Molecular Diagnosis & Therapy最新文献

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Revakinagene Taroretcel: First Approval. Revakinagene Taroretcel:首次批准。
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2025-06-20 DOI: 10.1007/s40291-025-00787-5
Sheridan M Hoy
{"title":"Revakinagene Taroretcel: First Approval.","authors":"Sheridan M Hoy","doi":"10.1007/s40291-025-00787-5","DOIUrl":"https://doi.org/10.1007/s40291-025-00787-5","url":null,"abstract":"<p><p>Revakinagene taroretcel (revakinagene taroretcel-lwey; ENCELTO™) is an encapsulated cell-based gene therapy containing 200,000-440,000 allogeneic retinal pigment epithelial (RPE) cells expressing recombinant human ciliary neurotrophic factor (rhCNTF). Available as a single-dose intravitreal implant, it has been developed by Neurotech Pharmaceuticals, Inc. for the treatment of chronic retinal diseases. In March 2025, revakinagene taroretcel received its first approval for the treatment of adults with idiopathic macular telangiectasia (MacTel) type 2 in the USA. It is the first US FDA-approved treatment for this disease. Revakinagene taroretcel has been granted Orphan Drug Designation for retinitis pigmentosa and Fast Track Designation for retinitis pigmentosa and dry age-related macular degeneration in the USA. This article summarises the milestones in the development of revakinagene taroretcel leading to this first approval for the treatment of adults with idiopathic MacTel type 2 in the USA.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144334321","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 and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy. 35例1b型糖原储存病患者的临床和遗传特征:SGLT2抑制剂治疗前后的比较分析
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2025-06-19 DOI: 10.1007/s40291-025-00795-5
Maja Djordjevic Milosevic, Anita Skakic, Bozica Kecman, Sara Stankovic, Ivona Kovacevic, Sonja Pavlovic, Maja Stojiljkovic
{"title":"Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.","authors":"Maja Djordjevic Milosevic, Anita Skakic, Bozica Kecman, Sara Stankovic, Ivona Kovacevic, Sonja Pavlovic, Maja Stojiljkovic","doi":"10.1007/s40291-025-00795-5","DOIUrl":"https://doi.org/10.1007/s40291-025-00795-5","url":null,"abstract":"<p><strong>Background: </strong>Glycogen storage disease type 1b (GSD 1b) is an ultra-rare disease worldwide, whereas in Serbia it has an unexpectedly high prevalence. GSD 1b is the result of variants in the SLC37A4 gene and reduced function of the enzyme glucose 6 phosphate translocase (G6PT). In addition to the classic symptoms of GSD 1a, patients with GSD 1b have neutropenia and impaired neutrophil function.</p><p><strong>Methods: </strong>The genotype and clinical profile were analyzed in 35 patients, 26 of whom were children. In all patients, pathogenic variants in the SLC37A4 gene were confirmed using Sanger or next-generation sequencing (NGS). Eight different variants were found. The following clinical data were analyzed: age at diagnosis, first symptoms of GSD 1b, severity of intestinal symptoms, lowest neutrophil count, mean hemoglobin value, height, body mass index (BMI), and quality of life. Patients were classified into four groups based on the severity of their intestinal symptoms.</p><p><strong>Results: </strong>In our study 30 patients received empagliflozin therapy. Our data are comprised of information from a total of 62 treatment years and include self-reported quality-of-life surveys before and during empagliflozin therapy. The average age at which empagliflozin was introduced in pediatric patients was 8.5 years, with the youngest two patients, both female, starting SGLT2 inhibitor therapy at the age of two.</p><p><strong>Conclusions: </strong>Our findings suggest that empagliflozin therapy significantly improves neutropenia recovery by reducing the frequency of recurrent infections and inflammatory bowel disease (IBD)-like symptoms. This improvement was demonstrated by a marked reduction in skin and mucosal infections, particularly oral ulcers, as well as an increase in hemoglobin levels and overall stature.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327537","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 Understanding Long COVID: Pathophysiological Mechanisms and the Role of Omics Technologies in Biomarker Identification. 了解长冠肺炎的进展:病理生理机制和组学技术在生物标志物鉴定中的作用。
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2025-06-18 DOI: 10.1007/s40291-025-00792-8
Mônica Duarte da Silva, Thamires Santos da Silva, Claudemir Gregório Mendes, Maria Carolina Miglino Valbão, Abraham Kwame Badu-Tawiah, Lucas Fornari Laurindo, Sandra Maria Barbalho, Rosa Direito, Maria Angélica Miglino
