Expert Review of Molecular Diagnostics最新文献

The 21-gene recurrence score assay as a tool for predicting recurrence risk and guiding adjuvant treatment selection in early breast cancer. 21基因复发评分法作为预测早期乳腺癌复发风险和指导辅助治疗选择的工具

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-09-01 Epub Date: 2026-08-05 DOI: 10.1080/14737159.2026.2709442

Carlos Martínez-Pérez, Giovanni Tramonti, Charlene Kay, Karen J Taylor, Alastair Ironside, Arran K Turnbull, Peter S Hall

{"title":"The 21-gene recurrence score assay as a tool for predicting recurrence risk and guiding adjuvant treatment selection in early breast cancer.","authors":"Carlos Martínez-Pérez, Giovanni Tramonti, Charlene Kay, Karen J Taylor, Alastair Ironside, Arran K Turnbull, Peter S Hall","doi":"10.1080/14737159.2026.2709442","DOIUrl":"10.1080/14737159.2026.2709442","url":null,"abstract":"Introduction: Estrogen receptor-positive (ER+), HER2-negative breast cancer is the most common breast cancer subtype. While adjuvant endocrine therapy reduces recurrence risk, identifying which patients benefit from the addition of chemotherapy remains a key clinical challenge. The Oncotype DX® 21-gene Recurrence Score assay (Exact Sciences, via Genomic Health, Inc.) was developed to address this by quantifying distant recurrence risk and informing chemotherapy decisions in early-stage ER+/HER2- disease.Areas covered: This diagnostic profile reviews the development, validation, and clinical evidence for Oncotype DX, including findings from the TAILORx and RxPONDER prospective trials and the subsequent development of hybrid tools integrating genomic and clinicopathological data. Alternative multiparameter molecular tests (MammaPrint, Prosigna, EndoPredict, Breast Cancer Index) are summarized and compared. We review international guideline recommendations, decision impact studies, cost-effectiveness evidence, and ongoing trials.Expert opinion: Oncotype DX has strong prognostic evidence and has meaningfully reduced chemotherapy use, though its case as a biomarker predictive of therapeutic effect from chemotherapy rests on trial designs with important limitations. Its independent prognostic contribution beyond comprehensive clinicopathological assessment requires further clarification, and cost-effectiveness varies substantially by indication and healthcare setting.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"723-732"},"PeriodicalIF":4.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148673121","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

Respiratory viral co-detection in the multiplex era: a critical perspective on diagnostic stewardship and anti-infective decision-making. 多重时代的呼吸道病毒共同检测：诊断管理和抗感染决策的关键观点。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-09-01 DOI: 10.1080/14737159.2026.2726945

Luis Adrián De Jesús-González, Flor Itzel Lira-Hernández, Alan Orlando Santos-Mena, Juan Carlos Borrego-Moreno

{"title":"Respiratory viral co-detection in the multiplex era: a critical perspective on diagnostic stewardship and anti-infective decision-making.","authors":"Luis Adrián De Jesús-González, Flor Itzel Lira-Hernández, Alan Orlando Santos-Mena, Juan Carlos Borrego-Moreno","doi":"10.1080/14737159.2026.2726945","DOIUrl":"https://doi.org/10.1080/14737159.2026.2726945","url":null,"abstract":"Introduction: Respiratory viral co-detection has become increasingly frequent with the widespread use of multiplex molecular panels. However, detecting two or more respiratory viruses in a single sample does not necessarily indicate active coinfection, etiologic equivalence, or the need to escalate antiviral or antibacterial therapy.Areas covered: This critical perspective examines respiratory viral co-detection as a diagnostic stewardship and anti-infective decision-making challenge. It proposes an interpretive framework that distinguishes molecular co-detection from probable coinfection, sequential infection, prolonged nucleic acid shedding, and clinically actionable co-detection. The article discusses how symptom timing, syndromic compatibility, local viral circulation, host vulnerability, and therapeutic availability should guide interpretation. It also addresses the limitations of Ct values as surrogate markers of viral burden, the potential contribution of host-response biomarkers, the influence of vaccination and immunoprophylaxis, and the implications of viral interactions for clinical reasoning and antiviral trial design.Expert opinion: Multiplex panels provide the greatest value when interpreted as tools for therapeutic prioritization, antibacterial stewardship, infection control, and risk stratification rather than as flat lists of equivalent etiologies. Future antiviral studies should incorporate co-detection as a prespecified modifier of clinical and treatment outcomes.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-17"},"PeriodicalIF":4.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148873054","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

