Expert Review of Molecular Diagnostics最新文献

筛选
英文 中文
Biomarkers of sleep-wake disturbance as predictors of cognitive decline and accelerated disease progression. 睡眠-觉醒障碍生物标志物可预测认知能力下降和疾病加速进展。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2024-08-01 Epub Date: 2024-08-11 DOI: 10.1080/14737159.2024.2389307
Aren Tucker, Terry E Goldberg, Hyun Kim
{"title":"Biomarkers of sleep-wake disturbance as predictors of cognitive decline and accelerated disease progression.","authors":"Aren Tucker, Terry E Goldberg, Hyun Kim","doi":"10.1080/14737159.2024.2389307","DOIUrl":"10.1080/14737159.2024.2389307","url":null,"abstract":"<p><strong>Introduction: </strong>In older adults, where sleep disturbances and cognitive impairment are common, mounting evidence suggests a potential connection between sleep and cognitive function, highlighting the significance of utilizing sleep as a biomarker for early detection of cognitive impairment to improve clinical outcomes in a noninvasive, cost-effective manner.</p><p><strong>Areas covered: </strong>This review describes the relationship between sleep and cognitive function in older adults, encompassing both subjective and objective measures of sleep quality, duration, architecture, and sleep-disordered breathing. The authors consider the directionality of the associations observed in prospective and cross-sectional studies, exploring whether sleep disturbances precede cognitive decline or vice versa. Furthermore, they discuss the potential bidirectional relationships between sleep and Alzheimer's disease (AD) risks in older adults while also examining the neurodegenerative pathways of this relationship.</p><p><strong>Expert opinion: </strong>Routine sleep monitoring in primary care settings has the potential to bolster early detection and treatment of sleep disturbance, and by extension, reduce the risk of dementia. Improving sleep assessment tools, such as wearables, provide scalable alternatives to traditional methods like polysomnography, potentially enabling widespread monitoring of sleep characteristics. Standardized measurement and inclusive participant recruitment are needed to enhance generalizability, while longitudinal studies are essential to understand the interaction between sleep and AD pathology.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141916481","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
CYP19A1 polymorphisms and bladder cancer risk in the Chinese Han population. 中国汉族人群中的 CYP19A1 多态性与膀胱癌风险。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2024-08-01 Epub Date: 2024-08-05 DOI: 10.1080/14737159.2024.2387652
Jing Liang, Yongfei Li, Panpan Wan, Wenjing Zhang, Junhui Han, Man Zhang, Bin Li, Tianbo Jin
{"title":"<i>CYP19A1</i> polymorphisms and bladder cancer risk in the Chinese Han population.","authors":"Jing Liang, Yongfei Li, Panpan Wan, Wenjing Zhang, Junhui Han, Man Zhang, Bin Li, Tianbo Jin","doi":"10.1080/14737159.2024.2387652","DOIUrl":"10.1080/14737159.2024.2387652","url":null,"abstract":"<p><strong>Background: </strong>The expression of <i>CYP19A1</i> has implications for the prognosis of female bladder cancer. However, this study aimed to explore the association between single nucleotide polymorphisms (SNPs) in <i>CYP19A1</i> and bladder cancer risk, as no prior research has addressed this association.</p><p><strong>Research design and methods: </strong>We selected and genotyped five <i>CYP19A1</i> SNPs (rs4646, rs6493487, rs1062033, rs17601876, and rs3751599) in 217 patients and 550 controls using the Agena MassARRAY system. Logistic regression analysis was employed to calculate the odds ratio (OR) and 95% confidence intervals (CIs). Bioinformatics predicted SNP functions and <i>CYP19A1</i> involving pathways.</p><p><strong>Results: </strong>Our study revealed a significant association between bladder cancer risk and four SNPs (rs4646 (AC vs. CC: OR = 1.71, FDR-<i>p</i> = 0.005), rs6493487 (G vs. A: OR = 0.68, FDR-<i>p</i> = 0.011), rs1062033 (G vs. C: OR = 0.36, FDR-<i>p</i> < 0.001), and rs17601876 (GA vs. GG: OR = 1.66, FDR-<i>p</i> = 0.008)) in <i>CYP19A1</i>. The three SNPs (rs4646, rs1062033, and rs17601876) were significantly correlated with <i>CYP19A1</i> expression levels in normal whole blood (<i>p</i> < 0.05). Moreover, <i>CYP19A1</i> was found to primarily participate in the steroid hormone biosynthesis and metabolic pathways.</p><p><strong>Conclusions: </strong>Consequently, <i>CYP19A1</i> gene polymorphisms may play a crucial role in the genetic susceptibility to bladder cancer.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859380","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
