Expert Review of Molecular Diagnostics最新文献_第9页

Guarding the genome: strategies for off-target detection and minimization in CRISPR/Cas9 system. 保护基因组：CRISPR/Cas9系统中脱靶检测和最小化策略

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-12-01 Epub Date: 2025-11-18 DOI: 10.1080/14737159.2025.2581677

Malihe Lotfi, Zahra Farshchian Yazdi, Mohammad Reza Hashemi, Mohammad Reza Abbaszadegan, Samaneh Sharif

{"title":"Guarding the genome: strategies for off-target detection and minimization in CRISPR/Cas9 system.","authors":"Malihe Lotfi, Zahra Farshchian Yazdi, Mohammad Reza Hashemi, Mohammad Reza Abbaszadegan, Samaneh Sharif","doi":"10.1080/14737159.2025.2581677","DOIUrl":"10.1080/14737159.2025.2581677","url":null,"abstract":"Introduction: CRISPR-based genome editing has revolutionized molecular diagnostics and therapeutic applications, offering precise genetic modifications. However, off-target effects remain a significant challenge, potentially leading to unintended mutations and genomic instability. Addressing these concerns is crucial for ensuring the clinical safety and efficacy of CRISPR technologies.Areas covered: This review provides a comprehensive analysis of strategies for detecting and mitigating off-target effects in CRISPR genome editing. We discuss in silico, in vitro, and in vivo detection methods, highlighting their strengths and limitations. Additionally, we examine advancements in guide RNA (gRNA) engineering, improved Cas variants, optimized delivery systems, base and prime editing technologies, and anti-CRISPR proteins as key approaches to enhance genome-editing precision.Expert opinion: While significant progress has been made in off-target detection and mitigation, challenges remain in accurately assessing unintended genomic modifications in vivo and ensuring long-term safety in clinical applications. Future research should focus on developing high-fidelity CRISPR variants, refining computational prediction models, and integrating multi-modal detection systems. Advancing delivery mechanisms and regulatory strategies will be essential for translating CRISPR into safe and effective therapeutic interventions.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"883-902"},"PeriodicalIF":4.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145530412","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

Companion diagnostics and HER2-targeted antibody-drug conjugates. 伴随诊断和her2靶向抗体-药物偶联物。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-12-01 Epub Date: 2025-11-12 DOI: 10.1080/14737159.2025.2587617

Jan Trøst Jørgensen, Kristian Egebjerg

{"title":"Companion diagnostics and HER2-targeted antibody-drug conjugates.","authors":"Jan Trøst Jørgensen, Kristian Egebjerg","doi":"10.1080/14737159.2025.2587617","DOIUrl":"10.1080/14737159.2025.2587617","url":null,"abstract":"Introduction: HER2-targeted antibody-drug conjugates (ADCs) have shown promising outcomes in the treatment of patients with various HER2-expressing solid tumors. The efficacy of ADCs is influenced by several factors, such as the antibody properties, linker design, payload type and potency, drug-to-antibody ratio, and target antigen expression.Areas covered: This review specifically examines target antigen expression and the companion diagnostic (CDx) assays used to select patients for treatment with HER2-targeted ADCs. Pivotal clinical trials involving the two FDA-approved HER2-targeted ADCs, trastuzumab emtansine (T-DM1) and trastuzumab deruxtecan (T-DXd), were identified and assessed to determine whether they included data on efficacy outcomes associated with varying levels of HER2 expression. In addition, the clinical utility of the current FDA-approved HER2 CDx assays for selecting patients eligible for treatment with HER2-targeted ADCs is also discussed.Expert opinion: High HER2 expression (IHC 3+) markedly affects the efficacy of T-DM1 and T-DXd in various solid tumors. Current data suggest that IHC should be used as the primary CDx assay to select patients for treatment with HER2-targeted ADCs. This recommendation aligns with the mechanism of action of ADCs, wherein increased receptor density facilitates receptor-mediated endocytosis of the drug molecules.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"869-881"},"PeriodicalIF":4.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145458092","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

Development and validation of a nomogram for the prediction of metabolic syndrome in polycystic ovary syndrome in a Chinese population. 中国人群多囊卵巢综合征代谢综合征nomogram预测与验证

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-12-01 Epub Date: 2025-10-25 DOI: 10.1080/14737159.2025.2579046