Protein signatures for the early detection of endometrial cancer in cervico-vaginal fluid. 宫颈阴道液中早期检测子宫内膜癌的蛋白质特征。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-09-01 Epub Date: 2026-07-26 DOI: 10.1080/14737159.2026.2705465

Kelechi Njoku, Molly Dore, Jean-Ellen Johnson, Jennifer C Davies, Andrew Pierce, Davide Chiasserini, Ananya Choudhury, Anthony D Whetton, Richard Unwin, Emma J Davidson

{"title":"Protein signatures for the early detection of endometrial cancer in cervico-vaginal fluid.","authors":"Kelechi Njoku, Molly Dore, Jean-Ellen Johnson, Jennifer C Davies, Andrew Pierce, Davide Chiasserini, Ananya Choudhury, Anthony D Whetton, Richard Unwin, Emma J Davidson","doi":"10.1080/14737159.2026.2705465","DOIUrl":"10.1080/14737159.2026.2705465","url":null,"abstract":"Introduction: Endometrial cancer is the most common gynecological malignancy in high-income countries. Although postmenopausal bleeding is its cardinal presenting symptom, only 5-10% of women with postmenopausal bleeding have malignancy. There is therefore a need for accurate, minimally invasive diagnostic tests. Proteins detectable in proximal biofluids, particularly cervicovaginal fluid (CVF), represent promising biomarkers because they reflect the functional biology of the tumor and can be measured using clinically translatable immunoassays.Areas covered: This review critically evaluates the evidence for CVF protein biomarkers in the early detection of endometrial cancer. Three protein signatures show the greatest promise: a five-protein panel (HPT, LGALS3BP, FGA, LY6D, IGHM; AUC 0.95), a 12-protein inflammatory panel (AUC 0.91), and an 11-protein multivariate panel (AUC 0.92), all approaching or meeting thresholds for clinical consideration. We also discuss the biological relevance of these proteins and highlight the methodological, analytical and translational challenges that must be addressed before clinical implementation.Expert opinion: CVF provides a unique, minimally invasive sampling medium owing to the anatomical continuity between the uterine cavity and lower genital tract. While current evidence is encouraging, most candidate biomarkers remain exploratory and require rigorous validation in large, prospective multicentre studies before incorporation into routine clinical practice.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"739-753"},"PeriodicalIF":4.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148469752","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 normalized creatinine-to-cystatin C ratio and incident circadian syndrome in middle-aged and older adults: a national cohort study. 中老年人正常肌酐与胱抑素C比值与昼夜节律综合征的关系：一项国家队列研究

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-09-01 Epub Date: 2026-07-28 DOI: 10.1080/14737159.2026.2705464

Zhengyi Xia, Minghui Li, Ling Li

{"title":"The association between normalized creatinine-to-cystatin C ratio and incident circadian syndrome in middle-aged and older adults: a national cohort study.","authors":"Zhengyi Xia, Minghui Li, Ling Li","doi":"10.1080/14737159.2026.2705464","DOIUrl":"10.1080/14737159.2026.2705464","url":null,"abstract":"Background: Evidence on the association between the normalized creatinine-to-cystatin C ratio (NCCR) and Circadian Syndrome (CircS) in the general population remains scarce. This study aimed to investigate this relationship using data from middle-aged and elderly participants in the China Health and Retirement Longitudinal Study (CHARLS).Methods: We conducted a cross-sectional analysis of 5,981 participants (2011 wave) and a prospective cohort analysis of 2,053 participants (2015 wave, median follow-up 4.0 years). CircS was defined as a cluster including elevated blood pressure, dyslipidemia, hyperglycemia, abdominal obesity, depression, and abnormal sleep duration.Results: During follow-up, 552 participants developed incident CircS. A significant inverse association was observed: the risk of new-onset CircS progressively decreased with higher baseline NCCR levels. After adjusting for multiple confounders, each standard deviation increase in NCCR was associated with a 40% reduced odds of CircS (adjusted odds ratio = 0.60, 95% confidence interval: 0.48 to 0.75). Subgroup and dose-response analyses confirmed the robustness of this inverse relationship.Conclusions: In conclusion, a lower NCCR is independently associated with an elevated risk of developing CircS. These findings support NCCR's role as a practical serum indicator of sarcopenia and implicate muscle loss as a potentially key underlying pathway in the pathogenesis of Circadian Syndrome.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"775-782"},"PeriodicalIF":4.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148455210","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

