatment approaches for IC/BPS patients. The review calls for future research to develop standardized protocols, which will improve patient care by facilitating a more tailored management strategy based on a comprehensive understanding of IC/BPS.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-16"},"PeriodicalIF":3.9,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981129","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":"hTERT rs2735940 polymorphism influences lung cancer risk and overall survival in lung cancer patients undergoing platinum-based doublet chemotherapy.","authors":"Anjali Saini, Heena Kansal, Navneet Singh, Siddharth Sharma","doi":"10.1080/14737159.2025.2500657","DOIUrl":"https://doi.org/10.1080/14737159.2025.2500657","url":null,"abstract":"<p><strong>Background: </strong>The hTERT gene is an essential part of the telomerase enzyme, preserving telomere length and encouraging cellular immortality. The study aimed to investigate whether the TERT gene SNP was associated with an increased risk of lung cancer in the North Indian population.</p><p><strong>Research design and methods: </strong>387 lung cancer patients undergoing platinum-based chemotherapy and 384 healthy controls were genotyped for the TERT variant rs2735940 (T>C) using PCR-RFLP. The study aimed to determine the significant association between the TERT genetic variant and lung cancer risk.</p><p><strong>Results: </strong>Patients carrying homozygous mutant genotype (CC) for rs2735940 showed a significant association (0 R = 2.4, <i>p</i> = 0.03). Furthermore, in dominant model, the combination genotype (TC+CC) showed an increased risk of lung cancer susceptibility with an AOR of 1.67 (<i>p</i> = 0.0016). For TERT rs2735940, individuals with SCLC carrying the mutant genotype (CC) were significantly more likely to develop lung cancer (<i>p</i> = 0.0004). Our results also showed that lung cancer patients carrying the TERT rs2735940 genetic variant who received a combination of docetaxel and cisplatin/carboplatin had better prognosis as compared to alternative chemotherapy regimens.</p><p><strong>Conclusion: </strong>Our study associates' chemotherapy toxicities in North Indian lung cancer patients and the TERT polymorphism rs2735940, delivering insights for improving biomarker development and individualized treatment.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-13"},"PeriodicalIF":3.9,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144063012","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}
Qiuyu Sun, Ye Zhang, Qian Yang, Xiaolin Chen, Yiran Wang, Yuwei Hou, Yaodong Zhang, Kaijuan Wang
{"title":"Genetic variant in <i>LncRNA-NKILA</i> associated with gastric cancer susceptibility and the binding with <i>miR-6731-5p</i>.","authors":"Qiuyu Sun, Ye Zhang, Qian Yang, Xiaolin Chen, Yiran Wang, Yuwei Hou, Yaodong Zhang, Kaijuan Wang","doi":"10.1080/14737159.2025.2499898","DOIUrl":"https://doi.org/10.1080/14737159.2025.2499898","url":null,"abstract":"<p><strong>Background: </strong>This study aims to assess the association between lncRNA-<i>NKILA</i> single nucleotide polymorphisms (SNPs) and susceptibility to gastric cancer in the Chinese Han population.</p><p><strong>Research design and methods: </strong>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.</p><p><strong>Results: </strong>In this study, rs911157 CT genotype (<i>OR</i>:1.72, <i>95%CI</i>:1.20-2.69) was associated with an increased risk of gastric cancer, whereas rs16981280 CG (<i>OR</i>:0.64, <i>95%CI</i>:0.48-0.85) and GG genotypes (<i>OR</i>:0.56, <i>95%CI</i>: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 <i>miR-6731-5p</i> while T allele might cause the target loss.</p><p><strong>Conclusions: </strong>In summary, <i>NKILA</i> polymorphism might be related to the susceptibility of gastric cancer. <i>NKILA</i> rs911157 C/T genotype probably affects the function of gastric cancer cells by modulating the interactions with of <i>miR-6731-5p</i>.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-7"},"PeriodicalIF":3.9,"publicationDate":"2025-05-02","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}
Kristina R Dahlstrom, Erich M Sturgis, Karen S Anderson
{"title":"Screening for oropharyngeal cancer: the time is now.","authors":"Kristina R Dahlstrom, Erich M Sturgis, Karen S Anderson","doi":"10.1080/14737159.2025.2478999","DOIUrl":"10.1080/14737159.2025.2478999","url":null,"abstract":"","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"143-146"},"PeriodicalIF":3.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143673803","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}
Wen Su, Miao Fan, Wei Shen, Xinyu Wang, Rubo Li, Lu Lu, Jie Wu, Kaihu Yao, Quan Wang, Suyun Qian, Dan Yu
{"title":"Advances in pediatric sepsis biomarkers - what have we learnt so far?","authors":"Wen Su, Miao Fan, Wei Shen, Xinyu Wang, Rubo Li, Lu Lu, Jie Wu, Kaihu Yao, Quan Wang, Suyun Qian, Dan Yu","doi":"10.1080/14737159.2025.2500656","DOIUrl":"https://doi.org/10.1080/14737159.2025.2500656","url":null,"abstract":"<p><strong>Introduction: </strong>Sepsis is a systemic immune dysregulation syndrome triggered by secondary infection in the host, with diagnosis based on the updated Phoenix criteria and characterized by multi-organ failure as its core pathological manifestation. It is a significant global health challenge due to its increasing incidence and high mortality rates. Recent advancements in biomarker research provide promising tools for improving early diagnosis and timely intervention, essential for better patient outcomes.</p><p><strong>Areas covered: </strong>This review examines the latest developments in pediatric sepsis biomarkers, categorized by inflammation, metabolism, organ damage, and non-coding RNAs (miRNAs, LncRNAs). We discuss the advancements in each category, highlighting the integration of diverse biomarkers and advanced technologies to enhance diagnostics, personalize therapy, and improve patient stratification.</p><p><strong>Expert opinion: </strong>Given the limited specificity and sensitivity of current markers like CRP and PCT, multicenter studies are crucial for validating new biomarkers and for developing comprehensive panel markers that combine multiple diagnostic indicators. It is also important to consider the variability in host responses to different pathogens when identifying biomarkers based on host-pathogen interactions. To advance personalized medicine, future research may prioritize the identification of specific diagnostic biomarkers for pediatric sepsis, tailored to different pathogens.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":"25 5","pages":"183-198"},"PeriodicalIF":3.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981132","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}