{"title":"Advances in Understanding Long COVID: Pathophysiological Mechanisms and the Role of Omics Technologies in Biomarker Identification.","authors":"Mônica Duarte da Silva, Thamires Santos da Silva, Claudemir Gregório Mendes, Maria Carolina Miglino Valbão, Abraham Kwame Badu-Tawiah, Lucas Fornari Laurindo, Sandra Maria Barbalho, Rosa Direito, Maria Angélica Miglino","doi":"10.1007/s40291-025-00792-8","DOIUrl":"https://doi.org/10.1007/s40291-025-00792-8","url":null,"abstract":"<p><p>Long coronavirus disease (COVID) is a multisystem condition that affects a significant proportion of individuals following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, with persistent symptoms ranging from fatigue and cognitive dysfunction to cardiovascular disorders. It is estimated that 30-60% of infected individuals experience symptoms lasting more than 12 weeks. Despite advances in understanding acute infection, the pathophysiological mechanisms underlying long COVID remain unclear. Current hypotheses suggest that viral persistence, immune dysfunction, and metabolic alterations play central roles. Omics approaches, including metabolomics, proteomics, and lipidomics, have played a crucial role in investigating molecular changes, identifying biomarkers, and refining therapeutic strategies. This review discusses recent advances in understanding long COVID, addressing its mechanisms, risk factors, the impact of viral variants, and the role of vaccination, with an emphasis on the importance of omics technologies in elucidating this condition.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327536","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
Research Progress on Signal Conversion Based on Aptamer Combined CRISPR/Cas System in Biosensors. 基于适体组合CRISPR/Cas系统的生物传感器信号转换研究进展
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2025-06-18 DOI: 10.1007/s40291-025-00785-7
Yihua Wang, Hui Li, Sijian Luo, Min Zhong, Jinbo Liu, Baolin Li
{"title":"Research Progress on Signal Conversion Based on Aptamer Combined CRISPR/Cas System in Biosensors.","authors":"Yihua Wang, Hui Li, Sijian Luo, Min Zhong, Jinbo Liu, Baolin Li","doi":"10.1007/s40291-025-00785-7","DOIUrl":"https://doi.org/10.1007/s40291-025-00785-7","url":null,"abstract":"<p><p>The CRISPR/Cas system has been extensively used in the fields of biology, food safety, and environmental monitoring. This is in part because its can to be used in combination with isothermal amplification-mediated signal amplification technology along with its extraordinary trans-cleavage ability, which has initiated a new era of biosensing applications. The popularity of functional nucleic acids has enabled aptamers to convert non-nucleic acid substances into programmable nucleic acid sequences through methods such as direct detection, lock activation, sandwich design, induction of conformations, and split aptamers. Additionally, CRISPR/Cas systems have been extended beyond nucleic acid detection to include ions, small molecules, proteins, cells, bacteria, viruses, and other non-nucleic acid-based target substances. This article provides a brief overview of the mechanisms of action of four Cas proteins, the generation of aptamers, and their combined applications. Moreover, we focus on the research progress of biosensors based on aptamer-based signal conversion combined with the CRISPR/Cas system.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327538","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 Role of MicroRNAs in the Pathogenesis and as Biomarkers for Pediatric Epilepsy: A Systematic Review. microrna在儿童癫痫发病机制中的作用和作为生物标志物:系统综述。
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2025-06-08 DOI: 10.1007/s40291-025-00791-9
Fady Zakaria, Steven Amged Yousef, Janna AbdelDayem, Rawan ElGamal, Omar Y Issa, Mohamed Mansour, Harvey Bastorous, Eslam Emad, Rudayna Mahgoub
{"title":"The Role of MicroRNAs in the Pathogenesis and as Biomarkers for Pediatric Epilepsy: A Systematic Review.","authors":"Fady Zakaria, Steven Amged Yousef, Janna AbdelDayem, Rawan ElGamal, Omar Y Issa, Mohamed Mansour, Harvey Bastorous, Eslam Emad, Rudayna Mahgoub","doi":"10.1007/s40291-025-00791-9","DOIUrl":"https://doi.org/10.1007/s40291-025-00791-9","url":null,"abstract":"<p><strong>Purpose: </strong>Epilepsy is highly prevalent among children, making it one of the most common neurological diseases in the pediatric population. Its diagnosis is problematic, largely depending on clinical judgment and inaccurate investigative studies. Thus, a more objective investigation is warranted. MicroRNAs (miRNAs) are small molecules found in various body fluids and tissues that prove to have potential, as they play an important role in the pathogenesis of epilepsy. This review evaluates the use of miRNAs in the diagnosis, prediction, and prognosis of pediatric epilepsy. Furthermore, it discusses the use of miRNAs as therapeutic agents and the relationship between miRNAs and antiepileptic drugs (AEDs).