Molecular Diagnosis & Therapy最新文献

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Blood Biomarkers of Long COVID: A Systematic Review. 长 COVID 的血液生物标志物:系统综述。
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2024-09-01 Epub Date: 2024-08-05 DOI: 10.1007/s40291-024-00731-z
Callum Thomas, Mark A Faghy, Corinna Chidley, Bethan E Phillips, Thomas Bewick, Ruth E Ashton
{"title":"Blood Biomarkers of Long COVID: A Systematic Review.","authors":"Callum Thomas, Mark A Faghy, Corinna Chidley, Bethan E Phillips, Thomas Bewick, Ruth E Ashton","doi":"10.1007/s40291-024-00731-z","DOIUrl":"10.1007/s40291-024-00731-z","url":null,"abstract":"<p><strong>Background: </strong>Long coronavirus disease (COVID; LC) affects millions of people worldwide. The exact mechanisms which result in a broad, undulating and detrimental symptom profile remain unknown. Blood biomarkers associated with LC have been described; however, consensus on these remains elusive, in part due to a lack of continuity between studies on a universally accepted definition of LC. This systematic review aimed to consolidate current knowledge of blood biomarkers associated with the prevalence of LC on the basis of the World Health Organisation (WHO) clinical definition of this condition.</p><p><strong>Eligibility criteria for selecting studies: </strong>Observational, cross-sectional, and randomised control studies published in the English language that studied blood biomarkers associated with the WHO definition of LC. All studies included participants who were ≥ 18 years old and group sizes ≥ 10 participants, and were compared against a control group without any known co-morbidities.</p><p><strong>Methods: </strong>A systematic literature search was conducted according to Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines and prospectively registered on Prospero (ID: CRD42022373121). The Cochrane, Embase, PubMed and Web of Science databases were searched from inception to January 2024. Search results were gathered using Rayyan software and data extracted using Microsoft Excel. The reporting recommendations for tumour markers prognostic studies (REMARK) questionnaire was used to assess the quality of the included studies.</p><p><strong>Results: </strong>A total of 45 observational and one interventional study comprising 4415 participants were included in this review which identified 525 blood biomarkers thought to be associated with LC. Three blood biomarker subtypes were associated with the development of LC: (1) immunological and inflammatory dysfunction, (2) endothelial/vascular dysfunction and (3) metabolic and clotting abnormalities.</p><p><strong>Discussion and conclusions: </strong>Our data are consistent with previous findings; however, no single biomarker was sufficiently associated with LC prevalence and instead a profile of biomarkers across various physiological systems may be more clinically useful. In all, 196 studies were excluded due to a lack of an adequately healthy comparator group and/or failure to meet the WHO LC definition. This demonstrates a need for further research incorporating a universal LC definition across all disease severity groups and symptom profiles, and longitudinal data reflecting the relapsing and remitting nature of this condition. Further investigation into blood biomarkers of LC, including clear reporting of healthy comparator groups and the investigation of acute and chronic biomarker changes, within the context of medical practice, may support the development of curative/restorative approaches.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894735","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
Papillary Thyroid Carcinoma: Correlation Between Molecular and Clinical Features. 甲状腺乳头状癌:分子特征与临床特征之间的相关性
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2024-09-01 Epub Date: 2024-06-19 DOI: 10.1007/s40291-024-00721-1
Qiang Wang, Bo Yu, Shuilong Zhang, Dongliang Wang, Zhifu Xiao, Hongjing Meng, Lingxiang Dong, Yuhang Zhang, Jie Wu, Zebin Hou, Yunji Zhu, Dewei Li
{"title":"Papillary Thyroid Carcinoma: Correlation Between Molecular and Clinical Features.","authors":"Qiang Wang, Bo Yu, Shuilong Zhang, Dongliang Wang, Zhifu Xiao, Hongjing Meng, Lingxiang Dong, Yuhang Zhang, Jie Wu, Zebin Hou, Yunji Zhu, Dewei Li","doi":"10.1007/s40291-024-00721-1","DOIUrl":"10.1007/s40291-024-00721-1","url":null,"abstract":"<p><strong>Background: </strong>Thyroid cancer is prevalent worldwide, including in China, where its incidence is on the rise. Papillary thyroid carcinoma (PTC) is the predominant subtype. Investigating the relationship between clinical data associated with PTC and gene mutations is crucial for improving detection and treatment.</p><p><strong>Patients and methods: </strong>We collected samples and associated clinical data from 700 PTC patients at Shanxi Provincial People's Hospital. Using a panel of 57 genes linked to thyroid cancer, we sequenced the samples to determine the mutation frequency of thyroid cancer-associated genes in PTC. We further analyzed the correlation between gene variants and clinical information.