Expert Review of Molecular Diagnostics最新文献_第6页

Evaluating emerging molecular diagnostics for severe infections in neutropenic patients with hematological malignancies. 评估中性粒细胞减少患者伴恶性血液病严重感染的新兴分子诊断。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-04-01 Epub Date: 2026-05-15 DOI: 10.1080/14737159.2026.2667917

Mariana Pitombeira Liborio, Anna Maria Peri, Patrick N A Harris

{"title":"Evaluating emerging molecular diagnostics for severe infections in neutropenic patients with hematological malignancies.","authors":"Mariana Pitombeira Liborio, Anna Maria Peri, Patrick N A Harris","doi":"10.1080/14737159.2026.2667917","DOIUrl":"10.1080/14737159.2026.2667917","url":null,"abstract":"Introduction: Neutropenia significantly increases infection risk in hematologic malignancies. Clinical signs are often subtle and fever may be the only indicator. Molecular diagnostic methods promise faster, more sensitive pathogen detection compared to conventional methods, aiming to improve timely and appropriate therapy.Areas covered: This review summarizes emerging molecular diagnostics for severe infections in neutropenic hematological malignancies, focusing on microbiological performance and, where available, clinical impact. We conducted a search in PubMed and Embase using subject headings: 'molecular diagnosis,' 'neutropenic,' 'infections,' 'hematological malignancies,' supplemented by information from manufacturers of commercial assays. The technologies reviewed include multiplex polymerase chain reaction, microarray-based assays, metagenomic and targeted next-generation sequencing, host transcriptomics, and methods for diagnosing invasive fungal infections. For each, we describe key characteristics, diagnostic performance, and clinical utility when reported.Expert opinion: Emerging molecular diagnostics shorten time to pathogen and resistance identification and broaden detection of organisms in febrile neutropenic patients with hematological malignancies. These methods are best integrated as complements to culture-based methods within centers with antimicrobial stewardship programs, where they inform earlier targeted therapy and rational de-escalation. Priority actions include prospective trials powered for measuring clinical outcomes and economic endpoints, with standardized workflows, reporting, and quality assurance to enable clinical implementation.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"345-361"},"PeriodicalIF":4.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147866736","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

AI and the digital pathology revolution: clinical applications in cancer diagnosis and assessment. 人工智能和数字病理学革命：癌症诊断和评估的临床应用。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-04-01 Epub Date: 2026-05-04 DOI: 10.1080/14737159.2026.2665801

Somnath Paul, H Michael Isaacs, Richard J Cote

{"title":"AI and the digital pathology revolution: clinical applications in cancer diagnosis and assessment.","authors":"Somnath Paul, H Michael Isaacs, Richard J Cote","doi":"10.1080/14737159.2026.2665801","DOIUrl":"10.1080/14737159.2026.2665801","url":null,"abstract":"Introduction: Hematoxylin & Eosin (H&E) stained slides are the gold standard for cancer diagnosis but are subject to labor-intensive review and inter-observer variability. Whole-slide imaging (WSI) and digital pathology are reshaping this landscape, enabling remote diagnosis, quantitative analysis, and integration with clinical and molecular data for precision medicine. The complexity of cancer diagnosis highlights the need for sophisticated analytical tools capable of extracting multidimensional information from tissue sections.Areas covered: Technological and computational advances driving the integration of artificial intelligence (AI) and digital pathology including; the transition from classical machine-learning to deep learning models that learn hierarchical representations from raw WSIs; convolutional neural networks, transformers and foundational computational pathology models; tasks such as biomarker prediction and prognostic modeling; emerging research on multimodal AI systems that are integrating histology images with text data to improve clinical relevance; challenges related to data sharing and privacy, generalizability, and the implementation of these approaches in real-world clinical settings.Expert opinion: Digital pathology and AI are transforming cancer diagnosis and evaluation. We expect that AI will be increasingly embedded in routine pathology practice to enhance diagnostic accuracy, improve efficiency, advance biological discovery, and perform tasks out of reach of conventional microscopy, thus advancing precision oncology.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"277-292"},"PeriodicalIF":4.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13256320/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147812364","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

Association between the uric acid-to-HDL-cholesterol ratio and diabetic kidney disease in individuals with type 2 diabetes and NAFLD: evidence from NHANES and an external hospital cohort. 2型糖尿病和NAFLD患者尿酸与高密度脂蛋白胆固醇比值与糖尿病肾病之间的关系：来自NHANES和外部验证队列的证据

