Oliver D Tavabie, Siamak Salehi, Varuna R Aluvihare
{"title":"The challenges and potential in developing microRNA associated with regeneration as biomarkers to improve prognostication for liver failure syndromes and hepatocellular carcinoma.","authors":"Oliver D Tavabie, Siamak Salehi, Varuna R Aluvihare","doi":"10.1080/14737159.2023.2292642","DOIUrl":"10.1080/14737159.2023.2292642","url":null,"abstract":"<p><strong>Introduction: </strong>Determining the need for liver transplantation remains critical in the management of hepatocellular carcinoma (HCC) and liver failure syndromes (including acute liver failure and decompensated cirrhosis states). Conventional prognostic models utilize biomarkers of liver and non-liver failure and have limitations in their application. Novel biomarkers which predict regeneration may fulfil this niche. microRNA are implicated in health and disease and are present in abundance in the circulation. Despite this, they have not translated into mainstream clinical biomarkers.</p><p><strong>Areas covered: </strong>We will discuss current challenges in the prognostication of patients with liver failure syndromes as well as for patients with HCC. We will discuss biomarkers implicated with liver regeneration. We then provide an overview of the challenges in developing microRNA into clinically tractable biomarkers. Finally, we will provide a scoping review of microRNA which may have potential as prognostic biomarkers in liver failure syndromes and HCC.</p><p><strong>Expert opinion: </strong>Novel biomarkers are needed to improve prognostic models in liver failure syndromes and HCC. Biomarkers associated with liver regeneration are currently lacking and may fulfil this niche. microRNA have the potential to be developed into clinically tractable biomarkers but a consensus on standardizing methodology and reporting is required prior to large-scale studies.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"5-22"},"PeriodicalIF":5.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138498138","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}
Shi-Ping Yang, Ke Liu, Yang Li, Guan-Qiao Li, Jia-Yi Li, Yu-Yi Lin, San-Gang Wu
{"title":"Utilization and outcomes of the 21-gene recurrence score in de novo metastatic breast cancer.","authors":"Shi-Ping Yang, Ke Liu, Yang Li, Guan-Qiao Li, Jia-Yi Li, Yu-Yi Lin, San-Gang Wu","doi":"10.1080/14737159.2024.2301940","DOIUrl":"10.1080/14737159.2024.2301940","url":null,"abstract":"<p><strong>Background: </strong>Limited data exist regarding the utility and validity of the 21-gene recurrence score (RS) in patients with de novo metastatic breast cancer (dnMBC). This study aimed to investigate the practice patterns as well as associated survival outcomes based on 21-gene RS in dnMBC.</p><p><strong>Research design and methods: </strong>The Surveillance, Epidemiology, and End Results Oncotype database was queried for women with hormone receptor-positive and Her2-negative dnMBC.</p><p><strong>Results: </strong>A total of 153 patients were identified, including 62.7% and 37.3% of patients who had RS < 26 and ≥ 26, respectively. Patients with RS ≥ 26 were more likely to receive chemotherapy compared to those with RS < 26 (61.4% vs. 28.1%, <i>p</i> < 0.001). Patients with RS ≥ 26 had an inferior breast cancer-specific survival (BCSS) (2-year BCSS: 84.3% vs. 89.5, <i>p</i> = 0.067) and overall survival (OS) compared to those with RS < 26 (2-year OS: 76.9% vs. 87.4%, <i>p</i> = 0.018). The multivariate Cox proportional hazard models showed that those with RS ≥ 26 had a significantly inferior BCSS (hazard ratio [HR] 2.251, 95% confidence interval [CI] 1.056-4.799, <i>p</i> = 0.036) and OS (HR 2.151, 95%CI 1.123-4.120, <i>p</i> = 0.021) compared to those with RS < 26.</p><p><strong>Conclusions: </strong>The 21-gene RS assay is an important prognostic factor in patients with dnMBC.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"99-106"},"PeriodicalIF":5.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139086515","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}