</p><p><strong>Results: </strong>The mean age of patients in this study was 42.5 years. Females predominated, comprising 507 of the total patient population, resulting in a female-to-male ratio of 2.63 (507:193). Tumor distribution revealed 198, 257, and 142 cases on the left, right, and both sides, respectively. Among the 57 thyroid cancer-related genes analyzed, we identified at least one driver gene in 83.6% of patients. Notably, 76.4% had BRAF mutations, mainly BRAF<sup>V600E</sup>, which constituted 90.9% of all BRAF mutations, with 535 cases exhibiting these mutations. Other significant driver genes included CHEK2 (n = 84), RET (n = 42), PIK3CA (n = 7), and EGFR (n = 7). RET fusions (n = 28) were also identified. Notably, patients under 55 years old exhibit a higher tendency towards advanced N staging, suggesting that younger individuals may be more prone to lymph node metastasis. Additionally, male patients were more likely to have advanced N stages. Importantly, a positive correlation was observed between higher BRAF allele frequencies and more advanced T and N stages. Similarly, correlation analysis revealed that a greater frequency of RET fusions correlated with later T and N stages.</p><p><strong>Conclusion: </strong>This study uncovered several significant insights. Younger PTC patients exhibited a higher propensity for lymph node metastasis. An elevated mutation frequency of BRAF was correlated with a higher occurrence of RET fusions, predisposing individuals to lymph node metastasis and potentially indicating a poorer prognosis.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11349796/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421645","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
Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies. 癫痫相关基因中 13 个新基因变异的特征:对靶向治疗策略的影响。
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2024-09-01 Epub Date: 2024-07-14 DOI: 10.1007/s40291-024-00720-2
Marina Andjelkovic, Kristel Klaassen, Anita Skakic, Irena Marjanovic, Ruzica Kravljanac, Maja Djordjevic, Biljana Vucetic Tadic, Bozica Kecman, Sonja Pavlovic, Maja Stojiljkovic
{"title":"Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.","authors":"Marina Andjelkovic, Kristel Klaassen, Anita Skakic, Irena Marjanovic, Ruzica Kravljanac, Maja Djordjevic, Biljana Vucetic Tadic, Bozica Kecman, Sonja Pavlovic, Maja Stojiljkovic","doi":"10.1007/s40291-024-00720-2","DOIUrl":"10.1007/s40291-024-00720-2","url":null,"abstract":"<p><strong>Background: </strong>Childhood epilepsies are caused by heterogeneous underlying disorders where approximately 40% of the origins of epilepsy can be attributed to genetic factors. The application of next-generation sequencing (NGS) has revolutionized molecular diagnostics and has enabled the identification of disease-causing genes and variants in childhood epilepsies. The objective of this study was to use NGS to identify variants in patients with childhood epilepsy, to expand the variant spectrum and discover potential therapeutic targets.</p><p><strong>Methods: </strong>In our study, 55 children with epilepsy of unknown etiology were analyzed by combining clinical-exome and whole-exome sequencing. Novel variants were characterized using various in silico algorithms for pathogenicity and structure prediction.</p><p><strong>Results: </strong>The molecular genetic cause of epilepsy was identified in 28 patients and the overall diagnostic success rate was 50.9%. We identified variants in 22 different genes associated with epilepsy that correlate well with the described phenotype. SCN1A gene variants were found in five unrelated patients, while ALDH7A1 and KCNQ2 gene variants were found twice. In the other 19 genes, variants were found only in a single patient. This includes genes such as ASH1L, CSNK2B, RHOBTB2, and SLC13A5, which have only recently been associated with epilepsy. Almost half of diagnosed patients (46.4%) carried novel variants. Interestingly, we identified variants in ALDH7A1, KCNQ2, PNPO, SCN1A, and SCN2A resulting in gene-directed therapy decisions for 11 children from our study, including four children who all carried novel SCN1A genetic variants.</p><p><strong>Conclusions: </strong>Described novel variants will contribute to a better understanding of the European genetic landscape, while insights into the genotype-phenotype correlation will contribute to a better understanding of childhood epilepsies worldwide. Given the expansion of molecular-based approaches, each newly identified genetic variant could become a potential therapeutic target.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11349789/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604405","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
Is the Homologous Recombination Repair Mutation Defined by a 15-Gene Panel Associated with the Prognosis of Epithelial Ovarian Cancer? 由 15 个基因面板定义的同源重组修复突变与上皮性卵巢癌的预后有关吗?
