Expert Review of Molecular Diagnostics最新文献

Urinary biomarkers for immunotherapy response in urothelial carcinoma: current status and future outlook. 尿路上皮癌免疫治疗反应的尿液生物标志物：现状和未来展望。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-24 DOI: 10.1080/14737159.2025.2573459

Shota Inoue, Marcin Miszczyk, Agata Suleja, Akihiro Matsukawa, Keiichiro Miyajima, Alessandro Dematteis, Angelo Cormio, Navid Roessler, Ahmed R Alfarhan, Ichiro Tsuboi, Tatsushi Kawada, Satoshi Katayama, Takehiro Iwata, Kensuke Bekku, Pierre I Karakiewicz, Leonardo Oliveira Reis, Motoo Araki, Shahrokh F Shariat

{"title":"Urinary biomarkers for immunotherapy response in urothelial carcinoma: current status and future outlook.","authors":"Shota Inoue, Marcin Miszczyk, Agata Suleja, Akihiro Matsukawa, Keiichiro Miyajima, Alessandro Dematteis, Angelo Cormio, Navid Roessler, Ahmed R Alfarhan, Ichiro Tsuboi, Tatsushi Kawada, Satoshi Katayama, Takehiro Iwata, Kensuke Bekku, Pierre I Karakiewicz, Leonardo Oliveira Reis, Motoo Araki, Shahrokh F Shariat","doi":"10.1080/14737159.2025.2573459","DOIUrl":"10.1080/14737159.2025.2573459","url":null,"abstract":"Introduction: Immunotherapy treatments, such as intravesical Bacillus Calmette-Guérin (BCG) for non-muscle invasive bladder cancer (NMIBC) and systemic immune checkpoint inhibitors (ICIs) for all stages are central to the management of urothelial carcinoma (UC). Biomarkers that are prognostic or predictive and that help in monitoring these therapies are needed to guide and improve efficacy and tolerability. In this review, we evaluated the current landscape of urinary biomarkers for predicting response to immunotherapy (BCG and ICIs) in UC patients and their potential to guide personalized treatment strategies.Areas covered: This narrative review summarizes current evidence on urinary biomarkers for predicting responses to BCG and ICIs therapies in UC, based on a comprehensive search of PubMed literature.Expert opinion: Urinary biomarkers show significant potential for transforming UC immunotherapy by facilitating personalized treatment. Despite promising initial data for various analytes, large-scale validation and standardization must be addressed. We still need better, faster, easier, cheaper, reliable and valid urine-based biomarkers. Future research should focus on multiplex panels to enhance patient stratification and improve therapeutic outcomes and follow-up.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-7"},"PeriodicalIF":3.6,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145250596","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 evaluation of known predictive biomarkers for gastric cancer. 对胃癌已知预测生物标志物的评价。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-14 DOI: 10.1080/14737159.2025.2573461

Matilde Callegarin, Valentina Angerilli, Jessica Gasparello, Matteo Fassan

{"title":"An evaluation of known predictive biomarkers for gastric cancer.","authors":"Matilde Callegarin, Valentina Angerilli, Jessica Gasparello, Matteo Fassan","doi":"10.1080/14737159.2025.2573461","DOIUrl":"10.1080/14737159.2025.2573461","url":null,"abstract":"Introduction: Gastric cancer (GC) is the fifth most common malignancy worldwide and it is associated with a poor prognosis, with most cases diagnosed at an advanced stage. In the advanced/metastatic setting, targeted treatments are assuming an increasingly central role. To assess the eligibility to these agents it is essential the evaluation of predictive biomarkers.Areas covered: This review will provide an analysis of both established and novel predictive biomarkers for GC. Biomarkers currently adopted in clinical practice include HER2 overexpression/ERBB2 amplification, PD-L1 expression and MMR/MSI status, with CLDN18.2 expression as a recent addition. Other predictive biomarkers currently under evaluation include FGFR2b expression, EBV status, MET overexpression/MET amplification, EGFR amplification and VEGF/VEGFR status.Expert opinion: The increasing number of targeted therapies is revolutionizing the treatment landscape of advanced GC, but some critical challenges remain to be addressed. These include issues related to the amount of available tissue samples, spatial and temporal heterogeneity of biomarkers expression and interobserver variability, as well as issues in the identification of the most appropriate therapeutic strategy in the presence of overlapping biomarkers positivity. To address these problems, interdisciplinary collaboration between pathologists and clinicians is essential.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-21"},"PeriodicalIF":3.6,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145250519","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

Mutation profiling of chronic myeloproliferative neoplasms: improving clinical-molecular prognostic models. 慢性骨髓增生性肿瘤的突变谱：改进临床-分子预后模型。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-13 DOI: 10.1080/14737159.2025.2573466

Giuseppe G Loscocco, Naseema Gangat, Paola Guglielmelli, Alessandro M Vannucchi, Ayalew Tefferi

