Expert Review of Molecular Diagnostics最新文献

Genomic Surveillance for Viruses of Public Health importance in Low-and-Middle-Income Countries: Opportunities and Challenges. 中低收入国家对公共卫生具有重要意义的病毒的基因组监测：机遇与挑战。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-01 Epub Date: 2025-09-21 DOI: 10.1080/14737159.2025.2543750

Ira Praharaj, Subhra Subhadra, Jyotsnamayee Sabat, Swagatika Panda, Sanghamitra Pati

引用次数: 0

Genetic profiling of upper tract urothelial carcinoma: A necessity for precision medicine. 上尿路上皮癌的基因谱分析：精密医学的必要条件。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-01 Epub Date: 2025-08-20 DOI: 10.1080/14737159.2025.2549834

Ali Amin, Fatemeh Khalatbari, Liang Cheng

{"title":"Genetic profiling of upper tract urothelial carcinoma: A necessity for precision medicine.","authors":"Ali Amin, Fatemeh Khalatbari, Liang Cheng","doi":"10.1080/14737159.2025.2549834","DOIUrl":"10.1080/14737159.2025.2549834","url":null,"abstract":"Introduction: The urothelium of the upper tract (renal pelvis and ureter) has morphological and functional similarities to the bladder. There are also morphological similarities between the urothelial carcinoma of the upper tract (UTUC) and the bladder (UCB). However, there are differences in the embryological origin, phenotype, disease course, and response to treatment between the upper tract and bladder urothelium and their corresponding malignancies. Comprehensive genomic studies can provide valuable information about the differences between UTUC and UCB, which have diagnostic and therapeutic implications.Areas covered: In this study, we have collected and compared the available literature on the next-generation sequencing (NGS) of the UTUC and compared it to UCB with a focus on the effect of genomic changes on the disease course and management. The review revealed the value of NGS in providing important information for diagnosis and management, which can result in more successful precision medicine.Expert opinion: Although there are shared gene alterations between UTUC and UCB, the presence of minor genomic variations between the two site differences in the genomic alterations can explain differences in disease course. An upfront knowledge of the molecular alterations in UTUC can provide valuable information for patient care.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"695-708"},"PeriodicalIF":3.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144872165","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

How mitochondrial DNA complicates pre-implantation genetic screening and management. 线粒体DNA如何使胚胎植入前的遗传筛查和管理复杂化。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-01 Epub Date: 2025-08-19 DOI: 10.1080/14737159.2025.2545967

Danyang Li, Joerg Patrick Burgstaller, Joanna Poulton

引用次数: 0

Technical aspects of loop-mediated isothermal amplification (LAMP) assay in cancer. 肿瘤中环介导等温扩增（LAMP）测定的技术方面。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-01 Epub Date: 2025-09-01 DOI: 10.1080/14737159.2025.2552820

Nika Asefi, Keivan Majidzadeh-A

{"title":"Technical aspects of loop-mediated isothermal amplification (LAMP) assay in cancer.","authors":"Nika Asefi, Keivan Majidzadeh-A","doi":"10.1080/14737159.2025.2552820","DOIUrl":"10.1080/14737159.2025.2552820","url":null,"abstract":"Introduction: Cancer is a significant health problem worldwide, emphasizing the need for new diagnostic techniques. Among various molecular techniques, loop-mediated isothermal amplification (LAMP) has gained growing interest due to its rapidity, sensitivity, and cost-effectiveness.Areas covered: This review discusses the use of LAMP to target genes as a biomarker for cancer detection. We performed an extensive literature search to identify relevant oncology studies on LAMP. We highlighted its working principles, advantages over conventional diagnostic methods, and potential limitations in clinical settings.Expert opinion: LAMP has been reported to be an effective molecular diagnostic technique with tremendous improvements in speed, sensitivity, and affordability. Its potential as a diagnostic tool for cancer detection can provide a viable alternative to conventional diagnostic methods, particularly in low-resource environments. However, challenges such as primer design complexity, possibility of false-positive signals, and standardization issues present hindrances to clinical application. Further research and development are required for further refinement and integration into routine diagnostics. Furthermore, integrating LAMP with other molecular technologies and new platforms may render it increasingly useful in the clinical setting. Continuing research in this field is important for establishing the overall efficacy of LAMP in oncology.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"681-694"},"PeriodicalIF":3.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144948088","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

hTERT rs2735940 polymorphism influences lung cancer risk and overall survival in lung cancer patients undergoing platinum-based doublet chemotherapy. hTERT rs2735940多态性影响铂类双重化疗肺癌患者的肺癌风险和总生存期

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-01 Epub Date: 2025-05-05 DOI: 10.1080/14737159.2025.2500657

