Expert Review of Molecular Diagnostics最新文献_第10页

Point-of-care isothermal nucleic acid amplification tests: progress and bottlenecks for extraction-free sample collection and preparation. 护理点等温核酸扩增检验：免提取样本采集和制备的进展与瓶颈。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-06-01 Epub Date: 2024-07-08 DOI: 10.1080/14737159.2024.2375233

Alexis F Wilkinson, Maria J Barra, Emilie N Novak, Meaghan Bond, Rebecca Richards-Kortum

{"title":"Point-of-care isothermal nucleic acid amplification tests: progress and bottlenecks for extraction-free sample collection and preparation.","authors":"Alexis F Wilkinson, Maria J Barra, Emilie N Novak, Meaghan Bond, Rebecca Richards-Kortum","doi":"10.1080/14737159.2024.2375233","DOIUrl":"10.1080/14737159.2024.2375233","url":null,"abstract":"Introduction: Suitable sample collection and preparation methods are essential to enable nucleic acid amplification testing at the point of care (POC). Strategies that allow direct isothermal nucleic acid amplification testing (iNAAT) of crude sample lysate without the need for nucleic acid extraction minimize time to result as well as the need for operator expertise and costly infrastructure.Areas covered: The authors review research to understand how sample matrix and preparation affect the design and performance of POC iNAATs. They focus on approaches where samples are directly combined with liquid reagents for preparation and amplification via iNAAT strategies. They review factors related to the type and method of sample collection, storage buffers, and lysis strategies. Finally, they discuss RNA targets and relevant regulatory considerations.Expert opinion: Limitations in sample preparation methods are a significant technical barrier preventing implementation of nucleic acid testing at the POC. The authors propose a framework for co-designing sample preparation and amplification steps for optimal performance with an extraction-free paradigm by considering a sample matrix and lytic strategy prior to an amplification assay and readout. In the next 5 years, the authors anticipate increasing priority on the co-design of sample preparation and iNAATs.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"509-524"},"PeriodicalIF":3.9,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11514575/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141554492","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}

引用次数: 0

A novel anoikis-related signature predicts prognosis risk and treatment responsiveness in diffuse large B-cell lymphoma. 预测弥漫大 B 细胞淋巴瘤预后风险和治疗反应性的新型 anoikis 相关特征。

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-05-01 Epub Date: 2024-05-11 DOI: 10.1080/14737159.2024.2351465

Mingze Guan, Hua Zhao, Qi Zhang, Li Li, Xiaobo Wang, Bo Tang

{"title":"A novel anoikis-related signature predicts prognosis risk and treatment responsiveness in diffuse large B-cell lymphoma.","authors":"Mingze Guan, Hua Zhao, Qi Zhang, Li Li, Xiaobo Wang, Bo Tang","doi":"10.1080/14737159.2024.2351465","DOIUrl":"10.1080/14737159.2024.2351465","url":null,"abstract":"Background: Although anoikis plays a role in cancer metastasis and aggressiveness, it has rarely been reported in diffuse large B cell lymphoma (DLBCL).Methods: We obtained RNA sequencing data and matched clinical data from the GEO database. An anoikis-related genes (ARGs)-based risk signature was developed in GSE10846 training cohort and validated in three other cohorts. Additionally, we predicted half-maximal inhibitory concentration (IC50) of drugs based on bioinformatics method and obtained the actual IC50 to some chemotherapy drugs via cytotoxicity assay.Results: The high-risk group, as determined by our signature, was associated with worse prognosis and an immunosuppressive environment in DLBCL. Meanwhile, the nomogram based on eight variables had more accurate ability in forecasting the prognosis than the international prognostic index in DLBCL. The prediction of IC50 indicated that DLBCL patients in the high-risk group were more sensitive to doxorubicin, IPA-3, lenalidomide, gemcitabine, and CEP.701, while patients in the low-risk group were sensitive to cisplatin and dasatinib. Consistent with the prediction, cytotoxicity assay suggested the higher sensitivity to doxorubicin and gemcitabine and the lower sensitivity to dasatinib in the high-risk group in DLBCL.Conclusion: The ARG-based signature may provide a promising direction for prognosis prediction and treatment optimization for DLBCL patients.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"439-457"},"PeriodicalIF":5.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140852498","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