</p><p><strong>Methods: </strong>From inception until 7 July 2024, a thorough search of PubMed, Europe PMC, PubMed Central, and Google Scholar was conducted.</p><p><strong>Results: </strong>Our review is based on 18 studies on pediatric patients with epilepsy according to the selection criteria. A total of 33 different miRNAs for diagnosis, 13 for prediction, and 2 for prognosis of pediatric epilepsy in a total sample size of 663, 111, and 163 pediatric patients, respectively, in addition to 20 miRNAs for the diagnosis of focal epilepsy, and a further 4 for generalized epilepsy in the same population were interpreted in our systematic review.</p><p><strong>Conclusions: </strong>These studies suggest that miRNA usage as a diagnostic, predictive, and prognostic biomarker for pediatric patients with epilepsy is promising. However, further research on that population is needed, as the number of studies is limited, with several bias concerns and heterogeneity, with the need for clinical trials to assess the use of miRNAs as drug agents. PROSPERO registration no. ID: PROSPERO 2024 CRD42024578258.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144250563","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
Current Methods in Clinical Alzheimer's Disease Research and Diagnosis. 阿尔茨海默病临床研究与诊断的新方法
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2025-06-07 DOI: 10.1007/s40291-025-00789-3
Eleftheria Kodosaki, Henrik Zetterberg, Amanda Heslegrave
{"title":"Current Methods in Clinical Alzheimer's Disease Research and Diagnosis.","authors":"Eleftheria Kodosaki, Henrik Zetterberg, Amanda Heslegrave","doi":"10.1007/s40291-025-00789-3","DOIUrl":"https://doi.org/10.1007/s40291-025-00789-3","url":null,"abstract":"<p><p>Early and accurate diagnosis of Alzheimer's disease is crucial for enabling timely intervention and improving patient outcomes. Recent advancements in molecular and imaging methodologies have significantly enhanced the detection of Alzheimer's disease at its early stages and have improved the quality of research in the field. Key molecular approaches include the identification of biomarkers such as amyloid-beta plaques and tau protein tangles, which are central to Alzheimer's disease pathology. These biomarkers can be detected through biofluid analysis or imaging methods, offering high sensitivity, however with disadvantages, which are discussed here. Despite the transition of some of these methods from research settings to clinical practice, several challenges persist, including the need for standardisation across diagnostic platforms and ensuring the accessibility of these advanced technologies within diverse healthcare systems. Additionally, the high cost and requirement for specialised expertise remain significant barriers. Here, we discuss the need to improve the effectiveness of early AD diagnosis, the ongoing research that is being conducted to refine biomarker detection, enhance imaging techniques and develop more cost-effective non-invasive diagnostic approaches. These advancements are essential to overcoming current limitations and ensuring a broader application in clinical settings.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144250562","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
Utilization of a Multi-modal Comprehensive Genomic and Immune Profiling Testing Strategy Results in a High Rate of Test Success and Detection of Clinically Relevant Biomarkers While Optimizing Tissue Usage. 利用多模式综合基因组和免疫谱分析测试策略,在优化组织使用的同时,提高了测试成功率和临床相关生物标志物的检测率。
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2025-06-07 DOI: 10.1007/s40291-025-00793-7
Michelle F Green, Zachary D Wallen, Heidi C Ko, Kyle C Strickland, Alicia Dillard, Jeffrey M Conroy, Durga P Dash, Mary K Nesline, Paul DePietro, Shengle Zhang, Kamal S Saini, Pratheesh Sathyan, Marcia Eisenberg, Brian Caveney, Shakti Ramkissoon, Eric A Severson, Rebecca A Previs
{"title":"Utilization of a Multi-modal Comprehensive Genomic and Immune Profiling Testing Strategy Results in a High Rate of Test Success and Detection of Clinically Relevant Biomarkers While Optimizing Tissue Usage.","authors":"Michelle F Green, Zachary D Wallen, Heidi C Ko, Kyle C Strickland, Alicia Dillard, Jeffrey M Conroy, Durga P Dash, Mary K Nesline, Paul DePietro, Shengle Zhang, Kamal S Saini, Pratheesh Sathyan, Marcia Eisenberg, Brian Caveney, Shakti Ramkissoon, Eric A Severson, Rebecca A Previs","doi":"10.1007/s40291-025-00793-7","DOIUrl":"https://doi.org/10.1007/s40291-025-00793-7","url":null,"abstract":"<p><strong>Background: </strong>Molecular profiling is quickly becoming standard for patients with advanced cancer, with an increasing number of biomarker-directed therapies and innovative precision diagnostics available. However, with the expansion of relevant biomarkers, clinicians often face challenges obtaining optimal detection from limited tumor tissue. Here, we present biomarker detection rates from comprehensive genomic and immune profiling (CGIP) performed as a component of routine clinical care using a multi-modal testing strategy.