Expert Review of Molecular Diagnostics最新文献_第2页

Mild behavioral impairment and neurodegeneration: time for a biomarker-based assessment. 轻度行为障碍和神经退行性变：基于生物标志物的评估时间。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-05-01 Epub Date: 2025-03-20 DOI: 10.1080/14737159.2025.2479627

Maria Francesca Beatino, Lorenzo Lattanzi, Camilla Elefante, Roberto Ceravolo, Filippo Baldacci, Giulio Perugi

引用次数: 0

The value of molecular features in predicting efficacy of immuno-combinations in kidney cancer: just a drop in the ocean? 分子特征在预测免疫联合治疗肾癌疗效中的价值：只是沧海一粟？

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-05-01 Epub Date: 2025-03-12 DOI: 10.1080/14737159.2025.2478996

Matteo Rosellini, Elisa Tassinari, Linda Danielli, Andrea Marchetti, Costantino Ricci, Matteo Santoni, Veronica Mollica, Francesco Massari

引用次数: 0

Advances in biomarkers in multiple system atrophy. 多系统萎缩生物标志物研究进展。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-05-01 Epub Date: 2025-04-06 DOI: 10.1080/14737159.2025.2489729

Anastasia Bougea

{"title":"Advances in biomarkers in multiple system atrophy.","authors":"Anastasia Bougea","doi":"10.1080/14737159.2025.2489729","DOIUrl":"10.1080/14737159.2025.2489729","url":null,"abstract":"Introduction: In order to improve illness identification, monitoring, and patient outcomes, this special report emphasizes the revolutionary potential of fluid and imaging biomarkers using new diagnostic technologies in Multiple system atrophy (MSA).Areas covered: Innovations like multiplex seeding aggregation assays (SAA), 18FDG-Positron Emission Tomography (PET), and SPECT) are changing the diagnostic landscape. These techniques make it easier to detect MSA early and offer noninvasive monitoring choices. Although neurofilament light chain measurements in blood and cerebrospinal fluid (CSF), as well as α-synuclein-based diagnostic biomarkers in CSF, are recognized as both diagnostic and surrogatemarkers of disease progression in MSA, their application in clinical practiceis limited to research. Some efforts are being made in the development ofselective α- synucleinPET tracers despite numerous barriers in visualizing intracellular localization of α-synuclein. The primary drawbacks include the high expense of SAA and imaging technologies, the paucity of multicenter longitudinal investigations, and the lack of uniformity of the prοtocols. The research highlights that to successfully solve these restrictions, stakeholders must continue to collaborate.Expert opinion: A multi-dimensional biomarker system of MSA patients maximizes the power of contemporary diagnostics to enhance MSA care by prioritizing the ongoing evaluation of multi-omics data.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"151-155"},"PeriodicalIF":3.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143778972","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

Evolution and future of cervical cancer screening: from cytology to primary HPV testing and the impact of vaccination. 宫颈癌筛查的演变和未来：从细胞学到原发性HPV检测和疫苗接种的影响。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-05-01 Epub Date: 2025-04-04 DOI: 10.1080/14737159.2025.2486653

Mariam El-Zein, Eduardo L Franco

{"title":"Evolution and future of cervical cancer screening: from cytology to primary HPV testing and the impact of vaccination.","authors":"Mariam El-Zein, Eduardo L Franco","doi":"10.1080/14737159.2025.2486653","DOIUrl":"10.1080/14737159.2025.2486653","url":null,"abstract":"Introduction: Cervical cancer remains a significant global health challenge despite decades of progress in screening and prevention. Global cervical cancer screening practices vary substantially, with many countries still relying on cytology-based methods, despite evidence supporting the superior performance of human papillomavirus (HPV)-based screening.Areas covered: This review explores the historical evolution as well as current landscape and policies of cervical cancer screening, with a focus on Western countries. We discuss the gradual transition from cytology to HPV DNA testing as the primary screening method, while recognizing the continuing role of cytology as a triage method. We also argue that HPV vaccination will have a transformative impact on screening practices, necessitating the need for adapting screening strategies to a post-vaccination world.Expert opinion: The role of cytology in cervical cancer screening will become increasingly limited due to its diminished effectiveness post-HPV vaccination, as many abnormal cytology results will likely be false positives. This could lead to unnecessary procedures, underscoring the need for adjustments in screening strategies and HPV testing to align with the fact that cervical precancerous lesions will become exceedingly rare.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"157-164"},"PeriodicalIF":3.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742707","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