Genomic determinants of biological aggressiveness and poor prognosis of pancreatic cancers: KRAS and beyond. 胰腺癌生物侵袭性和不良预后的基因组决定因素：KRAS 及其他

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-05-01 Epub Date: 2024-05-06 DOI: 10.1080/14737159.2024.2348676

Calogero Ciulla, Claudio Luchini

{"title":"Genomic determinants of biological aggressiveness and poor prognosis of pancreatic cancers: KRAS and beyond.","authors":"Calogero Ciulla, Claudio Luchini","doi":"10.1080/14737159.2024.2348676","DOIUrl":"10.1080/14737159.2024.2348676","url":null,"abstract":"Introduction: A marked histomolecular heterogeneity characterizes pancreatic cancer. Thus, different tumor histologies with divergent genomic profiles exist within the same category.Areas covered: Using data from PubMed, SCOPUS, and Embase (last search date: 04/04/2024), this expert-based, narrative review presents and discusses the essential molecular determinants of biological aggressiveness and poor prognosis in pancreatic cancer. First, KRAS mutation still represents one of the most critical difficulties in treating pancreatic cancers. In this district, it is mutated in > 90% of malignant tumors. Notably, actionable alterations for molecular-based therapies are typically lacking in KRAS-mutated pancreatic cancer. Furthermore, transcriptome-based studies clarified that the squamous phenotype is characterized by poorer prognosis and response to standard chemotherapy. We also discuss molecular biomarkers related to dismal prognosis in specific subsets of pancreatic cancer, such as SMAD4 in signet-ring cell carcinoma and TP53 in invasive cancers derived from intraductal tubulopapillary neoplasms.Expert opinion: The identification of the subgroups of pancreatic cancer with particularly unfavorable prognoses is a critical step for addressing specific research efforts. In addition to implementing and strengthening current precision oncology strategies, the decisive step for improving the survival of patients affected by pancreatic cancer must pass through targeting the KRAS gene.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"355-362"},"PeriodicalIF":5.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140861703","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

Performance of noninvasive prenatal screening for fetal sex chromosome aneuploidies in a cohort of 116,862 pregnancies. 在 116,862 例妊娠中对胎儿性染色体非整倍体进行无创产前筛查的结果。

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-05-01 Epub Date: 2024-03-25 DOI: 10.1080/14737159.2024.2333951

Yanfei Xu, Jianbo Lou, Yeqing Qian, Pengzhen Jin, Yangwen Qian, Jiawei Hong, Yuqing Xu, Yixuan Yin, Songjia Yi, Minyue Dong

{"title":"Performance of noninvasive prenatal screening for fetal sex chromosome aneuploidies in a cohort of 116,862 pregnancies.","authors":"Yanfei Xu, Jianbo Lou, Yeqing Qian, Pengzhen Jin, Yangwen Qian, Jiawei Hong, Yuqing Xu, Yixuan Yin, Songjia Yi, Minyue Dong","doi":"10.1080/14737159.2024.2333951","DOIUrl":"10.1080/14737159.2024.2333951","url":null,"abstract":"Background: Noninvasive prenatal screening (NIPS) has shown good performance in screening common aneuploidies. However, its performance in detecting fetal sex chromosome aneuploidies (SCAs) needs to be evaluated in a large cohort.Research design and methods: In this retrospective observation, a total of 116,862 women underwent NIPS based on DNA nanoball sequencing from 2015 to 2022. SCAs were diagnosed based on karyotyping or chromosomal microarray analysis (CMA). Among them, 2,084 singleton pregnancies received karyotyping and/or CMA. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of NIPS for fetal SCAs were evaluated.Results: The sensitivity was 97.7% (95%CI, 87.7-99.9), 87.3% (95% CI, 76.5-94.4), 96.1% (95%CI, 86.5-99.5), and 95.7% (95% CI, 78.1-99.9), the PPV was 25.8% (95%CI, 19.2-33.2), 80.9% (95%CI, 69.5-89.4), 79.0% (95%CI, 66.8-88.3), and 53.7% (95%CI, 37.4-69.3) for 45,X, 47,XXY, 47,XXX, and 47,XYY, respectively. The specificity was 94.1% (95%CI, 93.0-95.1) for 45,X, and more than 99.0% for sex chromosome trisomy (SCT). The NPV was over 99.0% for all.Conclusions: NIPS screening for fetal SCAs has high sensitivity, specificity and NPV. The PPV of SCAs was moderate, but that of 45,X was lower than that of SCTs. Invasive prenatal diagnosis should be recommended for high-risk patients.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"467-472"},"PeriodicalIF":5.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140206551","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