{"title":"Molecular biomarkers of diffuse axonal injury: recent advances and future perspectives.","authors":"Youyou Zhang, Zhaoyang Li, Hui Wang, Zhiyong Pei, Shuquan Zhao","doi":"10.1080/14737159.2024.2303319","DOIUrl":"10.1080/14737159.2024.2303319","url":null,"abstract":"<p><strong>Introduction: </strong>Diffuse axonal injury (DAI), with high mortality and morbidity both in children and adults, is one of the most severe pathological consequences of traumatic brain injury. Currently, clinical diagnosis, disease assessment, disability identification, and postmortem diagnosis of DAI is mainly limited by the absent of specific molecular biomarkers.</p><p><strong>Areas covered: </strong>In this review, we first introduce the pathophysiology of DAI, summarized the reported biomarkers in previous animal and human studies, and then the molecular biomarkers such as β-Amyloid precursor protein, neurofilaments, S-100β, myelin basic protein, tau protein, neuron-specific enolase, Peripherin and Hemopexin for DAI diagnosis is summarized. Finally, we put forward valuable views on the future research direction of diagnostic biomarkers of DAI.</p><p><strong>Expert opinion: </strong>In recent years, the advanced technology has ultimately changed the research of DAI, and the numbers of potential molecular biomarkers was introduced in related studies. We summarized the latest updated information in such studies to provide references for future research and explore the potential pathophysiological mechanism on diffuse axonal injury.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"39-47"},"PeriodicalIF":5.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139106074","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}
Monica T Hannani, Christian S Thudium, Morten A Karsdal, Christoph Ladel, Ali Mobasheri, Melanie Uebelhoer, Jonathan Larkin, Jaume Bacardit, André Struglics, Anne-Christine Bay-Jensen
{"title":"From biochemical markers to molecular endotypes of osteoarthritis: a review on validated biomarkers.","authors":"Monica T Hannani, Christian S Thudium, Morten A Karsdal, Christoph Ladel, Ali Mobasheri, Melanie Uebelhoer, Jonathan Larkin, Jaume Bacardit, André Struglics, Anne-Christine Bay-Jensen","doi":"10.1080/14737159.2024.2315282","DOIUrl":"10.1080/14737159.2024.2315282","url":null,"abstract":"<p><strong>Introduction: </strong>Osteoarthritis (OA) affects over 500 million people worldwide. OA patients are symptomatically treated, and current therapies exhibit marginal efficacy and frequently carry safety-risks associated with chronic use. No disease-modifying therapies have been approved to date leaving surgical joint replacement as a last resort. To enable effective patient care and successful drug development there is an urgent need to uncover the pathobiological drivers of OA and how these translate into disease endotypes. Endotypes provide a more precise and mechanistic definition of disease subgroups than observable phenotypes, and a panel of tissue- and pathology-specific biochemical markers may uncover treatable endotypes of OA.</p><p><strong>Areas covered: </strong>We have searched PubMed for full-text articles written in English to provide an in-depth narrative review of a panel of validated biochemical markers utilized for endotyping of OA and their association to key OA pathologies.</p><p><strong>Expert opinion: </strong>As utilized in IMI-APPROACH and validated in OAI-FNIH, a panel of biochemical markers may uncover disease subgroups and facilitate the enrichment of treatable molecular endotypes for recruitment in therapeutic clinical trials. Understanding the link between biochemical markers and patient-reported outcomes and treatable endotypes that may respond to given therapies will pave the way for new drug development in OA.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"23-38"},"PeriodicalIF":5.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139729344","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}
Gabriele Roccuzzo, Eleonora Bongiovanni, Luca Tonella, Valentina Pala, Sara Marchisio, Alessia Ricci, Rebecca Senetta, Luca Bertero, Simone Ribero, Enrico Berrino, Caterina Marchiò, Anna Sapino, Pietro Quaglino, Paola Cassoni