Recent advances in CRISPR-Cas systems for colorectal cancer research and therapeutics. 用于结直肠癌研究和治疗的 CRISPR-Cas 系统的最新进展。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2024-08-01 Epub Date: 2024-08-12 DOI: 10.1080/14737159.2024.2388777
Saeideh Khorshid Sokhangouy, Farzaneh Alizadeh, Malihe Lotfi, Samaneh Sharif, Atefeh Ashouri, Yasamin Yoosefi, Saeed Bozorg Qomi, Mohammad Reza Abbaszadegan
{"title":"Recent advances in CRISPR-Cas systems for colorectal cancer research and therapeutics.","authors":"Saeideh Khorshid Sokhangouy, Farzaneh Alizadeh, Malihe Lotfi, Samaneh Sharif, Atefeh Ashouri, Yasamin Yoosefi, Saeed Bozorg Qomi, Mohammad Reza Abbaszadegan","doi":"10.1080/14737159.2024.2388777","DOIUrl":"10.1080/14737159.2024.2388777","url":null,"abstract":"<p><strong>Introduction: </strong>Colon cancer, ranked as the fourth leading global cause of cancer death, exhibits a complex progression marked by genetic variations. Over the past decade, the utilization of diverse CRISPR systems has propelled accelerated research into colorectal cancer (CRC) treatment.</p><p><strong>Areas covered: </strong>CRISPR/Cas9, a key player in this research, identifies new oncogenes, tumor suppressor genes (TSGs), and drug-resistance genes. Additionally, it facilitates the construction of experimental models, conducts genome-wide library screening, and develops new therapeutic targets, especially for targeted knockout in vivo or molecular targeted drug delivery, contributing to personalized treatments and significantly enhancing the care of colon cancer patients. In this review, we provide insights into the mechanism of the CRISPR/Cas9 system, offering a comprehensive exploration of its applications in CRC, spanning screening, modeling, gene functions, diagnosis, and gene therapy. While acknowledging its transformative potential, the article  highlights the challenges and limitations of CRISPR systems.</p><p><strong>Expert opinion: </strong>The application of CRISPR/Cas9 in CRC research provides a promising avenue for personalized treatments. Its potential for identifying key genes and enabling experimental models and genome-wide screening enhances patient care. This review underscores the significance of CRISPR-Cas9 gene editing technology across basic research, diagnosis, and the treatment landscape of colon cancer.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141916482","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 review of the value of point-of-care testing for community-acquired pneumonia. 回顾社区获得性肺炎护理点检测的价值。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2024-08-01 Epub Date: 2024-08-12 DOI: 10.1080/14737159.2024.2391027
Andrea Palomeque, Catia Cilloniz, Alba Soler-Comas, Joan Canseco-Ribas, Nona Rovira-Ribalta, Anna Motos, Antoni Torres
{"title":"A review of the value of point-of-care testing for community-acquired pneumonia.","authors":"Andrea Palomeque, Catia Cilloniz, Alba Soler-Comas, Joan Canseco-Ribas, Nona Rovira-Ribalta, Anna Motos, Antoni Torres","doi":"10.1080/14737159.2024.2391027","DOIUrl":"10.1080/14737159.2024.2391027","url":null,"abstract":"<p><strong>Introduction: </strong>Community-acquired pneumonia (CAP) is an infectious disease associated with high mortality worldwide. Although Streptococcus pneumoniae remains the most frequent pathogen in CAP, data from recent studies using molecular tests have shown that respiratory viruses play a key role in adults with pneumonia. The impact of difficult-to-treat pathogens on the outcomes of pneumonia is also important even though they represent only a small proportion of overall cases. Despite improvements in the microbiological diagnosis of CAP in recent decades, the identification of the causative pathogen is often delayed because of difficulties in obtaining good-quality sputum samples, issues in transporting samples, and slow laboratory processes. Therefore, the initial treatment of CAP is usually empirical. Point-of-care testing (POCT) was introduced to avoid treatment delays and reduce reliance on empirical antibiotics.