Association between NUDT17 polymorphisms and breast cancer risk. NUDT17 多态性与乳腺癌风险之间的关系。

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-05-01 Epub Date: 2024-05-17 DOI: 10.1080/14737159.2024.2353700

Junhui Han, Jing Liang, Wenqian Zhou, Man Zhang, Tianbo Jin

{"title":"Association between NUDT17 polymorphisms and breast cancer risk.","authors":"Junhui Han, Jing Liang, Wenqian Zhou, Man Zhang, Tianbo Jin","doi":"10.1080/14737159.2024.2353700","DOIUrl":"10.1080/14737159.2024.2353700","url":null,"abstract":"Background: Breast cancer (BC) is the leading cause of cancer death among women worldwide. The nudix hydrolase 17 (NUDT17) may play notable roles in cancer growth and metastasis. In this study, we explored the importance of NUDT17 gene polymorphism in patients with BC.Methods: In our study, 563 BC patients and 552 healthy controls participated. We used logistic regression analysis to calculate odds ratios (OR) and 95% confidence intervals (CI), and multifactor dimension reduction (MDR) analysis of SNP-SNP interactions. Finally, UALCAN and THPA databases were used for bioinformatics analysis.Results: The rs9286836 G allele was associated with a decreased the BC risk (p = 0.022), and the carriers of rs2004659 G allele had a 32% decreased risk of BC than individuals with allele A (p = 0.004). In the four genetic models, rs9286836 and rs2004659 reduced the risk of BC. Additionally, we found that the NUDT17 SNPs were associated with BC risk under age, tumor size, and clinical stage stratification. The MDR analysis showed that the five-locus interaction model was the best in the multi-locus model.Conclusion: Our study found that NUDT17 single nucleotide polymorphisms are associated with BC susceptibility in Chinese Han population.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"459-466"},"PeriodicalIF":5.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140956671","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

Practical considerations for pathological diagnosis and molecular profiling of cholangiocarcinoma: an expert review for best practices. 胆管癌病理诊断和分子图谱分析的实用注意事项：最佳实践专家评论。

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-05-01 Epub Date: 2024-05-16 DOI: 10.1080/14737159.2024.2353696

Matt Evans, Timothy Kendall

{"title":"Practical considerations for pathological diagnosis and molecular profiling of cholangiocarcinoma: an expert review for best practices.","authors":"Matt Evans, Timothy Kendall","doi":"10.1080/14737159.2024.2353696","DOIUrl":"10.1080/14737159.2024.2353696","url":null,"abstract":"Introduction: Advances in precision medicine have expanded access to targeted therapies and demand for molecular profiling of cholangiocarcinoma (CCA) patients in routine clinical practice. However, pathologists face challenges in establishing a definitive intrahepatic CCA (iCCA) diagnosis while preserving sufficient tissue for molecular profiling. Additionally, they frequently face challenges in optimal tissue handling to preserve nucleic acid integrity.Areas covered: This article first identifies the challenges in establishing a definitive diagnosis of iCCA in a lesional liver biopsy while preserving sufficient tissue for molecular profiling. Then, the authors explore the clinical value of molecular profiling, the basic principles of single gene and next-generation sequencing (NGS) techniques, and the challenges in tissue sampling for genomic testing. They also propose an algorithm for best practice in tissue management for molecular profiling of CCA.Expert opinion: Several practical challenges face pathologists during tissue sampling and processing for molecular profiling. Optimized tissue processing, careful tissue handling, and selection of appropriate approaches to molecular testing are essential to ensure that the highest possible quality of diagnostic information is provided in the greatest proportion of cases.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"393-408"},"PeriodicalIF":5.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944435","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

Sample-to-result molecular diagnostic platforms and their suitability for infectious disease testing in low- and middle-income countries. 样本到结果分子诊断平台及其对中低收入国家传染病检测的适用性。

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-05-01 Epub Date: 2024-05-15 DOI: 10.1080/14737159.2024.2353690