Anjali Saini, Heena Kansal, Navneet Singh, Siddharth Sharma

{"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":"10.1080/14737159.2025.2500657","url":null,"abstract":"Background: 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.Research design and methods: 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.Results: Patients carrying homozygous mutant genotype (CC) for rs2735940 showed a significant association (0 R = 2.4, p = 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 (p = 0.0016). For TERT rs2735940, individuals with SCLC carrying the mutant genotype (CC) were significantly more likely to develop lung cancer (p = 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.Conclusion: 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.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"723-735"},"PeriodicalIF":3.6,"publicationDate":"2025-10-01","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}

引用次数: 0

Regulation of biomarker analysis: what can be translated in the clinic? 生物标志物分析的规范：什么可以在临床中翻译？

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-01 Epub Date: 2025-08-19 DOI: 10.1080/14737159.2025.2534962

Marios A Diamantopoulos, Michaela A Boti, Triantafyllia Sarri, Giannis Tounias, Despoina D Psychogyiou, Andreas Scorilas

{"title":"Regulation of biomarker analysis: what can be translated in the clinic?","authors":"Marios A Diamantopoulos, Michaela A Boti, Triantafyllia Sarri, Giannis Tounias, Despoina D Psychogyiou, Andreas Scorilas","doi":"10.1080/14737159.2025.2534962","DOIUrl":"10.1080/14737159.2025.2534962","url":null,"abstract":"Introduction: The introduction of biomarkers in precision medicine is heralding a new era of diagnostic power and personalized patient care. Biomarkers are critical tools for detecting various diseases, guiding treatment decisions, and predicting patient responses, thereby improving outcomes and reducing healthcare costs.Areas covered: This review examines the regulatory landscape governing biomarker development and utility, focusing on major frameworks established by well-known regulatory agencies. A broad literature review demonstrates how these frameworks extend from research to clinical application. Also, the review article presents the challenges in biomarker translation and valuable recommendations for overcoming these barriers, while it discusses the future trends in biomarker regulation, including the impact of artificial intelligence (AI) and multi-omics approaches in identification and validation of biomarkers.Expert opinion: One can conclude that future biomarker regulation will employ an adaptive regulatory framework, AI interventions, and high-throughput approaches. These innovations can transform clinical practices and improve patients' life. However, careful regulation, rigorous validation, overcoming technical - ethical challenges and the tightening quality controls of the routine labs remain essential for successful implementation in clinical practice. More global collaboration is needed among regulatory authorities, academia, industry stakeholders and bioanalytical laboratories.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"647-664"},"PeriodicalIF":3.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144788629","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 new perspective for the diagnosis of pancreatic cancer: based on the understanding of extracellular vesicle proteins. 胰腺癌诊断的新视角：基于对细胞外囊泡蛋白的认识。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-01 Epub Date: 2025-08-11 DOI: 10.1080/14737159.2025.2545968

Beihan Dong, Yaoyun Zhang, Tingyue Kang, Fujun Wang, Gang Su

{"title":"A new perspective for the diagnosis of pancreatic cancer: based on the understanding of extracellular vesicle proteins.","authors":"Beihan Dong, Yaoyun Zhang, Tingyue Kang, Fujun Wang, Gang Su","doi":"10.1080/14737159.2025.2545968","DOIUrl":"10.1080/14737159.2025.2545968","url":null,"abstract":"Introduction: Pancreatic cancer (PC) has an insidious onset, limited treatment, and a poor prognosis. Extracellular vesicles (EVs) play a crucial role as a bridge for tumor microenvironment (TME)communication in tumorigenesis and development, especially EV proteins reflect the specificity of tumors. EVs serve as readily available biomarkers, and characterization of their protein profiles is expected to be a noninvasive molecular marker to improve the early diagnosis of Pancreatic ductal adenocarcinoma (PDAC) as well as potential therapeutic targets.Areas covered: This review focuses on the mechanism by which all types of EV proteins are involved in PDAC. In addition, this review summarizes EV proteins as potential targets for the diagnosis and treatment of PDAC to fully understand the promise of EV proteins as liquid biopsies for PDAC.Expert opinion: EVs in the humoral circulation represent an important part of liquid biopsy detection. EV protein profiling can be used as a liquid biopsy tool to detect cancer and distinguish cancer types. EV proteins have the characteristics of high specificity and sensitivity, but in view of the heterogeneity of tumors, EVs can be used as effective carriers for multiple candidate marker panels, and gradually realize personalized medicine for automated detection in the future.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"665-680"},"PeriodicalIF":3.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144798569","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