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2024-09-01 Epub Date: 2024-07-05 DOI: 10.1007/s40291-024-00726-w
Yi Liu, Xiaojun Chen, Huaiwu Lu, Xin Wu, Xuehan Liu, Fei Xu, Dongdong Ye, Bo Ding, Xiaoyan Lu, Ling Qiu, Jing Zhu, Yingying Wang, Xinya Huang, Zhen Shen, Tao Zhu, Yang Shen, Ying Zhou
{"title":"Is the Homologous Recombination Repair Mutation Defined by a 15-Gene Panel Associated with the Prognosis of Epithelial Ovarian Cancer?","authors":"Yi Liu, Xiaojun Chen, Huaiwu Lu, Xin Wu, Xuehan Liu, Fei Xu, Dongdong Ye, Bo Ding, Xiaoyan Lu, Ling Qiu, Jing Zhu, Yingying Wang, Xinya Huang, Zhen Shen, Tao Zhu, Yang Shen, Ying Zhou","doi":"10.1007/s40291-024-00726-w","DOIUrl":"10.1007/s40291-024-00726-w","url":null,"abstract":"<p><strong>Background: </strong>There is no consensus regarding the specific genes included in the homologous recombination repair (HRR) gene panel for identifying the HRR deficiency (HRD) status and predicting the prognosis of epithelial ovarian cancer (EOC) patients.</p><p><strong>Objective: </strong>We aimed to explore a 15-gene panel involving the HRR pathway as a predictive prognostic indicator in Chinese patients newly diagnosed with EOC.</p><p><strong>Patients and methods: </strong>We reviewed the previously published reports about different HRR gene panels and prespecified the 15-gene panel. The genetic testing results in a 15-gene panel from 308 EOC patients diagnosed between 2014 and 2022 from six centers were collected. The association of clinicopathologic characteristics, the use of poly (adenosine diphosphate-ribose) polymerase inhibitors (PARPis) and progression-free survival (PFS) with 15-gene panel HRR mutations (HRRm) status was assessed.</p><p><strong>Results: </strong>43.2% (133/308) of patients were determined to carry 144 deleterious HRRm, among which 68.1% (98/144) were germline mutations and 32.8% (101/308) were BRCA1/2 gene lethal mutations. The hazard ratio (HR) (95% confidence interval, CI) for PFS (HRRm v HRR wild type, HRRwt) using the 15-gene panel HRRm was 0.42 (0.28-0.64) at all stages and 0.42 (0.27-0.65) at stages IIIC-IV. However, a prognostic difference was observed only between the BRCA mutation group and the HRRwt group, not between the non-BRCA HRRm group and the HRRwt group. For the subgroups of patients not using PARPis, the HR (95% CI) was 0.41 (0.24-0.68) at stages IIIC-IV.</p><p><strong>Conclusions: </strong>This study provides evidence that 15-gene panel HRRm can predict the prognosis of EOC, of these only the BRCA1/2 mutations, not non-BRCA HRRm, contribute to prognosis prediction. Among patients without PARPis, the HRRm group presented a better PFS. This is the first study of this kind in the Chinese population.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535771","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
Tracking the Plasma C-Terminal Agrin Fragment as a Biomarker of Neuromuscular Decline in 18- to 87-Year-Old Men. 追踪血浆 C 端 Agrin 片段作为 18 至 87 岁男性神经肌肉衰退的生物标志物的情况
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2024-09-01 Epub Date: 2024-07-03 DOI: 10.1007/s40291-024-00724-y
Rizwan Qaisar, Asima Karim, M Shahid Iqbal, Firdos Ahmad, M Azhar Hussain
{"title":"Tracking the Plasma C-Terminal Agrin Fragment as a Biomarker of Neuromuscular Decline in 18- to 87-Year-Old Men.","authors":"Rizwan Qaisar, Asima Karim, M Shahid Iqbal, Firdos Ahmad, M Azhar Hussain","doi":"10.1007/s40291-024-00724-y","DOIUrl":"10.1007/s40291-024-00724-y","url":null,"abstract":"<p><strong>Objectives: </strong>Plasma C-terminal agrin-fragment-22 (CAF22), a breakdown product of neuromuscular junction, is a potential biomarker of muscle loss. However, its levels from adolescence to octogenarians are unknown.</p><p><strong>Methods: </strong>We evaluated young (18-34 years, n = 203), middle-aged (35-59 years, n = 163), and old men (60-87 years, n = 143) for CAF22, handgrip strength (HGS), appendicular skeletal-mass index (ASMI), and gait speed.