Falling short? Mitigating equity gaps and demographic bias in AI-driven molecular diagnostics. 不足?缓解人工智能驱动的分子诊断中的公平差距和人口偏见。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-09-01 Epub Date: 2026-07-11 DOI: 10.1080/14737159.2026.2701359

Nils D Forkert

引用次数: 0

The expanding role of artificial intelligence in medical diagnosis: from molecular diagnostics and multi-omics to digital health and medical imaging. 人工智能在医学诊断中的作用日益扩大：从分子诊断和多组学到数字健康和医学成像。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-09-01 Epub Date: 2026-07-22 DOI: 10.1080/14737159.2026.2706000

Aghdas Ramezani, Marzieh Bagheri, Fatemeh Mahmoudian, Fahimeh Fattahi, Faezeh Noorabad Ghahroodi, Pourya Nasirmoghadas, Navid Pourzardosht, Bahman Khalesi, Zahra Sadat Hashemi, Saeed Khalili

{"title":"The expanding role of artificial intelligence in medical diagnosis: from molecular diagnostics and multi-omics to digital health and medical imaging.","authors":"Aghdas Ramezani, Marzieh Bagheri, Fatemeh Mahmoudian, Fahimeh Fattahi, Faezeh Noorabad Ghahroodi, Pourya Nasirmoghadas, Navid Pourzardosht, Bahman Khalesi, Zahra Sadat Hashemi, Saeed Khalili","doi":"10.1080/14737159.2026.2706000","DOIUrl":"10.1080/14737159.2026.2706000","url":null,"abstract":"Introduction: The use of Artificial Intelligence (AI), especially Machine learning (ML) and Deep learning (DL), has led to a major shift in medical diagnosis. AI can assist medical professionals in medical diagnosis by its unique ability to analyze complex data from multiple sources, including medical images, gene sequences, and Electronic Health Records (EHRs).Areas covered: Its application in other clinical processes, such as risk classification, diagnostic workflows, and disease risk prediction from patient symptoms, can also speed up diagnosis, reduce costs, and improve diagnostic outcomes.Expert opinion: However, its effective use in the clinic necessitates addressing concerns about data privacy, rigorous validation, and the development of methods to reduce bias caused by medical data. By addressing these limitations, AI can be very effective in increasing medical professionals' knowledge and, consequently, improving patient outcomes.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"755-774"},"PeriodicalIF":4.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148469743","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

What's in a name: the potential impact of the updated terminology of polyendocrine metabolic ovarian syndrome (PMOS). 名字的意义：多内分泌代谢性卵巢综合征（PMOS）最新术语的潜在影响。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-09-01 Epub Date: 2026-07-17 DOI: 10.1080/14737159.2026.2705467