</p><p><strong>Methods: </strong>CGIP was performed on 20,645 solid tumor specimens in a CAP/CLIA and NYS CLEP-certified reference laboratory, including DNA- and RNA-based next-generation sequencing (NGS), RNA gene expression profiling, and PD-L1 immunohistochemistry (IHC). RNA and DNA were co-extracted to optimize tissue usage. Clinical significance of detected biomarkers was classified in accordance with the joint consensus recommendations of the Association for Molecular Pathology (AMP), American Society of Clinical Oncology (ASCO), and the College of American Pathologists (CAP).</p><p><strong>Results: </strong>Adequacy of specimens for analysis with each test component varied from 99.8% (20,612) for PD-L1 IHC to 87.7% (18,113) for RNA-based NGS. DNA-based NGS had a > 96.0% success rate across all result components (short variants, copy number alterations, and genomic signatures), while RNA-based NGS and gene expression profiling were successful for 92.1% (16,689) and 90.2% (17,275) of cases, respectively. Median turnaround time from specimen receipt in the testing laboratory to report delivery was 8 days (range 1-35). Within our cohort of 15,815 cases with complete results available, 61.0% (9650) had at least one tier 1 biomarker with known clinical significance, 88.8% (14,039) had at least one tier 2 biomarker with potential clinical significance, 57.5% (9,090) had both tier 1 and 2 biomarkers, and 7.7% (1216) had no clinically significant biomarkers detected. Biomarker detection rates varied across tumor types, increasing with the addition of testing modalities.</p><p><strong>Conclusions: </strong>Utilization of a multi-modal CGIP testing strategy resulted in a high rate of test success and detection of clinically relevant biomarkers while optimizing tissue usage.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144250564","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
Nectin-4-Targeting Radiotracers: Novel Theranostic Agents for Precision Oncology in Cancer. 靶向nectin -4的放射性示踪剂:癌症精准肿瘤的新型治疗药物。
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2025-06-05 DOI: 10.1007/s40291-025-00786-6
Giorgia Speltri, Ilham Badrane, Rebecca Napolitano, Alessandra Boschi, Licia Uccelli, Luca Filippi, Massimo Guidoboni, Matteo Brunelli, Federica Lancia, Petra Martini, Antonella Iudicello, Corrado Cittanti, Mirco Bartolomei, Luca Urso
{"title":"Nectin-4-Targeting Radiotracers: Novel Theranostic Agents for Precision Oncology in Cancer.","authors":"Giorgia Speltri, Ilham Badrane, Rebecca Napolitano, Alessandra Boschi, Licia Uccelli, Luca Filippi, Massimo Guidoboni, Matteo Brunelli, Federica Lancia, Petra Martini, Antonella Iudicello, Corrado Cittanti, Mirco Bartolomei, Luca Urso","doi":"10.1007/s40291-025-00786-6","DOIUrl":"https://doi.org/10.1007/s40291-025-00786-6","url":null,"abstract":"<p><p>Nectin cell adhesion molecule 4 (Nectin-4) is specifically overexpressed in most cancers of epithelial origin but downregulated in normal tissue, representing an ideal target for positron emission tomography imaging. The development of positron emission tomography imaging probes targeting Nectin-4 has gained significant attention in recent years, especially after the approval in December 2019 by the US Food and Drug Administration of enfortumab vedotin-an antibody drug conjugate targeting Nectin-4-in patients with locally advanced or metastatic bladder cancer. This article aims to comprehensively review original research articles discussing preclinical development or early translational clinical applications of radiolabeled probes targeting Nectin-4. The main radioactive compounds investigated belong to two classes, antibody-based radiopharmaceuticals and peptide-drug conjugates, in particular novel bicyclic peptides. While monoclonal antibody-based probes have demonstrated theranostic potential in preclinical studies, their clinical application has been hindered by their slow pharmacokinetic properties. However, peptide-based positron emission tomography/computed tomography tracers offer several advantages, such as ease of handling in synthesis, a more favorable biodistribution, and lower immunogenicity and have been tested in preliminary clinical experiences.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235745","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
Cell-Free HPV-DNA in Screening, Diagnosis, Prognosis, and Treatment Response Monitoring of Cervical Cancer. 无细胞HPV-DNA在宫颈癌筛查、诊断、预后和治疗反应监测中的应用。
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2025-06-03 DOI: 10.1007/s40291-025-00790-w