{"title":"Emerging prognostic biomarkers in advanced cutaneous melanoma: a literature update.","authors":"Gabriele Roccuzzo, Eleonora Bongiovanni, Luca Tonella, Valentina Pala, Sara Marchisio, Alessia Ricci, Rebecca Senetta, Luca Bertero, Simone Ribero, Enrico Berrino, Caterina Marchiò, Anna Sapino, Pietro Quaglino, Paola Cassoni","doi":"10.1080/14737159.2024.2314574","DOIUrl":"10.1080/14737159.2024.2314574","url":null,"abstract":"<p><strong>Introduction: </strong>Over the past two years, the scientific community has witnessed an exponential growth in research focused on identifying prognostic biomarkers for melanoma, both in pre-clinical and clinical settings. This surge in studies reflects the need of developing effective prognostic indicators in the field of melanoma.</p><p><strong>Areas covered: </strong>The aim of this work is to review the scientific literature on the most recent findings on the development or validation of prognostic biomarkers in melanoma, in the attempt of providing both clinicians and researchers with an updated broad synopsis of prognostic biomarkers in cutaneous melanoma.</p><p><strong>Expert opinion: </strong>While the field of prognostic biomarkers in melanoma appears promising, there are several complexities and limitations to address. The interdependence of clinical, histological, and molecular features requires accurate classification of different biomarker families. Correlation does not imply causation, and adjustments for confounding factors are often overlooked. In this scenario, large-scale studies based on high-quality clinical trial data can provide more reliable evidence. It is essential to avoid oversimplification by focusing on a single biomarker, as the interactions among multiple factors contribute to define the disease course and patient's outcome. Furthermore, implementing well-supported evidence in real-life settings can help advance prognostic biomarker research in melanoma.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"49-66"},"PeriodicalIF":5.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139706427","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}
Kleita Michaelidou, Ioannis Karniadakis, Varvara Pantelaion, Chara Koutoulaki, Eleni Boukla, Konstantinos Folinas, Pantelis Dimaras, Maria A Papadaki, Anastasios V Koutsopoulos, Dimitrios Mavroudis, Christine Vourlakou, Konstantinos Mavridis, Sofia Agelaki
{"title":"Rapid and reliable testing for clinically actionable EGFR mutations in non-small cell lung cancer using the Idylla<sup>TM</sup> platform: a real-world two-center experience in Greece.","authors":"Kleita Michaelidou, Ioannis Karniadakis, Varvara Pantelaion, Chara Koutoulaki, Eleni Boukla, Konstantinos Folinas, Pantelis Dimaras, Maria A Papadaki, Anastasios V Koutsopoulos, Dimitrios Mavroudis, Christine Vourlakou, Konstantinos Mavridis, Sofia Agelaki","doi":"10.1080/14737159.2024.2303320","DOIUrl":"10.1080/14737159.2024.2303320","url":null,"abstract":"<p><strong>Background: </strong>Limited information exists on epidermal growth factor receptor <i>(EGFR)</i> molecular epidemiology in Greece. Next-generation sequencing (NGS) is the recommended method for <i>EGFR</i> genotyping in NSCLC. The Idylla Biocartis platform is a fully automated system for actionable <i>EGFR</i> mutation detection.</p><p><strong>Research design and methods: </strong>We describe the prevalence of EGFR mutations in NSCLC patients in two high-volume clinical centers in Greece and compare key methods used for their determination. Eight hundred and fifty-seven FFPE samples from NSCLC patients were tested for EGFR mutations at University of Crete (UoC; <i>n</i> = 324) and at Evangelismos Hospital, Athens (Evangelismos; <i>n</i> = 503).</p><p><strong>Results: </strong>The prevalence of <i>EGFR</i> mutations was 11.1% in the whole cohort (11.5% in non-squamous). The detection rate was 11.0% by NGS, 9.8% by Sanger and 11.3% by Idylla for the whole cohort (12.0% in non-squamous). The agreement between Idylla and Sanger was 93.2%. A targetable <i>EGFR</i> mutation was detected in 10.0% using tissue NGS alone, and in 16.0% using concurrent Idylla ct<i>EGFR</i> testing.</p><p><strong>Conclusion: </strong>The frequency of <i>EGFR</i> mutations was as expected for a Caucasian population. The Idylla <i>EGFR</i> test performance is comparable to reference methods and with a shorter TAT. Adding a concurrent plasma Idylla test to tissue NGS testing increases the detection rate of <i>EGFR</i> mutations in NSCLC.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"89-98"},"PeriodicalIF":5.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139402518","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}
Maureen Sampson, Anna Wolska, Rafael Zubiran, Justine Cole, Marcelo Amar, Alan T Remaley