</p><p><strong>Areas covered: </strong>This review summarizes the main scientific evidence on the role of POCT in the diagnosis and management of patients with CAP. The authors searched for articles on POCT in pneumonia on PubMed from inception to 20 January 2024. The references in the identified articles were also searched.</p><p><strong>Expert opinion: </strong>POCT involves rapid diagnostic assays that can be performed at the bedside especially in cases of severe CAP and immunocompromised patients. These tests can produce results that could help guide initial therapy and management.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970920","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
An overview of circulating and urinary biomarkers capable of predicting the transition of acute kidney injury to chronic kidney disease. 能够预测急性肾损伤向慢性肾病转变的循环和尿液生物标志物概述。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2024-07-01 Epub Date: 2024-07-15 DOI: 10.1080/14737159.2024.2379355
Alexander E Berezin, Tetiana A Berezina, Uta C Hoppe, Michael Lichtenauer, Alexander A Berezin
{"title":"An overview of circulating and urinary biomarkers capable of predicting the transition of acute kidney injury to chronic kidney disease.","authors":"Alexander E Berezin, Tetiana A Berezina, Uta C Hoppe, Michael Lichtenauer, Alexander A Berezin","doi":"10.1080/14737159.2024.2379355","DOIUrl":"10.1080/14737159.2024.2379355","url":null,"abstract":"<p><strong>Introduction: </strong>Acute kidney injury (AKI) defined by a substantial decrease in kidney function within hours to days and is often irreversible with higher risk to chronic kidney disease (CKD) transition.</p><p><strong>Areas covered: </strong>The authors discuss the diagnostic and predictive utilities of serum and urinary biomarkers on AKI and on the risk of AKI-to-CKD progression. The authors focus on the relevant literature covering evidence of circulating and urinary biomarkers' capability to predict the transition of AKI to CKD.</p><p><strong>Expert opinion: </strong>Based on the different modalities of serum and urinary biomarkers, multiple biomarker panel seems to be potentially useful to distinguish between various types of AKI, to detect the severity and the risk of AKI progression, to predict the clinical outcome and evaluate response to the therapy. Serum/urinary neutrophil gelatinase-associated lipocalin (NGAL), serum/urinary uromodulin, serum extracellular high mobility group box-1 (HMGB-1), serum cystatin C and urinary liver-type fatty acid-binding protein (L-FABP) were the most effective in the prediction of AKI-to-CKD transition regardless of etiology and the presence of critical state in patients. The current clinical evidence on the risk assessments of AKI progression is mainly based on the utility of combination of functional, injury and stress biomarkers, mainly NGAL, L-FABP, HMGB-1 and cystatin C.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141616106","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
Interpreting the results of rapid molecular diagnostic tests for carbapenem-resistant Enterobacterales infection: current clinical perspective while waiting for further evidence. 解读耐碳青霉烯类肠杆菌感染快速分子诊断检测的结果:在等待进一步证据的同时从当前临床角度看问题。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2024-07-01 Epub Date: 2024-07-25 DOI: 10.1080/14737159.2024.2383851
Daniele Roberto Giacobbe, Vincenzo Di Pilato, Antonio Vena, Anna Marchese, Matteo Bassetti
{"title":"Interpreting the results of rapid molecular diagnostic tests for carbapenem-resistant Enterobacterales infection: current clinical perspective while waiting for further evidence.","authors":"Daniele Roberto Giacobbe, Vincenzo Di Pilato, Antonio Vena, Anna Marchese, Matteo Bassetti","doi":"10.1080/14737159.2024.2383851","DOIUrl":"10.1080/14737159.2024.2383851","url":null,"abstract":"<p><strong>Introduction: </strong>Carbapenem-resistant Enterobacterales (CRE) causing severe infections in humans have represented an important challenge for clinicians worldwide during the past two decades.