Jinglu Yu, Zimeng Pan, Miao Sun, Yan Li, Ying Wang, Fangyun Gu, Xiaoling Feng, Hongying Kuang, Lihui Hou

{"title":"Development and validation of a nomogram for the prediction of metabolic syndrome in polycystic ovary syndrome in a Chinese population.","authors":"Jinglu Yu, Zimeng Pan, Miao Sun, Yan Li, Ying Wang, Fangyun Gu, Xiaoling Feng, Hongying Kuang, Lihui Hou","doi":"10.1080/14737159.2025.2579046","DOIUrl":"10.1080/14737159.2025.2579046","url":null,"abstract":"Purpose: To construct a nomogram for predicting metabolic syndrome (MetS) in women with polycystic ovary syndrome.Methods: In this retrospective study, we analyzed clinical and biochemical data from 859 Chinese women diagnosed with PCOS. Univariable logistic regression and forward stepwise logistic regression were employed to identify independent predictors of MetS. A predictive nomogram was developed that integrates age, acne status, body mass index (BMI), fasting insulin levels (FINS), and the ApoB/ApoA ratio. The model's discriminative performance, calibration accuracy, and clinical utility were assessed using the area under the receiver operating characteristic curve (AUC), calibration curves accompanied by Brier scores, Hosmer - Lemeshow tests, decision curve analysis (DCA), and clinical impact curves (CIC). Internal validation was conducted through bootstrap resampling over 1,000 iterations.Results: The nomogram exhibited strong discriminative capability with an AUC of 0.874 (95% CI: 0.850-0.899), surpassing BMI alone which had an AUC of 0.824 (p < 0.0001). Both the calibration curve and Hosmer - Lemeshow test indicated satisfactory model fit. DCA and CIC analyses suggested that the nomogram could provide net clinical benefits for risk stratification among PCOS patients.Conclusions: The proposed nomogram accurately predicts MetS risk in PCOS patients, supporting early identification and individualized management.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"985-993"},"PeriodicalIF":4.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145370218","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

ESR1 ctDNA testing: literature review and comparison of assays for ESR1 mutation detection in advanced hormone receptor-positive breast cancer. ESR1 ctDNA检测：晚期激素受体阳性乳腺癌中ESR1突变检测的文献回顾和比较

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-12-01 Epub Date: 2025-11-06 DOI: 10.1080/14737159.2025.2576021

Alexander Yarunin, Hanna Ahlgren, Moumita Chaki, Christopher Morrow, Xiaodun Li, John Longshore

{"title":"ESR1 ctDNA testing: literature review and comparison of assays for ESR1 mutation detection in advanced hormone receptor-positive breast cancer.","authors":"Alexander Yarunin, Hanna Ahlgren, Moumita Chaki, Christopher Morrow, Xiaodun Li, John Longshore","doi":"10.1080/14737159.2025.2576021","DOIUrl":"10.1080/14737159.2025.2576021","url":null,"abstract":"Introduction: Aromatase inhibitors (AI) plus CDK4/6 inhibitors are the current first-line standard-of-care for hormone receptor (HR)-positive/HER2-negative advanced breast cancer (ABC). However, mutations in ESR1 (ESR1m), the gene encoding the estrogen receptor, can drive resistance to AI; their detection in circulating tumor DNA from liquid biopsies may be used to guide treatment.Areas covered: A literature search was performed using PubMed and Pharmaspectra to evaluate the current ESR1m testing landscape and compare analytical performance of commercially available ESR1m assays. Twenty-eight publications and ten congress abstracts detailing assays for ESR1m detection in liquid biopsies were identified. These included four quantitative polymerase chain reaction (qPCR) ESR1m assays, four digital PCR (dPCR) ESR1m assays, and twelve next-generation sequencing (NGS)-based assays that all varied by ESR1m coverage, sensitivity, and specificity.Expert opinion: A range of commercial assays are available for ESR1m detection in liquid biopsies from patients with HR-positive/HER2-negative ABC, and more are in development, with increasing clinical demand. qPCR, dPCR, and NGS assays can detect common ESR1m with differing sensitivity and specificity depending on the assay and amount of input DNA. Assay selection will vary depending on analytical performance, turnaround times, lab infrastructure and expertise, healthcare setting, and regional variation in market costs.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"903-914"},"PeriodicalIF":4.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145437723","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