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-04-01 Epub Date: 2026-04-23 DOI: 10.1080/14737159.2026.2663523

Zhaoxin Gong, Dingding Zhang, Nan Cai, Ping Wang

{"title":"Association between the uric acid-to-HDL-cholesterol ratio and diabetic kidney disease in individuals with type 2 diabetes and NAFLD: evidence from NHANES and an external hospital cohort.","authors":"Zhaoxin Gong, Dingding Zhang, Nan Cai, Ping Wang","doi":"10.1080/14737159.2026.2663523","DOIUrl":"10.1080/14737159.2026.2663523","url":null,"abstract":"Background: Diabetic kidney disease (DKD) is a major microvascular complication of type 2 diabetes mellitus (T2DM). Nonalcoholic fatty liver disease (NAFLD) frequently coexists with T2DM and may increase metabolic and renal vulnerability. The uric acid-to-high-density lipoprotein cholesterol ratio (UHR) is a composite metabolic marker, but its association with DKD in T2DM with NAFLD remains unclear.Research design and methods: We analyzed 797 adults with T2DM and CAP-defined NAFLD from NHANES 2017-2018 and 202 hospitalized adults with ultrasound-confirmed NAFLD. Kidney outcome was defined as eGFR <60 mL/min/1.73 m² in NHANES and as eGFR <60 mL/min/1.73 m² and/or albuminuria/proteinuria in the hospital cohort. Multivariable logistic regression and restricted cubic spline models were used.Results: Higher UHR was independently associated with higher odds of kidney outcome in NHANES (OR=1.31, 95% CI: 1.19-1.46, p<0.001) and in the hospital cohort (OR=1.30, 95% CI: 1.13-1.50, p<0.001). Highest vs lowest quartile showed higher odds (NHANES: OR=7.93; hospital cohort: OR=4.03). RCS suggested an approximately linear association.Conclusions: Higher UHR was associated with higher odds of DKD in T2DM with NAFLD. Findings should be interpreted cautiously and confirmed in prospective studies.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"363-371"},"PeriodicalIF":4.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147728504","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

Advances in molecular diagnostic strategies during the SARS-CoV-2 pandemic. SARS-CoV-2大流行期间分子诊断策略的进展

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-04-01 Epub Date: 2026-04-28 DOI: 10.1080/14737159.2026.2665263

Sushil Kumar Shukla, Amit Singh, Ramakant Yadav, Arbind Kumar

{"title":"Advances in molecular diagnostic strategies during the SARS-CoV-2 pandemic.","authors":"Sushil Kumar Shukla, Amit Singh, Ramakant Yadav, Arbind Kumar","doi":"10.1080/14737159.2026.2665263","DOIUrl":"10.1080/14737159.2026.2665263","url":null,"abstract":"Introduction: The SARS-CoV-2 pandemic provided critical insights into pandemic preparedness. The community spread can be slowed down or contained through effective, rapid, and robust diagnosis of infected individuals.Area covered: During the pandemic, substantial advances were made in developing rapid and cost-effective diagnostic approaches. Self-collected gargle samples offer clear advantages over conventional NSP/OPS methods by reducing reliance on trained personnel and personal protective equipment. Colorimetric assays further improve accessibility, enabling rapid, instrument-free, and visually interpretable detection at low cost. CRISPR-based diagnostics present a promising alternative to RT-PCR, facilitating scalable mass screening with reduced technical dependence. Concurrently, optimization of RT-PCR workflows-particularly through minimization of pre-PCR steps-can enhance speed and affordability. The integration of digital technologies and artificial intelligence further leverages diagnostic capabilities. Despite this, improved regulatory frameworks and resilient supply chains are critical for ensuring scalable, equitable access, and effective pandemic preparedness.Expert opinion: Global efforts were made to develop sensitive, rapid, cost-effective, and noninvasive technologies to identify the pandemic virus; however, variations in sensitivity/specificity and limited sample size validation hampered their utility in routine diagnostics. The COVID-19 pandemic has ended, but global efforts are still needed to combat the early infection of subsequent waves or similar disease waves.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"293-308"},"PeriodicalIF":4.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766683","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