Diagnosing, treating and monitoring the inflammatory endotype in osteoarthritis clinical trials. 骨关节炎临床试验中炎性内型的诊断、治疗和监测。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-01 Epub Date: 2025-08-25 DOI: 10.1080/14737159.2025.2550639

Christian S Thudium, Monica Toft Hannani, Jamie E Collins, Frank W Roemer, Virginia B Kraus, Asger R Bihlet, Morten A Karsdal, Anne-Christine Bay-Jensen

{"title":"Diagnosing, treating and monitoring the inflammatory endotype in osteoarthritis clinical trials.","authors":"Christian S Thudium, Monica Toft Hannani, Jamie E Collins, Frank W Roemer, Virginia B Kraus, Asger R Bihlet, Morten A Karsdal, Anne-Christine Bay-Jensen","doi":"10.1080/14737159.2025.2550639","DOIUrl":"10.1080/14737159.2025.2550639","url":null,"abstract":"Introduction: Osteoarthritis (OA) involves an inflammatory component, presenting as synovitis and systemic low-grade inflammation. Preliminary evidence suggests that anti-inflammatory treatments may offer symptomatic and structural benefits in OA. More targeted approaches have been proposed and tested, but the means of identifying the clinical and molecular characteristics of patients with an inflammatory subtype remains unclear. Emerging evidence suggests that subsets of OA patients with significant inflammatory features, such as elevated systemic and synovial cytokine levels (e.g. IL-1, TNF-α), imaging confirmed synovitis, or tissue remodeling biomarker signatures may respond more favorably to anti-inflammatory treatments.Areas covered: We provide a perspective on recent evidence supporting the existence of a clinically actionable inflammatory molecular endotype of OA. We integrate key advances from recent clinical studies, biomarker consortium datasets and imaging models, to outline potential tools for single-patient endotyping, and highlight practical considerations for recognizing an inflammatory endotype in the clinical trial setting.Expert opinion: Challenges remain in standardizing tools for identifying these patients. Current methodology, including imaging and soluble biomarkers, are not yet been widely adopted in clinical practice. An improved understanding of the inflammatory endotype will be key for improving clinical trial design and identifying patient subpopulations more likely to benefit from targeted treatment.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"709-722"},"PeriodicalIF":3.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144948153","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

Saliva liquid biopsy for detection of early-stage lesions. 唾液液体活检检测早期病变。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-01 Epub Date: 2025-09-08 DOI: 10.1080/14737159.2025.2552813

Irene Choi, Nathan Yoshida, Neeti Swarup, David T W Wong

引用次数: 0

Circulating tumor DNA and urinary tumor DNA: useful biomarkers for bladder cancer detection. 循环肿瘤DNA和尿液肿瘤DNA：膀胱癌检测的有用生物标志物。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-09-24 DOI: 10.1080/14737159.2025.2565273

Na Lin, Yutong Zhou, Yingying Li, Lingling Lin, Lingfeng Zhu, Jin Chen

{"title":"Circulating tumor DNA and urinary tumor DNA: useful biomarkers for bladder cancer detection.","authors":"Na Lin, Yutong Zhou, Yingying Li, Lingling Lin, Lingfeng Zhu, Jin Chen","doi":"10.1080/14737159.2025.2565273","DOIUrl":"10.1080/14737159.2025.2565273","url":null,"abstract":"Introduction: Bladder cancer (BC), a prevalent urinary system malignancy, presents challenges for early diagnosis because of its nonspecific symptoms and late-stage presentation, leading to poor prognosis. Liquid biopsy, particularly urine-based testing, has emerged as a promising noninvasive alternative to tissue biopsy for early cancer detection, monitoring, and treatment guidance. Urinary tumor DNA (utDNA) and circulating tumor DNA (ctDNA) are key biomarkers that offer direct, noninvasive access to urinary tract tumor genetic information.Areas covered: This review explores key dimensions of ctDNA and utDNA in BC, including BC epidemiology and current diagnostic limitations; cfDNA detection technologies; applications, advantages, and roles of ctDNA and utDNA in recurrence monitoring, treatment response assessment, and prognostic stratification; and ongoing clinical trials.Expert opinion: ctDNA and utDNA are transformative tools in BC management, offering real-time insights into tumor dynamics, treatment response, and prognosis. The short half-life of ctDNA enables rapid assessment of tumor burden changes, whereas the noninvasive collection of utDNA enhances patient compliance. Despite challenges such as low biomarker abundance in urine, heterogeneity, and standardization gaps, ongoing clinical trials have validated its clinical utility. Future integration of ctDNA/utDNA into clinical practice will enable personalized, noninvasive BC care, improving early diagnosis, treatment optimization, and patient outcomes.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-12"},"PeriodicalIF":3.6,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145124582","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