Liquid biopsy in meningioma: a meta-analysis of diagnostic accuracy across fluid-based biomarkers. 脑膜瘤液体活检：基于液体的生物标志物诊断准确性的荟萃分析

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-12-01 Epub Date: 2025-11-28 DOI: 10.1080/14737159.2025.2595698

Yasminn Meireles, Carlos Pilotto Heming, Veronica Aran

{"title":"Liquid biopsy in meningioma: a meta-analysis of diagnostic accuracy across fluid-based biomarkers.","authors":"Yasminn Meireles, Carlos Pilotto Heming, Veronica Aran","doi":"10.1080/14737159.2025.2595698","DOIUrl":"10.1080/14737159.2025.2595698","url":null,"abstract":"Background: This systematic review and meta-analysis of diagnostic test accuracy evaluated the performance of noninvasive liquid biopsy methods for diagnosis of meningioma, the most common primary intracranial neoplasm in adults.Research design and methods: Following PRISMA-DTA guidelines, we searched three databases. Data for 2 × 2 contingency tables were extracted, methodological quality was assessed using QUADAS-2, and a bivariate meta-analysis was performed.Results: A total of 23 studies with 27 datasets were included. Pooled sensitivity was 0.78 (95% CI: 0.71 - 0.83) and specificity was 0.82 (95% CI: 0.76 - 0.86), with an area under the curve (AUC) of 0.86. Subgroup analysis showed that seroreactivity assays had the highest accuracy (diagnostic odds ratio or DOR = 67), while emerging technologies like cfDNA methylation showed high potential but were supported by limited data. The evidence was limited by significant publication bias (Deeks' test, p < 0.001), and meta-regression revealed that studies with a lower risk of bias reported significantly lower specificity (p = 0.008).Conclusions: Fluid-based biomarkers show good overall accuracy for meningioma diagnosis, but the current evidence is compromised by methodological bias, suggesting that true performance is more modest than reported. Rigorous, prospective validation of promising approaches like cfDNA methylation and seroreactivity is essential to clarify their clinical utility.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"969-983"},"PeriodicalIF":4.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145585967","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

Exploring non-sputum biosignatures for tuberculosis triage and diagnosis in children living with HIV. 探索艾滋病毒感染儿童结核病分诊和诊断的非痰生物特征。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-12-01 Epub Date: 2025-12-02 DOI: 10.1080/14737159.2025.2595573

Peter J Kitonsa, Devan Jaganath

{"title":"Exploring non-sputum biosignatures for tuberculosis triage and diagnosis in children living with HIV.","authors":"Peter J Kitonsa, Devan Jaganath","doi":"10.1080/14737159.2025.2595573","DOIUrl":"10.1080/14737159.2025.2595573","url":null,"abstract":"Introduction: Pediatric tuberculosis (TB), especially among children co-infected with HIV, remains a significant global health challenge. Traditional sputum-based diagnostics are less effective in this population due to difficulties in sample collection and paucibacillary disease, necessitating alternative non-sputum diagnostic approaches.Areas covered: This review examines recent advances in non-sputum biosignatures for pediatric TB diagnosis, including host- and pathogen-based biomarkers detectable in blood, urine, stool and breath.Expert opinion: Despite rapid advances in TB biosignature discovery, translation into usable diagnostics lags behind - especially for children and those with HIV. Studies often exclude these key populations, lack diverse validation, and depend on complex laboratory platforms. Bridging this gap requires early integration of feasibility, usability, and health system factors into product development. Multimodal, point-of-care tools adapted for low-resource settings and inclusive of high-risk children are essential. Implementation science and technology adaptation are critical to ensure real-world impact of these promising innovations.To summarize, non-sputum biosignatures offer an opportunity for early diagnosis of TB in children with HIV. However, these signatures need to be validated and be translated into affordable point-of-care tools that can be integrated with current diagnostic approaches and implemented in low resource settings.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"929-938"},"PeriodicalIF":4.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078082/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145585879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Breathomics: a non-invasive approach for the diagnosis of liver disease. 呼吸组学：一种无创肝病诊断方法。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-12-01 Epub Date: 2025-10-29 DOI: 10.1080/14737159.2025.2581697

