Expert Review of Molecular Diagnostics最新文献_第5页

The use of metagenomics to enhance diagnosis of encephalitis. 宏基因组学在脑炎诊断中的应用。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-06-01 Epub Date: 2025-05-07 DOI: 10.1080/14737159.2025.2500655

Sarah Buddle, Oscar Enrique Torres Montaguth, Sofia Morfopoulou, Judith Breuer, Julianne R Brown

{"title":"The use of metagenomics to enhance diagnosis of encephalitis.","authors":"Sarah Buddle, Oscar Enrique Torres Montaguth, Sofia Morfopoulou, Judith Breuer, Julianne R Brown","doi":"10.1080/14737159.2025.2500655","DOIUrl":"10.1080/14737159.2025.2500655","url":null,"abstract":"Introduction: Encephalitis has a broad etiology, including infectious and auto-immune causes. In infectious encephalitis, the breadth of causative organisms results in incomplete testing and low diagnostic yields.Metagenomics sequences all DNA and RNA allowing untargeted detection of all organisms in a single specimen; this is of particular use in diagnosis of encephalitis with a broad etiology.Areas covered: We review the literature and discuss metagenomics workflows, host depletion and pathogen enrichment methods, bioinformatics analysis and potential analysis of the host transcriptome to aid diagnosis. We discuss the clinical use of metagenomics for diagnosis of neurological infection including time to result, cost, quality assurance, patient cohorts in whom metagenomics adds the most value, recommended specimen types, limitations and review published cases in which metagenomics has been used to diagnose encephalitis.Expert opinion: There is good evidence for the utility of metagenomics to diagnose infection in encephalitis. Due to infections with rare, unexpected or novel pathogens, metagenomics adds most value to diagnosis in immunocompromised patients and the greatest diagnostic yield is in brain biopsies. Technical advances are needed to reduce the complexity, cost and time to result which will enable wider adoption in clinical laboratories and use as a first-line test.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"245-262"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143960004","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

Applications of ctDNA testing to monitor and detect residual disease in breast cancer. ctDNA检测在监测和检测乳腺癌残留病变中的应用。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-06-01 Epub Date: 2025-04-28 DOI: 10.1080/14737159.2025.2498545

Jennifer H Chen, Yimin Geng, Anthony Lucci

引用次数: 0

From detection to action: new diagnostic insights into antifungal resistance. 从检测到行动：抗真菌耐药性的新诊断见解。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-06-01 Epub Date: 2025-03-10 DOI: 10.1080/14737159.2025.2477027

Renu Chaudhary, Zoozeal Thakur

引用次数: 0

Diagnostic approach to leptomeningeal involvement in diffuse large B-cell lymphoma. 弥漫性大b细胞淋巴瘤累及小脑膜的诊断方法。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-06-01 Epub Date: 2025-05-15 DOI: 10.1080/14737159.2025.2485211

Alexandra Šúri, Heidi Mociková

{"title":"Diagnostic approach to leptomeningeal involvement in diffuse large B-cell lymphoma.","authors":"Alexandra Šúri, Heidi Mociková","doi":"10.1080/14737159.2025.2485211","DOIUrl":"10.1080/14737159.2025.2485211","url":null,"abstract":"Introduction: Central nervous system (CNS) involvement in diffuse large B-cell lymphoma (DLBCL) is a rare but serious condition requiring accurate diagnostics. Cerebrospinal fluid (CSF) analysis plays a crucial role, particularly in cases where biopsy is not feasible, and imaging is inconclusive.Areas covered: Chemical markers have limitations, particularly in low-cellularity samples. Novel molecular techniques, including circulating tumor DNA (ctDNA) analysis and microRNAs (miRNAs), are gaining prominence for their ability to detect gene mutations at diagnosis and monitor minimal residual disease during follow-up. The sensitivity and specificity of genetic mutations, particularly MYD88 L265P, in combination with interleukin-10 (IL-10) levels, are discussed. The literature search methodology involved reviewing relevant studies and clinical data.This review examines both traditional and emerging methods for CSF analysis in diagnosing CNS involvement in DLBCL. Conventional approaches such as cytomorphology, flow cytometry, and biochemical markers have limitations, particularly in low-cellularity samples. Novel molecular techniques, including ctDNA analysis and miRNAs, are gaining prominence for their ability to detect gene mutations at diagnosis and monitor minimal residual disease during follow-up. The sensitivity and specificity of genetic mutations, particularly MYD88 L265P, in combination with interleukin-10 (IL-10) levels, are discussed. The literature search methodology involved reviewing relevant studies and clinical data.Expert opinion: Advancements in CSF biomarker analysis are improving the diagnosis of CNS lymphoma, aiding early detection and personalized treatment approaches. However, further research and broader clinical validation are necessary for their routine implementation.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"209-215"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993737","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