{"title":"Optimization of time interval for the measurement of plasma lipids for cardiovascular disease risk assessment.","authors":"Maureen Sampson, Anna Wolska, Rafael Zubiran, Justine Cole, Marcelo Amar, Alan T Remaley","doi":"10.1080/14737159.2024.2306127","DOIUrl":"10.1080/14737159.2024.2306127","url":null,"abstract":"<p><strong>Background: </strong>Lipid testing for atherosclerotic cardiovascular disease (ASCVD) risk is often performed every 4-6 years, but we hypothesized that the optimum time interval may vary depending on baseline risk.</p><p><strong>Research design and methods: </strong>Using lipid values and other risk factors from the National Health and Nutrition Examination Survey (NHANES) (<i>n</i> = 9,704), we calculated a 10-year risk score with the pooled-cohort equations. Future risk scores were predicted by increasing age and projecting systolic blood pressure (SBP) and lipid changes, using the mean-percentile age group change in NHANES for SBP (<i>n</i> = 17,329) and the Lifelines Cohort study for lipids (<i>n</i> = 133,540). The crossing of high and intermediate-risk thresholds were calculated by time to determine optimum intervals for lipid testing.</p><p><strong>Results: </strong>Time to crossing risk thresholds depends on baseline risk, but the mean increase in the risk score plateaus at 1% per year for those with a baseline 10-year risk greater than 15%. Based on these findings, we recommend the following maximum time intervals for lipid testing: baseline risk < 15%: 5-years, 16%: 4-years, 17%: 3-years, 18%: 2-years, and 19%: ≤1-year.</p><p><strong>Conclusions: </strong>Testing patients for lipids who have a higher baseline risk more often could identify high-risk patients sooner, allowing for earlier and more effective therapeutic intervention.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"123-133"},"PeriodicalIF":3.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10922749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139519562","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}
Firas Kobeissy, Rawad Daniel Arja, Jennifer C Munoz, Deborah A Shear, Janice Gilsdorf, Jiepei Zhu, Hamad Yadikar, William Haskins, J Adrian Tyndall, Kevin K Wang
{"title":"The game changer: UCH-L1 and GFAP-based blood test as the first marketed in vitro diagnostic test for mild traumatic brain injury.","authors":"Firas Kobeissy, Rawad Daniel Arja, Jennifer C Munoz, Deborah A Shear, Janice Gilsdorf, Jiepei Zhu, Hamad Yadikar, William Haskins, J Adrian Tyndall, Kevin K Wang","doi":"10.1080/14737159.2024.2306876","DOIUrl":"10.1080/14737159.2024.2306876","url":null,"abstract":"<p><strong>Introduction: </strong>Major organ-based in vitro diagnostic (IVD) tests like ALT/AST for the liver and cardiac troponins for the heart are established, but an approved IVD blood test for the brain has been missing, highlighting a gap in medical diagnostics.</p><p><strong>Areas covered: </strong>In response to this need, Abbott Diagnostics secured FDA clearance in 2021 for the i-STAT Alinity™, a point-of-care plasma blood test for mild traumatic brain injury (TBI). BioMerieux VIDAS, also approved in Europe, utilizes two brain-derived protein biomarkers: neuronal ubiquitin C-terminal hydrolase-L1 (UCH-L1) and glial fibrillary acidic protein (GFAP). These biomarkers, which are typically present in minimal amounts in healthy individuals, are instrumental in diagnosing mild TBI with potential brain lesions. The study explores how UCH-L1 and GFAP levels increase significantly in the bloodstream following traumatic brain injury, aiding in early and accurate diagnosis.</p><p><strong>Expert opinion: </strong>The introduction of the i-STAT Alinity™ and the Biomerieux VIDAS TBI blood tests mark a groundbreaking development in TBI diagnosis. It paves the way for the integration of TBI biomarker tools into clinical practice and therapeutic trials, enhancing the precision medicine approach by generating valuable data. This advancement is a critical step in addressing the long-standing gap in brain-related diagnostics and promises to revolutionize the management and treatment of mild TBI.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"67-77"},"PeriodicalIF":5.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139563204","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}