Anne Hauner, Chukwuemeka Onwuchekwa, Kevin K Ariën

{"title":"Sample-to-result molecular diagnostic platforms and their suitability for infectious disease testing in low- and middle-income countries.","authors":"Anne Hauner, Chukwuemeka Onwuchekwa, Kevin K Ariën","doi":"10.1080/14737159.2024.2353690","DOIUrl":"10.1080/14737159.2024.2353690","url":null,"abstract":"Introduction: Diagnostics are an essential, undervalued part of the health-care system. For many diseases, molecular diagnostics are the gold standard, but are not easy to implement in Low- and Middle-Income Countries (LMIC). Sample-to-result (S2R) platforms combining all procedures in a closed system could offer a solution. In this paper, we investigated their suitability for implementation in LMIC.Areas covered: A scorecard was used to evaluate different platforms on a range of parameters. Most platforms scored fairly on the platform itself, ease-of-use and test consumables; however, shortcomings were identified in cost, distribution and test panels tailored to LMIC needs. The diagnostic coverage for common infectious diseases was found to have a wider coverage in high-income countries (HIC) than LMIC. A literature study showed that in LMIC, these platforms are mainly used as diagnostic tools or evaluation of diagnostic performance, with a minority assessing the operational characteristics or the clinical utility. In this narrative review, we identified various points for adaptation of S2R platforms to LMIC conditions.Expert opinion: For S2R platforms to be suitable for implementation in LMIC some modifications by the manufacturers could be considered. Furthermore, strengthening health systems and digitalization are vital; as are smaller, cheaper, faster, and sustainable technologies.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"423-438"},"PeriodicalIF":5.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140921852","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

Prognostic biomarkers in melanoma: a 2023 update from clinical trials in different therapeutic scenarios. 黑色素瘤的预后生物标志物：2023 年不同治疗方案临床试验的最新进展。

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-05-01 Epub Date: 2024-05-13 DOI: 10.1080/14737159.2024.2347484

Gabriele Roccuzzo, Cristina Sarda, Valentina Pala, Simone Ribero, Pietro Quaglino

{"title":"Prognostic biomarkers in melanoma: a 2023 update from clinical trials in different therapeutic scenarios.","authors":"Gabriele Roccuzzo, Cristina Sarda, Valentina Pala, Simone Ribero, Pietro Quaglino","doi":"10.1080/14737159.2024.2347484","DOIUrl":"10.1080/14737159.2024.2347484","url":null,"abstract":"Introduction: Over the past decade, significant advancements in the field of melanoma have included the introduction of a new staging system and the development of immunotherapy and targeted therapies, leading to changes in substage classification and impacting patient prognosis. Despite these strides, early detection remains paramount. The quest for dependable prognostic biomarkers is ongoing, given melanoma's unpredictable nature, especially in identifying patients at risk of relapse. Reliable biomarkers are critical for informed treatment decisions.Areas covered: This review offers a comprehensive review of prognostic biomarkers in the context of clinical trials for immunotherapy and targeted therapy. It explores different clinical scenarios, including adjuvant, metastatic, and neo-adjuvant settings. Key findings suggest that tumor mutational burden, PD-L1 expression, IFN-γ signature, and immune-related factors are promising biomarkers associated with improved treatment responses.Expert opinion: Identifying practical prognostic factors for melanoma therapy is challenging due to the tumor's heterogeneity. Promising biomarkers include tumor mutational burden (TMB), circulating tumor DNA, and those characterizing the tumor microenvironment, especially the immune component. Future research should prioritize large-scale, prospective studies to validate and standardize these biomarkers, emphasizing clinical relevance and real-world applicability. Easily accessible biomarkers have the potential to enhance the precision and effectiveness of melanoma management.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"379-392"},"PeriodicalIF":5.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912088","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 utilization of airway inflammatory biomarkers in the prediction and monitoring of clinical outcomes in patients with chronic obstructive pulmonary disease 气道炎症生物标志物在预测和监测慢性阻塞性肺病患者临床结果中的临床应用

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-04-18 DOI: 10.1080/14737159.2024.2344777

Dina Yehia, Clarus Leung, Don D. Sin

引用次数: 0

The emerging role of liquid biopsy in oral squamous cell carcinoma detection: advantages and challenges 液体活检在口腔鳞状细胞癌检测中的新兴作用：优势与挑战

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-04-12 DOI: 10.1080/14737159.2024.2340997

Sudha Gupta, Brijesh Singh, Rajul Abhishek, Sameer Gupta, Manisha Sachan

引用次数: 0