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The efficacy and cost-effectiveness of Multigene Panel Next-Generation Sequencing (NGS) in directing patients towards genomically matched therapies remain uncertain. This study investigated metastatic colorectal cancer (mCRC) patients who underwent NGS analysis on formalin-fixed paraffin-embedded tumor samples. Data from 179 patients were analyzed, revealing no mutations in 39 patients (21.8%), one mutation in 83 patients (46.4%), and two or more mutations in 57 patients (31.8%). mutations were found in 87 patients (48.6%), including G12C mutations in 5 patients (2.8%), mutations in 40 patients (22.4%), and mutations in 26 patients (14.5%). Less common mutations were identified: in five patients (2.8%) and in four patients (2.2%). Additionally, , , and were mutated in three patients (2.4%). Two mutations (1.1%) were observed in , , , , and . No significant survival differences were observed based on number of mutations. In total, 40% of patients had druggable molecular alterations, but only 1.1% received genomically guided treatment, suggesting limited application in standard practice. Despite this, expanded gene panel testing can identify actionable mutations, aiding personalized treatment strategies in metastatic CRC, although current eligibility for biomarker-guided trials remains limited.
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http://dx.doi.org/10.3390/ijms252011071 | DOI Listing |
PLoS One
September 2025
Department of Pharmacy, Faculty of Science, Noakhali Science and Technology University, Sonapur, Bangladesh.
Background: Overexpression of rs3761936 of DCLRE1B gene has been observed in both breast cancer and cervical cancer patients. To justify the association of this polymorphism with these cancers, we performed this case-control study.
Method: A total of 245 cancer patients and 108 healthy controls participated in the research.
Paroxysmal Nocturnal Hemoglobinuria (PNH) clones are frequently found in hypoplastic myelodysplastic syndromes (hMDS), though less commonly than in aplastic anemia. In contrast, the coexistence of hemolytic PNH with large clones and classical, hypercellular MDS (non-hMDS) is rare and likely underrecognized in clinical practice. Since 2014, 229 MDS patients have been seen at our department.
View Article and Find Full Text PDFCancer Res
September 2025
Morgridge Institute for Research, Madison, Wisconsin, United States.
Patient-derived cancer organoids (PDCOs) are a valuable model to recapitulate human disease in culture with important implications for drug development. However, current methods for rapidly and reproducibly assessing PDCOs are limited. Label-free imaging methods are a promising tool to measure organoid level heterogeneity and rapidly screen drug response in PDCOs.
View Article and Find Full Text PDFJ Appl Microbiol
September 2025
Mahatma Gandhi Medical Advanced Research Institute (MGMARI), Sri Balaji Vidyapeeth (Deemed-to-be-University), Pillaiyarkuppam, Pondicherry - 607 402, India.
Aim: To investigate the phenotypic and genomic features of three multidrug-resistant (MDR) clinical mucoid and non-mucoid uropathogenic Escherichia coli (UPEC) strains to understand their antimicrobial resistance, biofilm formation, and virulence in urinary tract infections (UTIs).
Methods And Results: The UPEC strains A5, A10, and A15 were isolated from two UTI patients. Phenotypic assays included colony morphology, antibiotic susceptibility, motility, and biofilm formation.
Multimed Man Cardiothorac Surg
September 2025
Institute of Chest Surgery, Medanta, Gurugram, India
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant inherited disorder caused by mutation in a tumour suppressor gene, FLCN, leading to skin tumours (fibrofolliculomas), renal tumours and pulmonary cysts. Lung involvement is predominantly observed in 70% of the cases of BHDS, manifesting in the form of recurrent primary spontaneous pneumothorax. This video tutorial showcases the surgical management of recurrent right primary spontaneous pneumothorax in a young adult with a history of multiple episodes of bilateral pneumothorax managed by surgical intervention previously.
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