{"title":"Multi-omics and single-cell sequencing analyses reveal the potential significance of circadian pathways in cancer therapy.","authors":"Hao Lai, Xiaoyun Xiang, Xingqing Long, Zuyuan Chen, Yanling Liu, Xiaoliang Huang","doi":"10.1080/14737159.2023.2296668","DOIUrl":"10.1080/14737159.2023.2296668","url":null,"abstract":"<p><strong>Background: </strong>Circadian rhythm disturbance is an independent risk factor for cancer. However, few studies have been reported on circadian rhythm related genes (CRGs) in cancer, so it is important to further explore the impact of CRGs in pan-cancer.</p><p><strong>Research design and methods: </strong>The Cancer Genome Atlas database was used to collect cancer-related data such as copy number variation, single nucleotide variants, methylation, and survival differences. Immunohistochemistry (IHC) was used to verify the expression of circadian rhythm hub genes. The circadian pathway scores (CRS) were calculated using single-sample gene enrichment analysis. TIMER and GEPIA databases were used for immune-cell integration and assessment. Single-cell sequencing data was used to evaluate the abundance of CRS in tumor microenvironment cells.</p><p><strong>Results: </strong>In this study, we found that the expression of circadian pathway varies between tumors. CSNK1E was significantly up-regulated in most tumors and CRY2 was significantly down-regulated in most tumors. The protein interaction network suggested CRY2 as the core gene and IHC verified its significant low expression in KIRC. In addition, CRGs were found to be protective factors in most tumors and have the potential to act as specific immune markers in different tumors. CRS was significantly lower in abundance in most tumors. CRS was significantly associated with overall survival in tumor patients and associated with the expression of many immune cells in the tumor immune microenvironment. CRS is significantly associated with tumor mutational burden and microsatellite instability scores in most tumors and may serve as a potential immunotherapeutic marker.</p><p><strong>Conclusions: </strong>The circadian rhythm pathway may be a breakthrough point in regulating the tumor microenvironment meanwhile a suitable immunotherapy method in the future.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"107-121"},"PeriodicalIF":5.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139574664","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}
Rashi Dixit, Naveen Kumar Kodali, Manisha Biswal, John Antony Jude Prakash, Natarajan Gopalan, Padma Das, Sujit Kumar Behera
{"title":"Polymerase Spiral Reaction (PSR) as a point-of-care diagnostic assay: A systematic review.","authors":"Rashi Dixit, Naveen Kumar Kodali, Manisha Biswal, John Antony Jude Prakash, Natarajan Gopalan, Padma Das, Sujit Kumar Behera","doi":"10.1080/14737159.2024.2315286","DOIUrl":"10.1080/14737159.2024.2315286","url":null,"abstract":"<p><strong>Introduction: </strong>The current systematic review aimed to collect and analyze the comprehensive evidence regarding Polymerase Spiral Reaction (PSR) and to estimate its diagnostic performance and usefulness as a point-of-care (PoC) assay.</p><p><strong>Methods: </strong>Literature was retrieved systematically from 2015 to 2023 from PubMed and Scopus. Studies were screened and selected against pre-determined inclusion and exclusion criteria. Quality assessment and risk of bias were critiqued using QUADAS-2. A systematic, qualitative narrative synthesis was employed to synthesize the data.</p><p><strong>Results: </strong>11 studies were selected for the systematic review, testing diseases in humans utilizing PSR. Only 2 studies clinically validated the test with a sample size > 150. 5 studies were of poor quality; 3 studies were of moderate quality and 3 studies were deemed to be of high quality. 3 studies quantified the diagnostic throughput and reported clinical sensitivity and specificity of PSR approaching to be > 92% and ~ 100%, respectively.</p><p><strong>Conclusion: </strong>Polymerase spiral reaction promises to be an optimistic isothermal assay; however, a huge research gap can be attributed to the lack of statistical and clinical evidence to validate the assay. Adequate research, focused on optimization, coupled with statistical and clinical validation, can help in estimating its true diagnostic potential and applicability.</p><p><strong>Registration and protocol: </strong>A detailed protocol of this review is registered and available in Prospero (registration number CRD42023406265).</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"79-88"},"PeriodicalIF":3.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139702172","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}