Evaluation of ctDNA-based ESR1 testing in breast cancer: results from the first external quality assessment scheme in China. 基于ctdna的ESR1检测在乳腺癌中的评价：来自中国首个外部质量评估方案的结果

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-06-01 Epub Date: 2025-04-28 DOI: 10.1080/14737159.2025.2498542

Guigao Lin, Jing Li, Kuo Zhang

{"title":"Evaluation of ctDNA-based ESR1 testing in breast cancer: results from the first external quality assessment scheme in China.","authors":"Guigao Lin, Jing Li, Kuo Zhang","doi":"10.1080/14737159.2025.2498542","DOIUrl":"10.1080/14737159.2025.2498542","url":null,"abstract":"Background: Circulating tumor DNA (ctDNA) testing of plasma for ESR1 somatic variants is essential for guiding treatment decisions in hormone receptor-positive (HR + ) and HER2-negative (HER2-) advanced or metastatic breast cancer (MBC) patients who have progressed on frontline therapy. To ensure optimal, uniform, and reliable ESR1 testing across China, an pilot external quality assessment (EQA) scheme was established.Methods: Aliquots of five artificial reference plasma samples containing ESR1 mutations at varying allelic frequencies were distributed to 37 laboratories for testing and reporting according to routine procedures. The genotyping accuracy and clinical reporting were evaluated against standardized criteria, and feedback was provided to the participants.Results: The overall genotyping error rate in the EQA was 6.29%, with 91.4% of laboratories correctly identifying the ESR1 mutational status in all samples. A variety of extraction methods and analytical techniques were employed. However, reports often failed to address the risk that tumor DNA may not have been tested, and the limitations of the methodologies used by participants were insufficiently discussed.Conclusion: The variability in genotyping accuracy and reporting standards underscores the importance of EQA and educational guidance to ensure the provision of high-quality clinical services.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"297-304"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965168","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

Extracellular vesicles as source of biomarkers in hematological malignancies: looking towards clinical applications. 细胞外囊泡作为血液恶性肿瘤生物标志物的来源：展望临床应用。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-06-01 Epub Date: 2025-04-23 DOI: 10.1080/14737159.2025.2488919

Claudia Ielo, Massimo Breccia

{"title":"Extracellular vesicles as source of biomarkers in hematological malignancies: looking towards clinical applications.","authors":"Claudia Ielo, Massimo Breccia","doi":"10.1080/14737159.2025.2488919","DOIUrl":"10.1080/14737159.2025.2488919","url":null,"abstract":"Introduction: Extracellular vesicles are membranous particles released by cells in physiological and pathological conditions. Their cargo is heterogeneous since it includes different biomolecules such as nucleic acids and proteins. Oncogenic alterations affect the composition of extracellular vesicles and model their content during cancer evolution.Areas covered: This review provides an overview of the studies focused on extracellular vesicles as source of biomarkers in hematological malignancies. A special insight into extracellular vesicles-derived biomarkers as tools for evaluating the prognosis of hematological malignancies and their response to treatment is given.Expert opinion: Extracellular vesicles are a valuable source of biomarkers in hematological malignancies. However, the translation from the bench to the bedside is challenged by the lack of standardization of the preanalytical variables of the experimental workflow. The release of standard operating procedures and the validation of the extracellular vesicles-derived biomarkers in large cohort of patients will help in exploiting the potential of extracellular vesicles in the clinical setting.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"233-244"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771806","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

Homologous recombination deficiency: a reliable biomarker or a misleading indicator? 同源重组缺陷：一个可靠的生物标志物还是一个误导性的指标？

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-06-01 Epub Date: 2025-03-25 DOI: 10.1080/14737159.2025.2485212

Hisamitsu Takaya, Shiro Takamatsu, Hidekatsu Nakai, Noriomi Matsumura

引用次数: 0

Circulating tumor DNA as a powerful tool in diagnostics and treatment outcome prediction - focus on large B-cell lymphomas and follicular lymphomas. 循环肿瘤DNA作为诊断和治疗预后预测的有力工具-重点关注大b细胞淋巴瘤和滤泡性淋巴瘤。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-06-01 Epub Date: 2025-05-22 DOI: 10.1080/14737159.2025.2500659