Bio-interfaces-based detection of gastric carcinogenic bacterium Helicobacter pylori: enabling early and high precision diagnosis. 基于生物界面的胃癌幽门螺杆菌检测：实现早期和高精度诊断。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-04-01 Epub Date: 2026-05-07 DOI: 10.1080/14737159.2026.2665802

Akshita Singla, Utkarsh Jain, Nidhi Chauhan

{"title":"Bio-interfaces-based detection of gastric carcinogenic bacterium Helicobacter pylori: enabling early and high precision diagnosis.","authors":"Akshita Singla, Utkarsh Jain, Nidhi Chauhan","doi":"10.1080/14737159.2026.2665802","DOIUrl":"10.1080/14737159.2026.2665802","url":null,"abstract":"Introduction: Helicobacter pylori (H. pylori) infection is widespread globally, affecting more than half of the world's population. However, traditional detection methods, which have been used for decades, have several limitations, such as invasiveness and the requirement for endoscopy to acquire biopsy samples. Given the severity and complexity of the diseases caused by H. pylori, biosensors provide a practical solution for H. pylori detection, offering a valuable approach to simple, accurate, rapid, and highly specific identification of stomach cancer in its early stages.Areas covered: This review paper provides a comprehensive overview of various biosensors categorized into distinct sections based on their classification. Different electrochemical sensors, aptamer-based, optical, whole-cell, enzyme-based, and immunosensors that have already been developed for the detection of various biomarkers of H. pylori are summarized.Expert opinion: Future research should focus on developing more reliable, easier, cost-effective, and valid H. pylori biomarker-based biosensors to enhance diagnostics and therapeutic outcomes. There is also a need to commercialize these biosensors, enabling individuals to detect disease themselves at home or facilitating real-time detection. The successful translation of these biosensors from laboratory settings to commercial use necessitates a series of defined steps, which warrant immediate prioritization.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"325-343"},"PeriodicalIF":4.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147812423","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

Beyond mutations: epigenetic and fragmentomic landscapes of cfDNA in lung cancer. 超越突变：肺癌中cfDNA的表观遗传和片段组学景观。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-04-01 Epub Date: 2026-04-28 DOI: 10.1080/14737159.2026.2665256

Jing Liu, Laura S E Schulz, Qing Zhou

{"title":"Beyond mutations: epigenetic and fragmentomic landscapes of cfDNA in lung cancer.","authors":"Jing Liu, Laura S E Schulz, Qing Zhou","doi":"10.1080/14737159.2026.2665256","DOIUrl":"10.1080/14737159.2026.2665256","url":null,"abstract":"Introduction: Lung cancer is the most frequently diagnosed cancer worldwide and the leading cause of cancer-related mortality. Cell-free DNA (cfDNA) has emerged as a powerful biomarker in cancer detection. Early diagnostics efforts often leverage cancer-associated mutations present in cfDNA, but beyond such mutation-based assays, recent advances have shed light on other non-mutational features. The analysis of cfDNA epigenetic profiles and fragmentation patterns, known as 'fragmentomics,' has revealed a wealth of data to explore in noninvasive lung cancer diagnosis.Areas covered: This review will explore this new narrative, summarizing the current understanding and use of cfDNA epigenetic modifications and fragmentomic patterns, while integrating findings to illustrate their vast potential in early-stage detection and therapeutics. By considering a range of epigenetic and fragmentomic features, cfDNA methylation (5mC, 5hmC), histone modifications, size profiles, and end signatures, this review highlights how the multidimensional integration of such signals shows promise in refining early-stage lung cancer and guiding therapeutic decisions.Expert opinion: cfDNA epigenetic and fragmentomic analyses represent a transformative frontier in lung cancer diagnostics and monitoring. While these approaches demonstrate significant potential, most studies are limited by modest cohort sizes and reports of survival benefits, underscoring the need for large-scale validation and deeper mechanistic understanding.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"309-323"},"PeriodicalIF":4.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766721","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

Clinical utility of blood-based biomarkers in pregnant women with inflammatory bowel disease. 血液生物标志物在炎症性肠病孕妇中的临床应用

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-03-01 Epub Date: 2026-04-24 DOI: 10.1080/14737159.2026.2661745

