Expert Review of Molecular Diagnostics最新文献_第9页

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

Tumor-infiltrating lymphocytes as a prognostic and predictive factor for Melanoma. 肿瘤浸润淋巴细胞是黑色素瘤的预后和预测因素。

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-04-01 Epub Date: 2024-02-05 DOI: 10.1080/14737159.2024.2312102

Gracia Maria Vargas, Neha Shafique, Xiaowei Xu, Giorgos Karakousis

{"title":"Tumor-infiltrating lymphocytes as a prognostic and predictive factor for Melanoma.","authors":"Gracia Maria Vargas, Neha Shafique, Xiaowei Xu, Giorgos Karakousis","doi":"10.1080/14737159.2024.2312102","DOIUrl":"10.1080/14737159.2024.2312102","url":null,"abstract":"Introduction: Tumor-infiltrating lymphocytes (TILs) have been investigated as prognostic factors in melanoma. Recent advancements in assessing the tumor microenvironment in the setting of more widespread use of immune checkpoint blockade have reignited interest in identifying predictive biomarkers. This review examines the function and significance of TILs in cutaneous melanoma, evaluating their potential as prognostic and predictive markers.Areas covered: A literature search was conducted on papers covering tumor infiltrating lymphocytes in cutaneous melanoma available online in PubMed and Web of Science from inception to 1 December 2023, supplemented by citation searching. This article encompasses the assessment of TILs, the role of TILs in the immune microenvironment, TILs as a prognostic factor, TILs as a predictive factor for immunotherapy response, and clinical applications of TILs in the treatment of cutaneous melanoma.Expert opinion: Tumor-infiltrating lymphocytes play a heterogeneous role in cutaneous melanoma. While they have historically been associated with improved survival, their status as independent prognostic or predictive factors remains uncertain. Novel methods of TIL assessment, such as determination of TIL subtypes and molecular signaling, demonstrate potential for predicting therapeutic response. Further, while their clinical utility in risk-stratification in melanoma treatment shows promise, a lack of consensus data hinders standardized application.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"299-310"},"PeriodicalIF":5.1,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11134288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139680966","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

PCR diagnostic platforms for non-Aspergillus mold infections: ready for routine implementation in the clinic? 非曲霉菌霉菌感染的 PCR 诊断平台：是否已准备好在临床上常规使用？

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-04-01 Epub Date: 2024-03-19 DOI: 10.1080/14737159.2024.2326474

Frederic Lamoth, Dimitrios P Kontoyiannis

{"title":"PCR diagnostic platforms for non-Aspergillus mold infections: ready for routine implementation in the clinic?","authors":"Frederic Lamoth, Dimitrios P Kontoyiannis","doi":"10.1080/14737159.2024.2326474","DOIUrl":"10.1080/14737159.2024.2326474","url":null,"abstract":"Introduction: While Aspergillus spp. remain the predominant cause of invasive mold infections, non-Aspergillus molds, such as the Mucorales or Fusarium spp., account for an increasing proportion of cases. The diagnosis of non-Aspergillus invasive mold infections (NAIMI) is challenging because of the low sensitivity and delay of conventional microbiological tests. Therefore, there is a particular interest to develop molecular tools for their early detection in blood or other clinical samples.Areas covered: This extensive review of the literature discusses the performance of Mucorales-specific PCR and other genus-specific or broad-range fungal PCR that can be used for the diagnosis of NAIMI in diverse clinical samples, with a focus on novel technologies.Expert opinion: PCR currently represents the most promising approach, combining good sensitivity/specificity and ability to detect NAIMI in clinical samples before diagnosis by conventional cultures and histopathology. Several PCR assays have been designed for the detection of Mucorales in particular, but also Fusarium spp. or Scedosporium/Lomentospora spp. Some commercial Mucorales PCRs are now available. While efforts are still needed for standardized protocols and the development of more rapid and simpler techniques, PCR is on the way to becoming an essential test for the early diagnosis of mucormycosis and possibly other NAIMIs.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"273-282"},"PeriodicalIF":5.1,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140157867","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 companion diagnostic testing on medical decision making and IVD regulations. 辅助诊断测试对医疗决策和 IVD 法规的影响。

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-04-01 Epub Date: 2024-02-12 DOI: 10.1080/14737159.2024.2317976

Jan Trøst Jørgensen

引用次数: 0