</p><p><strong>Areas covered: </strong>Novel β-lactams and β-lactam/β-lactamase inhibitor combinations have led to a shift in the first-line approach to the treatment of severe CRE infections from polymyxin-based regimens to treatment with less toxic agents. This new scenario offers the opportunity to apply rapid molecular diagnostic tests for CRE infection to identify different types of carbapenemases. Herein, the authors provide an overview of this subject and follow it with their expert perspectives.</p><p><strong>Expert opinion: </strong>When considering studies actually measuring the clinical impact of rapid molecular tests in real-life scenarios, high certainty evidence from randomized controlled trials is still limited and not focused on CRE infections. Nonetheless, it is indisputable that rapid molecular tests have been shown to impact early therapeutic choices (in terms of both escalation and de-escalation) when used in real-life settings, thus issues in the clinical interpretation of their results are already relevant. Overall, increased expertise is required for the appropriate interpretation of rapid molecular tests for personalized antibiotic selection by understanding their strengths and limitations.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141758046","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
Are we closer to robust predictors of recurrent pregnancy loss by means of integrating different types of omics data? 通过整合不同类型的 omics 数据,我们是否更接近于预测复发性妊娠失败?
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2024-07-01 Epub Date: 2024-07-08 DOI: 10.1080/14737159.2024.2375235
Yiqiu Wei, Zhimin Deng, Tailang Yin
{"title":"Are we closer to robust predictors of recurrent pregnancy loss by means of integrating different types of omics data?","authors":"Yiqiu Wei, Zhimin Deng, Tailang Yin","doi":"10.1080/14737159.2024.2375235","DOIUrl":"10.1080/14737159.2024.2375235","url":null,"abstract":"","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141554491","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
[68Ga]PSMA-11 for positron emission tomography (PET) imaging of prostate-specific membrane antigen (PSMA)-positive lesions in men with prostate cancer. [68Ga]PSMA-11用于前列腺癌男性患者前列腺特异性膜抗原(PSMA)阳性病灶的正电子发射断层扫描(PET)成像。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2024-07-01 Epub Date: 2024-07-25 DOI: 10.1080/14737159.2024.2383439
Jessica Clore, Peter J H Scott
{"title":"[<sup>68</sup>Ga]PSMA-11 for positron emission tomography (PET) imaging of prostate-specific membrane antigen (PSMA)-positive lesions in men with prostate cancer.","authors":"Jessica Clore, Peter J H Scott","doi":"10.1080/14737159.2024.2383439","DOIUrl":"10.1080/14737159.2024.2383439","url":null,"abstract":"<p><strong>Introduction: </strong>Theranostics targeting prostate-specific membrane antigen (PSMA) represent a new targeted approach for prostate cancer care that combines diagnostic and therapeutic radiopharmaceuticals to diagnose and treat the disease. Positron emission tomography (PET) is the imaging method of choice and several diagnostic radiopharmaceuticals for quantifying PSMA have received FDA approval and are in clinical use. [<sup>68</sup>Ga]Ga-PSMA-11 is one such imaging agent and the focus of this article. One beta-emitting radioligand therapy ([<sup>177</sup>Lu]Lu-PSMA-617) has also received FDA approval for prostate cancer treatment, and several other alpha- and beta-emitting radioligand therapies are in clinical trials.</p><p><strong>Areas covered: </strong>Theranostics targeting PSMA in men with prostate cancer are discussed with a focus on use of [<sup>68</sup>Ga]Ga-PSMA-11 for imaging PSMA-positive lesions in men with prostate cancer. The review covers [<sup>68</sup>Ga]Ga-PSMA-11 manufacture, current regulatory status, comparison of [<sup>68</sup>Ga]Ga-PSMA-11 to other imaging techniques, clinical updates, and emerging applications of artificial intelligence for [<sup>68</sup>Ga]Ga-PSMA-11 PET.</p><p><strong>Expert opinion: </strong>[<sup>68</sup>Ga]Ga-PSMA-11 is used in conjunction with a PET/CT scan to image PSMA positive lesions in men with prostate cancer. It is manufactured by chelating precursor with<sup>68</sup>Ga, either from a generator or cyclotron, and has regulatory approval around the world. It is widely used clinically in conjunction with radioligand therapies like [<sup>177</sup>Lu]Lu-PSMA-617.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141758045","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