Hannah J Holstein, Dianne G Bouwknegt, Sanne J Gordijn, Gerard Dijkstra, Astrid E P Cantineau, Paola Mian, Harry van Goor, Marijn C Visschedijk, Arno R Bourgonje

{"title":"Clinical utility of blood-based biomarkers in pregnant women with inflammatory bowel disease.","authors":"Hannah J Holstein, Dianne G Bouwknegt, Sanne J Gordijn, Gerard Dijkstra, Astrid E P Cantineau, Paola Mian, Harry van Goor, Marijn C Visschedijk, Arno R Bourgonje","doi":"10.1080/14737159.2026.2661745","DOIUrl":"10.1080/14737159.2026.2661745","url":null,"abstract":"Introduction: Pregnancy in women with inflammatory bowel disease (IBD) is common, and active disease remains a key driver of adverse maternal and fetal outcomes. Maintaining remission throughout pregnancy is therefore essential, however clinicians lack reliable, minimally invasive tools to monitor disease activity and stratify pregnancy-related risk.Areas covered: This expert review critically addresses the current evidence on blood-based biomarkers for pregnancy in women with IBD. We discuss the impact of maternal disease activity on pregnancy outcomes, the bidirectional relationship between pregnancy and IBD disease course, and the potential contribution of placental dysfunction and oxidative stress to adverse outcomes. Established and emerging biomarkers, including fecal calprotectin, inflammatory, angiogenesis-, and oxidative stress-related biomarkers, are evaluated. We further outline methodological challenges, limitations of single biomarkers, and unmet needs in validation and clinical translation.Expert opinion: We emphasize that the persistent focus on isolated biomarkers is unlikely to meet the complexity of pregnancy in patients with IBD. Instead, we propose that integrative multi-omics approaches capturing interacting biological processes represent a more conceptually sensible path forward. While rigorous prospective validation and standardization are essential before clinical implementation, such strategies hold promise for more personalized risk stratification and monitoring of pregnant patients with IBD.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"195-200"},"PeriodicalIF":4.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689120","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

Alpha-synuclein seed amplification assays differentiate synucleinopathies. α -突触核蛋白种子扩增试验鉴别突触核蛋白病。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-03-01 Epub Date: 2026-04-22 DOI: 10.1080/14737159.2026.2663033

Wei Dai, Hao Lin, Hengxu Mao, Yaoyun Kuang, Pingyi Xu, Hongyan Li

{"title":"Alpha-synuclein seed amplification assays differentiate synucleinopathies.","authors":"Wei Dai, Hao Lin, Hengxu Mao, Yaoyun Kuang, Pingyi Xu, Hongyan Li","doi":"10.1080/14737159.2026.2663033","DOIUrl":"10.1080/14737159.2026.2663033","url":null,"abstract":"Introduction: Synucleinopathies are characterized by the misfolding and aggregation of α-synuclein (α-Syn) into pathogenic strains that seed Lewy-body pathology in neurons and/or glial cytoplasmic inclusions in oligodendrocytes. α-syn seed-amplification assays (α-Syn SAAs) detect as little as 20 femtogram of synthetic α-Syn pre-formed fibrils (PFFs) or analogous synthetic aggregates in biospecimens, offering high sensitivity and specificity for synucleinopathies.Areas covered: We review how distinct α-Syn strains propagate in Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA), and we summarize the biophysical and procedural variables that govern SAA kinetics. We aim to identify an optimal means of modulating α-Syn SAA parameters so that each synucleinopathy subtype consistently yields distinct and stable kinetic signatures, thereby facilitating accurate biochemical diagnosis.Expert opinion: α-Syn SAA holds the potential to become a routine assay for discriminating among synucleinopathy subtypes. Future research should focus on standardizing α-Syn SAA protocols, exploring the detailed mechanisms of distinct α-Syn strains propagation, and developing novel therapeutic strategies based on these insights.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"223-239"},"PeriodicalIF":4.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147722067","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

CRISPR-Cas system: recent advancements in prompt diagnosis of high-risk HPV genotypes in cervical cancer. CRISPR-Cas系统：宫颈癌高危HPV基因型快速诊断的最新进展。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-03-01 Epub Date: 2026-04-10 DOI: 10.1080/14737159.2026.2654503

Pushpendra Singh, Kuldeep Sharma, Vaibhav K Tamrakar, Ruchi Khare, Anudita Bhargava, Sanjay Singh Negi