</p><p><strong>Results: </strong>We found an age-associated increase in CAF22 from young (100.9 ± 29 pmol) to middle-aged (128.3 ± 38.7 pmol) and older men (171.5 ± 35.5 pmol) (all p<0.05). This was accompanied by a gradual reduction in HGS (37.7 ± 6.1 kg, 30.2 ± 5.2 kg, and 26.6 ± 4.7 kg, for young, middle-aged, and old men, respectively), ASMI (8.02 ± 1.02 kg/m<sup>2</sup>, 7.65 ± 0.92 kg/m<sup>2</sup>, 6.87 ± 0.93 kg/m<sup>2</sup>, for young, middle-aged, and old men, respectively), and gait speed (1.29 ± 0.24 m/s, 1.05 ± 0.16 m/s, and 0.81 ± 0.13 m/s, for young, middle-aged, and old men, respectively). After adjustment for age, we found negative regressions of CAF22 with HGS (- 0.0574, p < 0.001) and gait speed (- 0.0162, p < 0.001) in the cumulative cohort. The receiver operating characteristics analysis revealed significant efficacy of plasma CAF22 in diagnosing muscle weakness (HGS < 27 kg) (middle-aged men; AUC = 0.731, 95% CI = 0.629-0.831, p < 0.001, Older men; AUC = 0.816, 95% CI = 0.761-0.833, p < 0.001), and low gait speed (0.8 m/s) (middle-aged men; AUC = 0.737, 95% CI = 0.602-0.871, p < 0.001, older men; AUC = 0.829, 95% CI = 0.772-0.886, p < 0.001), and a modest efficacy in diagnosing sarcopenia (middle-aged men; AUC = 0.701, 95% CI = 0.536-0.865, p = 0.032, older men; AUC = 0.822, 95% CI = 0.759-0.884, p < 0.001) in middle-aged and older men.</p><p><strong>Conclusion: </strong>Altogether, CAF22 increases with advancing age and may be a reliable marker of muscle weakness and low gait speed.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141499475","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 Validity and Utility of Circulating Tumor DNA (ctDNA) Testing in Advanced Non-small Cell Lung Cancer (aNSCLC): A Systematic Literature Review and Meta-analysis. 晚期非小细胞肺癌 (aNSCLC) 循环肿瘤 DNA (ctDNA) 检测的临床有效性和实用性:系统文献综述与元分析》。
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2024-09-01 Epub Date: 2024-08-02 DOI: 10.1007/s40291-024-00725-x
Cheng Chen, Michael P Douglas, Meera V Ragavan, Kathryn A Phillips, Jeroen P Jansen
{"title":"Clinical Validity and Utility of Circulating Tumor DNA (ctDNA) Testing in Advanced Non-small Cell Lung Cancer (aNSCLC): A Systematic Literature Review and Meta-analysis.","authors":"Cheng Chen, Michael P Douglas, Meera V Ragavan, Kathryn A Phillips, Jeroen P Jansen","doi":"10.1007/s40291-024-00725-x","DOIUrl":"10.1007/s40291-024-00725-x","url":null,"abstract":"<p><strong>Purpose: </strong>Circulating tumor DNA (ctDNA) testing has become a promising tool to guide first-line (1L) targeted treatment for advanced non-small cell lung cancer (aNSCLC). This study aims to estimate the clinical validity (CV) and clinical utility (CU) of ctDNA-based next-generation sequencing (NGS) for oncogenic driver mutations to inform 1L treatment decisions in aNSCLC through a systematic literature review and meta-analysis.</p><p><strong>Methods: </strong>A systematic literature search was conducted in PubMed/MEDLINE and Embase to identify randomized control trials or observational studies reporting CV/CU on ctDNA testing in patients with aNSCLC. Meta-analyses were performed using bivariate random-effects models to estimate pooled sensitivity and specificity. Progression-free/overall survival (PFS/OS) was summarized for CU studies.</p><p><strong>Results: </strong>A total of 20 studies were identified: 17 CV only, 2 CU only, and 1 both, and 13 studies were included for the meta-analysis on multi-gene detection. The overall sensitivity and specificity for ctDNA detection of any mutation were 0.69 (95% CI 0.63-0.74) and 0.99 (95% CI 0.97-1.00), respectively. However, sensitivity varied greatly by driver gene, ranging from 0.29 (95% CI 0.13-0.53) for ROS1 to 0.77 (95% CI 0.63-0.86) for KRAS. Two studies that compared PFS with ctDNA versus tissue-based testing followed by 1L targeted therapy found no significant differences. One study reported OS curves on ctDNA-matched and tissue-matched therapies but no hazard ratios were provided.</p><p><strong>Conclusions: </strong>ctDNA testing demonstrated an overall acceptable diagnostic accuracy in patients with aNSCLC, however, sensitivity varied greatly by driver mutation. Further research is needed, especially for uncommon driver mutations, to better understand the CU of ctDNA testing in guiding targeted treatments for aNSCLC.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11349784/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141876516","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
Mycobacterium tuberculosis Detection Using CRISPR Technology: An Updated Systematic Review and Meta-analysis. 利用 CRISPR 技术检测结核分枝杆菌:最新系统综述与元分析》。
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2024-08-30 DOI: 10.1007/s40291-024-00741-x
Mohammad Abavisani, Sobhan Karbas Foroushan, Reza Khayami, Amirhossein Sahebkar