Multi-omic profiling in breast cancer: utility for advancing diagnostics and clinical care. 乳腺癌的多组学分析：推进诊断和临床护理的实用工具。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-05-01 Epub Date: 2025-04-07 DOI: 10.1080/14737159.2025.2482639

Emna El Gazzah, Scott Parker, Mariaelena Pierobon

{"title":"Multi-omic profiling in breast cancer: utility for advancing diagnostics and clinical care.","authors":"Emna El Gazzah, Scott Parker, Mariaelena Pierobon","doi":"10.1080/14737159.2025.2482639","DOIUrl":"10.1080/14737159.2025.2482639","url":null,"abstract":"Introduction: Breast cancer remains a major global health challenge. While advances in precision oncology have contributed to improvements in patient outcomes and provided a deeper understanding of the biological mechanisms that drive the disease, historically, research and patients' allocation to treatment have heavily relied on single-omic approaches, analyzing individual molecular dimensions such as genomics, transcriptomics, or proteomics. While these have provided deep insights into breast cancer biology, they often fail to offer a complete understanding of the disease's complex molecular landscape.Areas covered: In this review, the authors explore the recent advancements in multi-omic research in the realm of breast cancer and use clinical data to show how multi-omic integration can offer a more holistic understanding of the molecular alterations and their functional consequences underlying breast cancer.Expert opinion: The overall developments in multi-omic research and AI are expected to complement precision diagnostics through potentially refining prognostic models, and treatment selection. Overcoming challenges such as cost, data complexity, and lack of standardization is crucial for unlocking the full potential of multi-omics and AI in breast cancer patient care to enable the advancement of personalized treatments and improve patient outcomes.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"165-181"},"PeriodicalIF":3.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795049","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 : 2025-04-28 DOI: 10.1080/14737159.2025.2498545

Jennifer H Chen, Yimin Geng, Anthony Lucci

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 : 2025-04-28 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":"https://doi.org/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":"1-8"},"PeriodicalIF":3.9,"publicationDate":"2025-04-28","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

A systematic review on the molecular pathways of Ameloblastic carcinoma when compared to Ameloblastoma. 成釉细胞癌与成釉细胞瘤分子途径的系统综述。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-04-28 DOI: 10.1080/14737159.2025.2499180

Nikita Garg, Revathi Krishna, Aadithya B Urs, Priya Kumar, Jeyaseelan Augustine

{"title":"A systematic review on the molecular pathways of Ameloblastic carcinoma when compared to Ameloblastoma.","authors":"Nikita Garg, Revathi Krishna, Aadithya B Urs, Priya Kumar, Jeyaseelan Augustine","doi":"10.1080/14737159.2025.2499180","DOIUrl":"https://doi.org/10.1080/14737159.2025.2499180","url":null,"abstract":"Background: Ameloblastic carcinoma (AC), malignancy originating from the odontogenic epithelium, shows histological overlap with ameloblastoma (AM). In order to unravel mechanisms driving AC, it is imperative to understand the molecular distinction between these two entities. This systematic review aims to highlight molecular and immunohistochemical markers involved in the pathogenesis of AC and to distinguish it from its histological mimic, AM.Research design and methods: Literature search across three databases including PubMed, Web of Sciences, and Scopus was carried out from year 1999 to 2023 for original human case control studies involving AM, AC, and controls as study groups. Various biological markers studied in the literature were grouped based on principal molecular pathways. Joanna Briggs Institute (JBI), a critical appraisal tool for case control studies, was used to assess the risk of bias (RoB).Results: Out of the 277 studies identified during the initial search, 28 studies were found eligible. These studies reported expression of various immunohistochemical (IHC), genetic and epigenetic markers in AC, AM, and controls through immunohistochemistry and gene sequencing.Conclusion: Stem cells, epigenetics, and growth factors define the pathways involved in pathogenesis of AC and may prove to be a potential therapeutic target in the future.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-13"},"PeriodicalIF":3.9,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974349","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

Cytokines as biomarkers of Huntington's disease progression. 细胞因子作为亨廷顿病进展的生物标志物。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-04-26 DOI: 10.1080/14737159.2025.2498539

Natalia P Rocha, Erin Furr-Stimming, Antonio L Teixeira

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 : 2025-04-23 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":"1-12"},"PeriodicalIF":3.9,"publicationDate":"2025-04-23","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