R Sinha, J A Fallowfield

引用次数: 0

Digital pathology and AI: enhancing molecular diagnostics in low- and middle-income countries. 数字病理学和人工智能：加强低收入和中等收入国家的分子诊断。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-12-01 Epub Date: 2025-11-02 DOI: 10.1080/14737159.2025.2581687

Arman Rahman, Chee Leong Cheng, Reza Salim, Henry Goh Di Shen, William M Gallagher, Jabed Iqbal

{"title":"Digital pathology and AI: enhancing molecular diagnostics in low- and middle-income countries.","authors":"Arman Rahman, Chee Leong Cheng, Reza Salim, Henry Goh Di Shen, William M Gallagher, Jabed Iqbal","doi":"10.1080/14737159.2025.2581687","DOIUrl":"10.1080/14737159.2025.2581687","url":null,"abstract":"Introduction: Molecular diagnostics in Low- and Middle-Income Countries (LMICs) face significant barriers: limited expertise, geographical access, and infrastructure. These impede effective disease management and public health. Traditional workflows lack scalability and objectivity.Areas covered: This review explores how Digital Pathology (DP) and Artificial Intelligence (AI) can enhance LMIC molecular diagnostics. DP, via whole slide imaging, enables remote expert consultation and quality control. AI integration automates quantitative analysis (e.g. cell counting, biomarker scoring), facilitating rapid interpretation and extending specialized diagnostic reach. We discuss successful telepathology pilots and their cost-effectiveness. The manuscript highlights DP/AI's capacity to bolster molecular screening and accelerate research, while addressing implementation barriers: infrastructure, cost, training, and regulation.Expert opinion: Strategic integration of Digital Pathology (DP) and Artificial Intelligence (AI) offers an unparalleled opportunity to transform molecular diagnostics in LMICs. By providing scalable, objective, and accessible capabilities, these technologies can significantly improve public health outcomes and medical research. However, successful adoption demands targeted investment in digital infrastructure, capacity building, robust ethics, and public-private partnerships. Prioritizing direct clinical utility and molecular diagnostic applications is key to sustainable implementation and equitable access to advanced diagnostics.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"859-867"},"PeriodicalIF":4.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145376571","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 thrombophilia: the case for genetic or functional testing? 诊断血栓：基因检测还是功能检测？

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-12-01 Epub Date: 2025-11-12 DOI: 10.1080/14737159.2025.2588621

Emmanuel J Favaloro, Gary W Moore, Leonardo Pasalic

引用次数: 0

Role of oral microbiome in modulating immune response in oral cancer development. a systematic review. 口腔微生物组在口腔癌发展中调节免疫反应的作用。系统回顾。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-12-01 Epub Date: 2025-12-04 DOI: 10.1080/14737159.2025.2599227

Rezhat Abbas, Nazifa Javaid

{"title":"Role of oral microbiome in modulating immune response in oral cancer development. a systematic review.","authors":"Rezhat Abbas, Nazifa Javaid","doi":"10.1080/14737159.2025.2599227","DOIUrl":"10.1080/14737159.2025.2599227","url":null,"abstract":"Background: Oral squamous cell carcinoma, the most common head and neck cancer, is characterized by aggressive invasion, frequent lymph node metastasis, and high recurrence.Objective: This review explores the role of microbial dysbiosis in shaping the immune landscape of oral squamous cell carcinoma. It aims to identify key microbial taxa altered in Oral squamous cell carcinoma, examine the immunological pathways they influence, and assess their impact on tumor progression and immune evasion.Methods: A comprehensive literature search was conducted across three major databases: PubMed, Scopus, and Embase. A total of 300 records were initially identified (PubMed: n = 68; Scopus: n = 63; Embase: n = 169). After screening and eligibility assessment, 17 studies meeting inclusion criteria were selected for final analysis.Results: Fusobacterium was the most frequently enriched genus in Oral squamous cell carcinoma, followed by Peptostreptococcus, Prevotella, Porphyromonas, Campylobacter, Treponema, Capnocytophaga, and Dialister. Streptococcus was the most consistently depleted, along with Rothia, Veillonella, Leptotrichia, Capnocytophaga, and Neisseria.Conclusion: Cancer remains a leading cause of death. Oral microbial dysbiosis, with loss of beneficial species and enrichment of pathogens, has been linked to oral cancer, but its mechanistic role remains hypothetical and requires validation.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"957-968"},"PeriodicalIF":4.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145654010","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