Iva Hamova, Maria Maco, Anton Tkachenko, Kristyna Kupcova, Adriana Velasova, Marek Trneny, Heidi Mocikova, Ondrej Havranek

{"title":"Circulating tumor DNA as a powerful tool in diagnostics and treatment outcome prediction - focus on large B-cell lymphomas and follicular lymphomas.","authors":"Iva Hamova, Maria Maco, Anton Tkachenko, Kristyna Kupcova, Adriana Velasova, Marek Trneny, Heidi Mocikova, Ondrej Havranek","doi":"10.1080/14737159.2025.2500659","DOIUrl":"10.1080/14737159.2025.2500659","url":null,"abstract":"Introduction: Pathogenesis of large B-cell lymphomas (LBCL) and follicular lymphomas (FL) is a multistep process associated with the development of diverse DNA alterations and consequent deregulation of critical cellular processes. Detection of tumor-associated mutations within non-tumor compartments (mainly plasma) is the basis of the 'liquid biopsy' concept. Apart from tumor mutational profiling, quantitative analysis of circulating tumor DNA (ctDNA) allows longitudinal assessment of tumor burden. ctDNA-based technologies provide a new tool for tumor diagnostics and treatment personalization.Areas covered: Our review provides a comprehensive overview and summary of available ctDNA studies in LBCL and FL. The accuracy of ctDNA-based detection of lymphoma-associated DNA alterations is correlated to known LBCL and FL molecular landscape. Additionally, we summarized available evidence that supports and justifies the clinical use of ctDNA for lymphoma risk stratification, treatment response evaluation, and treatment response-adapted therapy. Lastly, we discuss other clinically important ctDNA applications: monitoring of lymphoma clonal evolution within resistance and/or relapse development and utilization of ctDNA for diagnostics in non-blood fluids and compartments (e.g. cerebrospinal fluid in primary CNS lymphomas).Expert opinion: Despite certain challenges, including methodological standardization, ctDNA holds promise to soon become an integral part of lymphoma diagnostics and treatment management.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"275-295"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974724","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 integration of biomarkers and patient-reported outcomes improves prediction of interstitial cystitis syndrome. 生物标志物和患者报告结果的整合改善了间质性膀胱炎综合征的预测。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-06-01 Epub Date: 2025-05-06 DOI: 10.1080/14737159.2025.2502035

Yu-Chen Chen, Hann-Chorng Kuo

{"title":"The integration of biomarkers and patient-reported outcomes improves prediction of interstitial cystitis syndrome.","authors":"Yu-Chen Chen, Hann-Chorng Kuo","doi":"10.1080/14737159.2025.2502035","DOIUrl":"10.1080/14737159.2025.2502035","url":null,"abstract":"Introduction: Interstitial Cystitis/Bladder Pain Syndrome (IC/BPS) is a chronic condition characterized by debilitating bladder pain and urinary symptoms, such as urgency and frequency. Its considerable impact on patients' quality of life is compounded by the diagnostic challenges stemming from symptom overlap with other urological disorders and insufficient standardization of diagnostic criteria.Areas covered: This review examines various key aspects of IC/BPS, including the identification of biomarkers such as interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-α), monocyte chemotactic protein-1 (MCP-1) and vascular endothelial growth factor (VEGF) that correlate with symptom severity and underlying inflammatory processes. It discusses the importance of urinary and serum biomarkers, current challenges in clinical assessments, the variability in biomarker collection and analysis methods, and emphasizes the role of patient-reported outcomes (PROs) such as the O'Leary - Sant (ICSI/ICPI) questionnaires and the Visual Analogue Scale in capturing the patient's subjective experience and quality of life.Expert opinion: Strengthening the integration of biomarkers with PROs is crucial for enhancing diagnostic accuracy and personalizing treatment approaches for IC/BPS patients. The review calls for future research to develop standardized protocols, which will improve patient care by facilitating a more tailored management strategy based on a comprehensive understanding of IC/BPS.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"217-232"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981129","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

Screening for oropharyngeal cancer: the time is now. 口咽癌筛查：现在正是时候。

IF 3.6 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-05-01 Epub Date: 2025-03-24 DOI: 10.1080/14737159.2025.2478999

Kristina R Dahlstrom, Erich M Sturgis, Karen S Anderson

引用次数: 0