{"title":"CRISPR-Cas system: recent advancements in prompt diagnosis of high-risk HPV genotypes in cervical cancer.","authors":"Pushpendra Singh, Kuldeep Sharma, Vaibhav K Tamrakar, Ruchi Khare, Anudita Bhargava, Sanjay Singh Negi","doi":"10.1080/14737159.2026.2654503","DOIUrl":"10.1080/14737159.2026.2654503","url":null,"abstract":"Introduction: The CRISPR/Cas system has emerged as a highly versatile platform for diagnosing infectious diseases, particularly viral pathogens. Human papillomavirus (HPV) comprises of more than 200 types, with persistent infection by 14 high-risk genotypes recognized as the primary cause of cervical cancer worldwide. Early and accurate detection of these High-Risk HPV (HR-HPV) types is essential for effective clinical management and prevention of disease progression.Areas covered: This narrative review was based on literature searches in PubMed, Scopus, and Google Scholar covering studies published between 2015 and 2024. This review summarizes recent advances in CRISPR/Cas based diagnostics for HR-HPV, including both pre-amplification and amplification-free strategies. Integration of CRISPR systems with diverse readout modalities such as colorimetric, fluorescent, electrochemical, and lateral-flow biosensors has enabled rapid, sensitive, and user-friendly detection suitable for point-of-care testing (POCT), particularly in low-resource settings.Expert opinion: CRISPR/Cas assays demonstrate high sensitivity, specificity, and speed, offering a promising alternative to conventional molecular techniques for HR-HPV detection and genotyping. The convergence of CRISPR diagnostics with artificial intelligence, microfluidics, and affordable biosensors holds significant potential to transform community-level HPV screening. With continued innovation and regulatory support, CRISPR/Cas systems are poised to become indispensable tools for early HR-HPV detection and cervical cancer prevention.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"241-256"},"PeriodicalIF":4.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147591186","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

LncRNA HAR1A in triple-negative breast cancer: mechanisms and the role of polymorphism rs 6089838 in susceptibility. LncRNA HAR1A在三阴性乳腺癌中的作用机制及其多态性rs 6089838在易感性中的作用

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-03-01 Epub Date: 2026-04-30 DOI: 10.1080/14737159.2026.2660916

Xiaobing Yi, Lina Huang, Linna Kong, Xuena Yi, Huihui Zhang, Jiaqi Liu, Lei Han

{"title":"LncRNA HAR1A in triple-negative breast cancer: mechanisms and the role of polymorphism rs 6089838 in susceptibility.","authors":"Xiaobing Yi, Lina Huang, Linna Kong, Xuena Yi, Huihui Zhang, Jiaqi Liu, Lei Han","doi":"10.1080/14737159.2026.2660916","DOIUrl":"10.1080/14737159.2026.2660916","url":null,"abstract":"Background: Long non-coding RNAs (lncRNAs) are increasingly recognized as crucial regulators and potential biomarkers in triple-negative breast cancer (TNBC). This study examined the link between the rs6089838 polymorphism in HAR1A and TNBC susceptibility/progression and function.Research design and methods: 197 TNBC patients and 185 healthy controls were recruited. Rs6089838 genotyping and serum lncRNA HAR1A quantification were performed using qRT PCR. Survival was analyzed via KM and Cox regression.. Cellular proliferation, migration, and invasion were measured using CCK-8 and Transwell assays.Results: The GG genotype significantly lowered TNBC risk versus the AA genotype (OR =0.393, p = 0.002). GA/GG genotypes were associated with more favorable clinicopathological features. Serum lncRNA HAR1A was downregulated in TNBC patients (p < 0.001) and was positively correlated with the protective G allele frequency (p < 0.001). GA/GG carriers showed significantly longer overall survival than AA homozygotes (p < 0.001). Functional studies confirmed that HAR1A overexpression via pcDNA3.1 suppressed proliferation, migration, and invasion in breast cancer cell lines. Conversely, siRNA-mediated lncRNA HAR1A knockdown enhanced these oncogenic traits.Conclusion: The G allele of HAR1A rs6089838 represents a protective variant against TNBC susceptibility and progression, likely through HAR1A's tumor-suppressive activity. This SNP may have potential as a biomarker for TNBC risk and prognosis assessment.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"267-276"},"PeriodicalIF":4.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766704","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