{"title":"Neurofilament light chain as a biomarker for neuronal injury in CNS infections.","authors":"Lars Hagberg, Henrik Zetterberg, Magnus Gisslén","doi":"10.1080/14737159.2025.2509023","DOIUrl":"10.1080/14737159.2025.2509023","url":null,"abstract":"<p><strong>Introduction: </strong>In this special report, we summarize studies of cerebrospinal fluid and plasma/serum biomarker neurofilament light chain (NfL) concentrations, a key structural component of myelinated axons in neuroinfections.</p><p><strong>Areas covered: </strong>The following infections were searched for in PubMed; Neuroinfection and biomarkers, herpes simplex encephalitis and neurofilament light chain, tick-borne encephalitis and neurofilament light chain, Lyme neuroborreliosis and neurofilament light chain, bacterial meningitis and neurofilament light chain, malaria and neurofilament light chain, COVID-19 and neurofilament light chain, HIV infection and neurofilament light chain.</p><p><strong>Expert opinion: </strong>NfL can serve as a valuable biomarker for assessing disease severity and neurological complications in the acute stage of neuroinfections and can also be useful in evaluating patients with residual symptoms following acute illness.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-6"},"PeriodicalIF":3.9,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110279","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}
Maria Francesca Beatino, Lorenzo Lattanzi, Camilla Elefante, Roberto Ceravolo, Filippo Baldacci, Giulio Perugi
{"title":"Mild behavioral impairment and neurodegeneration: time for a biomarker-based assessment.","authors":"Maria Francesca Beatino, Lorenzo Lattanzi, Camilla Elefante, Roberto Ceravolo, Filippo Baldacci, Giulio Perugi","doi":"10.1080/14737159.2025.2479627","DOIUrl":"10.1080/14737159.2025.2479627","url":null,"abstract":"","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"147-149"},"PeriodicalIF":3.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656673","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}
Matteo Rosellini, Elisa Tassinari, Linda Danielli, Andrea Marchetti, Costantino Ricci, Matteo Santoni, Veronica Mollica, Francesco Massari
{"title":"The value of molecular features in predicting efficacy of immuno-combinations in kidney cancer: just a drop in the ocean?","authors":"Matteo Rosellini, Elisa Tassinari, Linda Danielli, Andrea Marchetti, Costantino Ricci, Matteo Santoni, Veronica Mollica, Francesco Massari","doi":"10.1080/14737159.2025.2478996","DOIUrl":"10.1080/14737159.2025.2478996","url":null,"abstract":"","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"139-142"},"PeriodicalIF":3.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596487","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 biomarkers in multiple system atrophy.","authors":"Anastasia Bougea","doi":"10.1080/14737159.2025.2489729","DOIUrl":"10.1080/14737159.2025.2489729","url":null,"abstract":"<p><strong>Introduction: </strong>In order to improve illness identification, monitoring, and patient outcomes, this special report emphasizes the revolutionary potential of fluid and imaging biomarkers using new diagnostic technologies in Multiple system atrophy (MSA).</p><p><strong>Areas covered: </strong>Innovations like multiplex seeding aggregation assays (SAA), 18FDG-Positron Emission Tomography (PET), and SPECT) are changing the diagnostic landscape. These techniques make it easier to detect MSA early and offer noninvasive monitoring choices. Although neurofilament light chain measurements in blood and cerebrospinal fluid (CSF), as well as α-synuclein-based diagnostic biomarkers in CSF, are recognized as both diagnostic and surrogatemarkers of disease progression in MSA, their application in clinical practiceis limited to research. Some efforts are being made in the development ofselective α- synucleinPET tracers despite numerous barriers in visualizing intracellular localization of α-synuclein. The primary drawbacks include the high expense of SAA and imaging technologies, the paucity of multicenter longitudinal investigations, and the lack of uniformity of the prοtocols. The research highlights that to successfully solve these restrictions, stakeholders must continue to collaborate.</p><p><strong>Expert opinion: </strong>A multi-dimensional biomarker system of MSA patients maximizes the power of contemporary diagnostics to enhance MSA care by prioritizing the ongoing evaluation of multi-omics data.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"151-155"},"PeriodicalIF":3.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143778972","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":"Evolution and future of cervical cancer screening: from cytology to primary HPV testing and the impact of vaccination.","authors":"Mariam El-Zein, Eduardo L Franco","doi":"10.1080/14737159.2025.2486653","DOIUrl":"10.1080/14737159.2025.2486653","url":null,"abstract":"<p><strong>Introduction: </strong>Cervical cancer remains a significant global health challenge despite decades of progress in screening and prevention. Global cervical cancer screening practices vary substantially, with many countries still relying on cytology-based methods, despite evidence supporting the superior performance of human papillomavirus (HPV)-based screening.</p><p><strong>Areas covered: </strong>This review explores the historical evolution as well as current landscape and policies of cervical cancer screening, with a focus on Western countries. We discuss the gradual transition from cytology to HPV DNA testing as the primary screening method, while recognizing the continuing role of cytology as a triage method. We also argue that HPV vaccination will have a transformative impact on screening practices, necessitating the need for adapting screening strategies to a post-vaccination world.</p><p><strong>Expert opinion: </strong>The role of cytology in cervical cancer screening will become increasingly limited due to its diminished effectiveness post-HPV vaccination, as many abnormal cytology results will likely be false positives. This could lead to unnecessary procedures, underscoring the need for adjustments in screening strategies and HPV testing to align with the fact that cervical precancerous lesions will become exceedingly rare.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"157-164"},"PeriodicalIF":3.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742707","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":"Multi-omic profiling in breast cancer: utility for advancing diagnostics and clinical care.","authors":"Emna El Gazzah, Scott Parker, Mariaelena Pierobon","doi":"10.1080/14737159.2025.2482639","DOIUrl":"10.1080/14737159.2025.2482639","url":null,"abstract":"<p><strong>Introduction: </strong>Breast cancer remains a major global health challenge. While advances in precision oncology have contributed to improvements in patient outcomes and provided a deeper understanding of the biological mechanisms that drive the disease, historically, research and patients' allocation to treatment have heavily relied on single-omic approaches, analyzing individual molecular dimensions such as genomics, transcriptomics, or proteomics. While these have provided deep insights into breast cancer biology, they often fail to offer a complete understanding of the disease's complex molecular landscape.</p><p><strong>Areas covered: </strong>In this review, the authors explore the recent advancements in multi-omic research in the realm of breast cancer and use clinical data to show how multi-omic integration can offer a more holistic understanding of the molecular alterations and their functional consequences underlying breast cancer.</p><p><strong>Expert opinion: </strong>The overall developments in multi-omic research and AI are expected to complement precision diagnostics through potentially refining prognostic models, and treatment selection. Overcoming challenges such as cost, data complexity, and lack of standardization is crucial for unlocking the full potential of multi-omics and AI in breast cancer patient care to enable the advancement of personalized treatments and improve patient outcomes.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"165-181"},"PeriodicalIF":3.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795049","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}