{"title":"Mutation profiling of chronic myeloproliferative neoplasms: improving clinical-molecular prognostic models.","authors":"Giuseppe G Loscocco, Naseema Gangat, Paola Guglielmelli, Alessandro M Vannucchi, Ayalew Tefferi","doi":"10.1080/14737159.2025.2573466","DOIUrl":"10.1080/14737159.2025.2573466","url":null,"abstract":"Introduction: Classic myeloproliferative neoplasms (MPN), comprising polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF), both primary and secondary to PV and ET, are clonal hematopoietic disorders characterized by abnormal proliferation of largely mature cells, commonly associated with JAK2, CALR, or MPL mutations. These mutations result in the constitutive activation of the JAK-STAT pathway. Furthermore, most patients - especially with MF - have additional mutations in genes associated with myeloid neoplasms, which encode proteins involved in chromatin modification, DNA methylation, mRNA splicing, transcriptional regulation, and oncogenesis.Area covered: This review details the molecular landscape of MPN and examines its impact on patient management. It also evaluates emerging artificial intelligence-based prognostic models, highlighting their advantages and limitations.Expert opinion: High throughput genomic characterization of MPN has identified clinically relevant driver and non-driver mutations. Driver mutations are crucial for diagnosis, monitoring post-transplantation, and treatment response in clinical trials and increasingly in routine practice. Mutation profiles, along with cytogenetic, histopathologic, and clinical data, are used to categorize patients by risk for thrombosis, survival, and progression to secondary leukemia. The identification of a molecular enhanced scoring system for secondary myelofibrosis and clinically relevant co-mutation patterns capable to predict specific outcomes are under investigation.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-18"},"PeriodicalIF":3.6,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145274160","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 promise of liquid biopsies in prostate cancer: a potential point-of-care modality for precision oncology. 前列腺癌液体活检的前景：精确肿瘤学的潜在护理方式。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-11 DOI: 10.1080/14737159.2025.2573464

Gayatri Asawa, Bhakti Basu, Sandip Basu

{"title":"The promise of liquid biopsies in prostate cancer: a potential point-of-care modality for precision oncology.","authors":"Gayatri Asawa, Bhakti Basu, Sandip Basu","doi":"10.1080/14737159.2025.2573464","DOIUrl":"10.1080/14737159.2025.2573464","url":null,"abstract":"Introduction: Blood-based liquid biopsies represent a transformative, minimally-invasive, and patient-friendly approach. Tumor-derived components in the bloodstream, are at the forefront of active research for diagnosis and prediction of prognosis. Early cancer detection and real-time monitoring of treatment effectiveness are the most relevant from the perspective of both the clinicians and the patients. A demand for noninvasive markers is ably powered by sustained advancements in high-throughput technologies such as Next Generation Sequencing and mass spectrometry, paired with artificial intelligence and machine learning, which are requisites in expanding the power of liquid biopsies through multi-analyte tests.Areas covered: In this review, we present the current developments in the domain of liquid biopsy for prostate cancer with specific examples of relevant blood-based biomarkers, FDA-approved tests, advanced methodologies that dominated the expansion of this field, and also discuss common challenges in incorporating these tests in routine clinical practice. Nonetheless, as validation data progressively accumulates, liquid biopsies could change our approach and overall experience with diagnosis, dynamic customized treatments, and overall prognosis in prostate cancer patients.Expert opinion: Through interdisciplinary collaborations, blood-based diagnostic markers will emerge as accurate surrogates for routine screening, treatment response prediction/evaluation, and prognosis prediction in prostate cancer patients in the future.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-16"},"PeriodicalIF":3.6,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145250566","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

Combining oral fluid aMMP-8, calprotectin, and CCAAs in dental panoramic radiography for periodontal disease and systemic disease risk assessment: a point-of-care diagnostic approach. 结合口腔液aMMP-8、钙保护蛋白和ccaa在牙周病和全身性疾病风险评估的牙科全景x线摄影中的应用：一种即时诊断方法。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-10-08 DOI: 10.1080/14737159.2025.2570245

Ismo T Räisänen, Miika Penttala, Vaibhav Sahni, Julie Toby Thomas, Andreas Grigoriadis, Dimitra Sakellari, Shipra Gupta, Pirjo Pärnänen, Tommi Pätilä, Timo Sorsa

{"title":"Combining oral fluid aMMP-8, calprotectin, and CCAAs in dental panoramic radiography for periodontal disease and systemic disease risk assessment: a point-of-care diagnostic approach.","authors":"Ismo T Räisänen, Miika Penttala, Vaibhav Sahni, Julie Toby Thomas, Andreas Grigoriadis, Dimitra Sakellari, Shipra Gupta, Pirjo Pärnänen, Tommi Pätilä, Timo Sorsa","doi":"10.1080/14737159.2025.2570245","DOIUrl":"10.1080/14737159.2025.2570245","url":null,"abstract":"Introduction: Calcifying carotid artery atheromas (CCAAs) identified on standard dental panoramic radiographs (DPRs) have been presented as potential disease markers for cardiovascular disease (CVD). CCAAs are further linked to several systemic disease processes (i.e. diabetes) that are also associated with periodontitis. The active matrix metalloproteinase-8 (aMMP-8) mouthrinse point-of-care-test has been extensively validated for periodontitis disease diagnostics. Calprotectin can inhibit matrix metalloproteinases and also exert significant anti-microbial activities. Recently, calprotectin has been suggested as a potential biomarker of endovascular inflammation.Areas covered: This special report considers a combination of mouthrinse aMMP-8 and calprotectin in periodontitis disease diagnostics at the dentist's office for simultaneously identifying patients at risk of diabetes and CVD reviewing recent PubMed indexed findings comparing disease diagnostics by aMMP-8 and calprotectin individually and combined.Expert opinion: Combining CCAA-DPRs analysis with oral fluid mouthrinse aMMP-8 and calprotectin lateral-flow immunoassays as point-of-care or chair-side tests, especially by polynomial algorithm-based machine learning technologies (including computer vision), can provide a modern, noninvasive, safe, and economical AI-based diagnostic tool. This tool can be utilized for online real-time screening of interlinked processes involving stroke, CVD, diabetes, and periodontal disease cascades. Accordingly, identified at-risk patients are then referred for necessary medical and dental interventions.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-5"},"PeriodicalIF":3.6,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231887","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

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