{"title":"Mycobacterium tuberculosis Detection Using CRISPR Technology: An Updated Systematic Review and Meta-analysis.","authors":"Mohammad Abavisani, Sobhan Karbas Foroushan, Reza Khayami, Amirhossein Sahebkar","doi":"10.1007/s40291-024-00741-x","DOIUrl":"https://doi.org/10.1007/s40291-024-00741-x","url":null,"abstract":"<p><strong>Background: </strong>Rapid and precise detection of Mycobacterium tuberculosis (MTB) is paramount for effective management and control of tuberculosis. Clustered regularly interspaced short palindromic repeats (CRISPR) technology has emerged as a promising tool for pathogenic diagnosis owing to its specificity and adaptability. This systematic review and meta-analysis aimed to appraise the diagnostic accuracy of CRISPR-based techniques in identifying MTB.</p><p><strong>Methods: </strong>A meticulous search was conducted in Medline, Scopus, Embase, and ISI Web of Science to retrieve relevant studies, adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Quality was assessed using the Joanna Briggs Institute checklist. Data synthesis and analyses, including subgroup analyses, were performed with R v 4.3.1, examining variables like CRISPR variants, gene targets, pre-amplification techniques, and signal readout methods.</p><p><strong>Results: </strong>From 389 identified studies, 14 met the inclusion criteria, encompassing 2175 MTB strains. The pooled sensitivity and specificity of CRISPR-based techniques were 0.93 (95% CI 0.85-0.99) and 0.97 (95% CI 0.94-0.99), respectively. The pooled diagnostic odds ratio was 273.4379 (95% CI 103.3311-723.5794), with an area under the curve of 0.97 for the summary receiver operating characteristic (SROC) curve, denoting excellent diagnostic accuracy. Subgroup analyses illustrated variations in diagnostic metrics based on factors like CRISPR variant utilized, target gene, and pre-amplification methods. For instance, CRISPR-Cas12 exhibited a sensitivity and specificity of 0.93 (95% CI 0.78-0.98) and 0.98 (95% CI 0.93-1), respectively. Moreover, this technology showed a sensitivity of 96% and specificity of 100% in detecting resistant MTB.</p><p><strong>Conclusion: </strong>CRISPR-based methods exhibit substantial diagnostic sensitivity and specificity for detecting MTB, with notable variances across different CRISPR variants and methodological approaches. Further studies must be conducted to optimize CRISPR's potential as a diagnostic tool for MTB in a variety of clinical and research settings.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114126","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
Unlocking the Complexity: Exploration of Acute Lymphoblastic Leukemia at the Single Cell Level. 揭开复杂的面纱:探索急性淋巴细胞白血病的单细胞水平。
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2024-08-27 DOI: 10.1007/s40291-024-00739-5
Margo Aertgeerts, Sarah Meyers, Sofie Demeyer, Heidi Segers, Jan Cools
{"title":"Unlocking the Complexity: Exploration of Acute Lymphoblastic Leukemia at the Single Cell Level.","authors":"Margo Aertgeerts, Sarah Meyers, Sofie Demeyer, Heidi Segers, Jan Cools","doi":"10.1007/s40291-024-00739-5","DOIUrl":"https://doi.org/10.1007/s40291-024-00739-5","url":null,"abstract":"<p><p>Acute lymphoblastic leukemia (ALL) is the most common cancer in children. ALL originates from precursor lymphocytes that acquire multiple genomic changes over time, including chromosomal rearrangements and point mutations. While a large variety of genomic defects was identified and characterized in ALL over the past 30 years, it was only in recent years that the clonal heterogeneity was recognized. Thanks to the latest advancements in single-cell sequencing techniques, which have evolved from the analysis of a few hundred cells to the analysis of thousands of cells simultaneously, the study of tumor heterogeneity now becomes possible. Different modalities can be explored at the single-cell level: DNA, RNA, epigenetic modifications, and intracellular and cell surface proteins. In this review, we describe these techniques and highlight their advantages and limitations in the study of ALL biology. Moreover, multiomics technologies and the incorporation of the spatial dimension can provide insight into intercellular communication. We describe how the different single-cell sequencing technologies help to unravel the molecular complexity of ALL, shedding light on its development, its heterogeneity, its interaction with the leukemia microenvironment and possible relapse mechanisms.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074385","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
Is There a Role for FAPI PET in Urological Cancers? FAPI PET 在泌尿系统癌症中发挥作用吗?