Metabolomics for searching validated biomarkers in cancer studies: a decade in review. 在癌症研究中寻找有效生物标记物的代谢组学:十年回顾。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2024-07-01 Epub Date: 2024-06-21 DOI: 10.1080/14737159.2024.2368603
Ángeles López-López, Ángeles López-Gonzálvez, Coral Barbas
{"title":"Metabolomics for searching validated biomarkers in cancer studies: a decade in review.","authors":"Ángeles López-López, Ángeles López-Gonzálvez, Coral Barbas","doi":"10.1080/14737159.2024.2368603","DOIUrl":"10.1080/14737159.2024.2368603","url":null,"abstract":"<p><strong>Introduction: </strong>In the dynamic landscape of modern healthcare, the ability to anticipate and diagnose diseases, particularly in cases where early treatment significantly impacts outcomes, is paramount. Cancer, a complex and heterogeneous disease, underscores the critical importance of early diagnosis for patient survival. The integration of metabolomics information has emerged as a crucial tool, complementing the genotype-phenotype landscape and providing insights into active metabolic mechanisms and disease-induced dysregulated pathways.</p><p><strong>Areas covered: </strong>This review explores a decade of developments in the search for biomarkers validated within the realm of cancer studies. By critically assessing a diverse array of research articles, clinical trials, and studies, this review aims to present an overview of the methodologies employed and the progress achieved in identifying and validating biomarkers in metabolomics results for various cancer types.</p><p><strong>Expert opinion: </strong>Through an exploration of more than 800 studies, this review has allowed to establish a general idea about state-of-art in the search of biomarkers in metabolomics studies involving cancer which include certain level of results validation. The potential for metabolites as diagnostic markers to reach the clinic and make a real difference in patient health is substantial, but challenges remain to be explored.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141431722","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 impact of next-generation sequencing for diagnosis and disease understanding of myeloid malignancies. 下一代测序对诊断和了解骨髓恶性肿瘤疾病的影响。
IF 3.9 3区 医学
Expert Review of Molecular Diagnostics Pub Date : 2024-07-01 Epub Date: 2024-07-25 DOI: 10.1080/14737159.2024.2383445
Erica Vormittag-Nocito, Madina Sukhanova, Lucy A Godley
{"title":"The impact of next-generation sequencing for diagnosis and disease understanding of myeloid malignancies.","authors":"Erica Vormittag-Nocito, Madina Sukhanova, Lucy A Godley","doi":"10.1080/14737159.2024.2383445","DOIUrl":"10.1080/14737159.2024.2383445","url":null,"abstract":"<p><strong>Introduction: </strong>Defining the chromosomal and molecular changes associated with myeloid neoplasms (MNs) optimizes clinical care through improved diagnosis, prognosis, treatment planning, and patient monitoring. This review will concisely describe the techniques used to profile MNs clinically today, with descriptions of challenges and emerging approaches that may soon become standard-of-care.</p><p><strong>Areas covered: </strong>In this review, the authors discuss molecular assessment of MNs using non-sequencing techniques, including conventional cytogenetic analysis, fluorescence in situ hybridization, chromosomal genomic microarray testing; as well as DNA- or RNA-based next-generation sequencing (NGS) assays; and sequential monitoring via digital PCR or measurable residual disease assays. The authors explain why distinguishing somatic from germline alleles is critical for optimal management. Finally, they introduce emerging technologies, such as long-read, whole exome/genome, and single-cell sequencing, which are reserved for research purposes currently but will become clinical tests soon.</p><p><strong>Expert opinion: </strong>The authors describe challenges to the adoption of comprehensive genomic tests for those in resource-constrained environments and for inclusion into clinical trials. In the future, all aspects of patient care will likely be influenced by the adaptation of artificial intelligence and mathematical modeling, fueled by rapid advances in telecommunications.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141758047","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信