Extracellular vesicles (EVs) derived from urine are promising tools for the diagnosis of urogenital cancers. Urinary EVs (uEVs) are considered potential biomarkers for bladder cancer (BC) because urine is in direct contact with the BC tumor microenvironment and thus reflects the current state of the disease. However, challenges associated with the effective isolation and analysis of uEVs complicate the clinical detection of uEV-associated protein biomarkers. Herein, we identified uEV-derived alpha-2-macroglobulin (a2M) as a novel diagnostic biomarker for BC through comparative analysis of uEVs obtained from patients with BC pre- and post-operation using an antibody array. Furthermore, enzyme-linked immunosorbent assay of uEVs isolated from patients with BC (n=60) and non-cancer control subjects (n=23) validated the significant upregulation of a2M expression in patient uEVs (p<0.0001). There was no significant difference in whole urine a2M levels between patients with BC and controls (p=0.317). We observed that compared to classical differential centrifugation, ExoDisc, a centrifugal microfluidic tangential flow filtration device, was a significantly more effective separation method for uEV protein analysis. We expect that our approach for EV analysis will provide an efficient route for the identification of clinically meaningful uEV-based biomarkers for cancer diagnosis.
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http://dx.doi.org/10.3389/fonc.2022.976407 | DOI Listing |
Cancer Rep (Hoboken)
January 2025
Department of Biology, College of Sciences, Shiraz University, Shiraz, Iran.
Background: The breakthrough discovery of novel biomarkers with prognostic and diagnostic value enables timely medical intervention for the survival of patients diagnosed with gastric cancer (GC). Typically, in studies focused on biomarker analysis, highly connected nodes (hubs) within the protein-protein interaction network (PPIN) are proposed as potential biomarkers. However, this study revealed an unexpected finding following the clustering of network nodes.
View Article and Find Full Text PDFAdv Sci (Weinh)
January 2025
State Key Laboratory of Oncology in South China, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center, Sun Yat-sen University, Guangzhou, 510060, P. R. China.
Nasopharyngeal carcinoma (NPC) is an Asia-prevalent malignancy, yet its genetic underpinnings remain incompletely understood. Here, a transcriptome-wide association study (TWAS) is conducted on NPC, leveraging gene expression prediction models based on epithelial tissues and genome-wide association study (GWAS) summary statistics from 1577 NPC cases and 6359 controls of southern Chinese descent. The TWAS identifies VAMP8 on chromosome 2p11.
View Article and Find Full Text PDFMov Disord
January 2025
British Columbia Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.
Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.
Mol Genet Genomic Med
January 2025
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Background: The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life-threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes.
View Article and Find Full Text PDFCancer Rep (Hoboken)
January 2025
Department of Thoracic Surgery, Affiliated Hospital of Zunyi Medical College, Zunyi, People's Republic of China.
Background: Neuroendocrine tumors of the thymus (NETT) are rare and malignant tumors that arise in the anterior mediastinum. These tumors can exhibit aggressive behavior and may involve surrounding critical structures, such as the superior vena cava. This case contributes to the literature by presenting a recurrent thymic carcinoma with invasion of major blood vessels, including the superior vena cava, and the complexities involved in its surgical management.
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