Nayara Nascimento Toledo Silva, Ana Carolina Silva Santos, Isadora Oliveira Ansaloni Pereira, Glenda Nicioli da Silva, Angélica Alves Lima
{"title":"Cell-Free HPV-DNA in Screening, Diagnosis, Prognosis, and Treatment Response Monitoring of Cervical Cancer.","authors":"Nayara Nascimento Toledo Silva, Ana Carolina Silva Santos, Isadora Oliveira Ansaloni Pereira, Glenda Nicioli da Silva, Angélica Alves Lima","doi":"10.1007/s40291-025-00790-w","DOIUrl":"https://doi.org/10.1007/s40291-025-00790-w","url":null,"abstract":"<p><p>Persistent infection with high-risk human papillomavirus (HPV) is a significant factor in cervical cancer (CC) development. Although CC screening programs have reduced the incidence of this neoplasm, the number of deaths remains high, especially in developing countries: CC remains the fourth most common neoplasm in the female population globally. Currently, an HPV test has been replacing cytological analysis because it is a more sensitive screening method. However, the collection of gynecological material is still necessary, which can be a barrier to adherence to testing in the target population. Host cells presenting with a viral infection release fragments of their DNA into circulation, known as cell-free DNA (cfDNA); this allows detection through venous puncture, a routine procedure in clinical laboratories. Thus, the objective of this review was to evaluate the role of cfDNA of HPV (cfHPV-DNA) as an alternative tool for CC screening, diagnosis, prognosis, and treatment response monitoring. Furthermore, the development of sensitive methods, such as droplet digital PCR (ddPCR) and next-generation sequencing (NGS), have proven useful in identifying tumor markers for CC. The specificity of the primers, the size of the target DNA fragments, and variables such as sample type and volume, in addition to the cfDNA extraction kit used, can influence the results of cfHPV-DNA detection. Although the detection of cfHPV-DNA in plasma and serum of patients with CC is feasible, there were conflicting results regarding cfHPV-DNA detection in the blood circulation of patients with premalignant lesions. On the other hand, when CC is already established, the detection and quantification of cfHPV-DNA have shown potential as a biomarker for tumor staging, prognosis definition, and treatment response monitoring.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144217395","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 Minimal Residual Disease in Patients with Neuroblastoma. 神经母细胞瘤患者微小残留病的评估。
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2025-05-31 DOI: 10.1007/s40291-025-00788-4
Nobuyuki Yamamoto, Kikyo Ishizawa, Mayuno Umemoto, Akihiro Nishimura, Tomoko Fujikawa, Shotaro Inoue, Naoko Nakatani, Akihiro Tamura, Nanako Nino, Suguru Uemura, Daiichiro Hasegawa, Yoshiyuki Kosaka, Noriyuki Nishimura
{"title":"Evaluation of Minimal Residual Disease in Patients with Neuroblastoma.","authors":"Nobuyuki Yamamoto, Kikyo Ishizawa, Mayuno Umemoto, Akihiro Nishimura, Tomoko Fujikawa, Shotaro Inoue, Naoko Nakatani, Akihiro Tamura, Nanako Nino, Suguru Uemura, Daiichiro Hasegawa, Yoshiyuki Kosaka, Noriyuki Nishimura","doi":"10.1007/s40291-025-00788-4","DOIUrl":"https://doi.org/10.1007/s40291-025-00788-4","url":null,"abstract":"<p><p>Neuroblastoma (NB) is a pediatric extracranial solid tumor that accounts for approximately 15% of all pediatric cancer deaths. More than 50% of patients with newly diagnosed NB are classified into a high-risk group with an approximately 50% long-term survival rate. Although most high-risk patients with NB achieve remission, more than half may have minimal residual disease (MRD) that eventually causes relapse. Looking towards an optimal outcome, the accurate evaluation of MRD in patients with NB (NB-MRD) is essential to monitor the treatment response and disease burden. Over the past decades, the quantification of NB-associated messenger RNA (NB-mRNA) by reverse transcriptase-polymerase chain reaction has become widely used to detect NB-MRD, owing to the lack of recurrent genomic aberrations in NB cells. To achieve a more accurate and sensitive detection, the current NB-MRD assays quantify a set of NB-mRNAs to detect NB cells in bone marrow, peripheral blood, and peripheral blood stem cell samples. Among a growing number of NB-MRD assays, several assays quantitating different but overlapping sets of NB-mRNAs are reported to have a significant prognostic value. However, the clinical significance of NB-MRD remains to be established. In this review, we summarize the recent progress in NB-MRD and evaluate its clinical value.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192436","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
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