Fernando M Reis, Izabelle G A Vidigal, José Luis Elizarraras, Fabio V Comim

{"title":"What's in a name: the potential impact of the updated terminology of polyendocrine metabolic ovarian syndrome (PMOS).","authors":"Fernando M Reis, Izabelle G A Vidigal, José Luis Elizarraras, Fabio V Comim","doi":"10.1080/14737159.2026.2705467","DOIUrl":"10.1080/14737159.2026.2705467","url":null,"abstract":"Introduction: Polycystic ovary syndrome (PCOS) was recently renamed polyendocrine metabolic ovarian syndrome (PMOS).Areas covered: We review the renaming process, the potential advantages, and the challenges associated with this global effort. A large consortium of experts and patient representatives debated whether renaming was justified, what principles should guide a new name, and how such a change could be implemented without disrupting clinical care, research, education, or patient communication. Surveys indicated that awareness of the broader features of the syndrome improved in the last years after dissemination strategies and patient advocacy initiatives, but important gaps remained, particularly around the risk of comorbidities.Expert opinion: New perspectives emerge with renaming PCOS into PMOS after a carefully planned effort to improve scientific accuracy, patient understanding, and clinical communication while minimizing confusion during implementation. The new terminology emphasizes the syndrome's endocrine and metabolic nature and removes the misleading reference to 'polycystic' ovaries. Similar to previous successful nomenclature updates in gynecology, this gradual transition aims to enhance education, interdisciplinary care, research, and long-term management, ultimately supporting more accurate diagnosis and improved patient outcomes.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"733-737"},"PeriodicalIF":4.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148445201","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

Small steps, quick wins: optimizing clinical diagnostic stewardship in the era of complex diagnostics. 小步快赢：在复杂诊断时代优化临床诊断管理。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-31 DOI: 10.1080/14737159.2026.2726949

Tristan T Timbrook

引用次数: 0

Idiopathic hirsutism as a normo-androgenic phenotype of polyendocrine metabolic ovarian syndrome: challenging a diagnostic dogma. 特发性多毛症作为多内分泌代谢性卵巢综合征的正常雄激素表型：挑战诊断教条。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-29 DOI: 10.1080/14737159.2026.2725658

Taieb Ach, Nadia Ghariani, Wiem Saafi, Imen Bannour, Badra Bannour

引用次数: 0

Salivary biomarkers as a non-invasive diagnostic tool for gastric cancer: a systematic review and meta-analysis. 唾液生物标志物作为胃癌非侵入性诊断工具：一项系统综述和荟萃分析。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-26 DOI: 10.1080/14737159.2026.2725657

Francisco Cezar Aquino de Moraes, Gustavo Tadeu Freitas Uchôa Matheus, Luis Henrique Rios Moreira Rego, Erick Nelo Pedreira, Elizabeth Suchi Chen, Rommel Mario Rodriguez Burbano

{"title":"Salivary biomarkers as a non-invasive diagnostic tool for gastric cancer: a systematic review and meta-analysis.","authors":"Francisco Cezar Aquino de Moraes, Gustavo Tadeu Freitas Uchôa Matheus, Luis Henrique Rios Moreira Rego, Erick Nelo Pedreira, Elizabeth Suchi Chen, Rommel Mario Rodriguez Burbano","doi":"10.1080/14737159.2026.2725657","DOIUrl":"https://doi.org/10.1080/14737159.2026.2725657","url":null,"abstract":"Background: Gastric cancer (GC) remains a leading cause of cancer-related mortality worldwide, with an average survival of just 12 months. Its aggressive nature and nonspecific symptoms often lead to late-stage diagnosis. Current diagnostic methods rely heavily on esophagogastroduodenoscopy, which is invasive and costly. Saliva-based biomarkers have emerged as a promising noninvasive approach for GC diagnosis, although their clinical applicability remains uncertain.Research design and methods: We performed a systematic search in PubMed, Scopus, and Web of Science to identify studies evaluating saliva-based diagnostics for GC. Pooled sensitivity and specificity were calculated with 95% confidence intervals using RStudio version 4.2.3.Results: Eleven studies involving 1,119 patients (760 with GC) were included. In the GC group 63.8% were male and biomarkers vary between studies. The pooled sensitivity was 86.3% (95% CI: 0.76-0.93; I2 = 82%), and specificity was 85.5% (95% CI: 0.79-0.91; I2 = 19%). The summary ROC curve had an AUC of 87.6%, with a normalized partial AUC of 67.2%.Conclusion: Salivary biomarkers show strong potential for noninvasive GC early detection. Which represents a significant opportunity to change the natural history of gastric cancer. However, due to significant variability in biomarkers utilized, more homogenous studies are needed to better address the question.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148826428","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