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2024-08-24 DOI: 10.1007/s40291-024-00735-9
Naima Ortolan, Luca Urso, Ilaria Zamberlan, Luca Filippi, Nicolò Maria Buffi, Corrado Cittanti, Licia Uccelli, Mirco Bartolomei, Laura Evangelista
{"title":"Is There a Role for FAPI PET in Urological Cancers?","authors":"Naima Ortolan, Luca Urso, Ilaria Zamberlan, Luca Filippi, Nicolò Maria Buffi, Corrado Cittanti, Licia Uccelli, Mirco Bartolomei, Laura Evangelista","doi":"10.1007/s40291-024-00735-9","DOIUrl":"https://doi.org/10.1007/s40291-024-00735-9","url":null,"abstract":"<p><p>This work aims to investigate the utility of positron emission tomography/computed tomography (PET/CT) with fibroblast activation protein inhibitors (FAPI) in urological neoplasms, including prostate cancer, urothelial carcinoma, and renal cell carcinoma. Although the available data are very preliminary, FAPI PET showed potential for detecting primary prostate cancer with low prostate-specific membrane antigen expression, while prostate-specific membrane antigen PET/CT outperformed FAPI PET/CT in detecting biochemical recurrence. In urothelial carcinoma, FAPI PET/CT demonstrated increased detection rates compared with deoxy-2-[18F]fluoro-D-glucose PET/CT, in particular in small lymph node metastases, whose identification is still an unmet clinical need. Limited data are available for renal cell carcinoma. In conclusion, FAPI PET emerges as a promising imaging modality for urological neoplasms, in particular bladder cancer. Further research is warranted to establish its role in guiding therapeutic decisions and as a potential novel theranostic agent.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142057090","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 Progresses and Challenges of Bispecific Antibodies for the Treatment of Solid Tumors. 治疗实体瘤的双特异性抗体的临床进展与挑战。
IF 4.1 3区 医学
Molecular Diagnosis & Therapy Pub Date : 2024-08-22 DOI: 10.1007/s40291-024-00734-w
Yuheng Gu, Qi Zhao
{"title":"Clinical Progresses and Challenges of Bispecific Antibodies for the Treatment of Solid Tumors.","authors":"Yuheng Gu, Qi Zhao","doi":"10.1007/s40291-024-00734-w","DOIUrl":"https://doi.org/10.1007/s40291-024-00734-w","url":null,"abstract":"<p><p>In recent years, bispecific antibodies (BsAbs) have emerged as a promising therapeutic strategy against tumors. BsAbs can recruit and activate immune cells, block multiple signaling pathways, and deliver therapeutic payloads directly to tumor sites. This review provides a comprehensive overview of the recent advances in the development and clinical application of BsAbs for the treatment of solid tumors. We discuss the different formats, the unique mechanisms of action, and the clinical outcomes of the most advanced BsAbs in solid tumor therapy. Several studies have also analyzed the clinical progress of bispecific antibodies. However, this review distinguishes itself by exploring the challenges associated with bispecific antibodies and proposing potential solutions. As the field progresses, BsAbs hold promise to redefine cancer treatment paradigms and offer new hope to patients with solid tumors.</p>","PeriodicalId":49797,"journal":{"name":"Molecular Diagnosis & Therapy","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142019337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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