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Background: Mesenchymal-epithelial transition () amplification is a crucial oncogenic driver and a resistance mechanism to epidermal growth factor receptor tyrosine kinase inhibitors (TKIs) of non-small-cell lung cancer (NSCLC). Fluorescence hybridization (FISH) is the gold standard for amplification detection. However, it is inapplicable when tissue samples are unavailable.
Objective: This study assessed the performance of plasma droplet digital polymerase chain reaction (ddPCR) in amplification detection in NSCLC patients.
Design And Methods: A total of 87 NSCLC patients were enrolled, and 94 paired tissue and plasma samples were analyzed for the concordance between FISH and plasma ddPCR/tissue next-generation sequencing (NGS) in detecting amplification. In addition, the efficacy of patients with amplification using different detection methods who were treated with MET-TKIs was evaluated.
Results: Plasma ddPCR showed substantial concordance with FISH (74.1% sensitivity, 92.5% specificity, and 87.2% accuracy with a kappa value of 0.68) and outperformed tissue NGS (kappa value of 0.64) in amplification detection. Combined plasma ddPCR and tissue NGS showed substantial concordance with FISH (92.3% sensitivity, 89.2% specificity, and an accuracy of 90.1% with a kappa value of 0.77). The efficacy is comparable in these NSCLC patients with amplification detected by FISH and plasma ddPCR who were treated with MET-TKIs.
Conclusion: Plasma ddPCR is a potentially reliable method for detecting amplification in advanced NSCLC patients. Combined plasma ddPCR and tissue NGS might be an alternative or complementary method to amplification detection.
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http://dx.doi.org/10.1177/17588359241229435 | DOI Listing |
Sci Rep
September 2025
Department of Biochemistry and Immunology, Vejle Hospital, University Hospital of Southern Denmark, Vejle, Denmark.
Biomarkers are increasingly used in cancer management, including lung cancer. The use of circulating tumour DNA (ctDNA) detection has attracted significant interest as a non-invasive, highly specific, and sensitive strategy. In this study, we developed and validated a methylation-specific droplet digital PCR (ddPCR) multiplex assay with five tumour-specific methylation markers identified by in silico analysis for lung cancer detection across various clinical settings.
View Article and Find Full Text PDFPathogens
August 2025
Infectious Disease Center, Guangzhou Eighth People's Hospital, Guangzhou Medical University, Guangzhou 510440, China.
Talaromycosis caused by is a life-threatening mycosis in patients with acquired immunodeficiency syndrome (AIDS). The gold-standard diagnostic method relies on time-consuming cultures, which delay treatment and increase mortality. In this study, we developed a rapid and sensitive droplet digital PCR (ddPCR) assay targeting the internal transcribed spacer (ITS) gene for detecting and compared its performance with blood culture and quantitative PCR (qPCR) assays.
View Article and Find Full Text PDFJ Clin Microbiol
August 2025
Division of Clinical Microbiology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Unlabelled: Human papillomavirus (HPV) is comprised of >200 genotypes and has an ~8 kb, circular, double-stranded DNA genome. Transmission of HPV occurs through skin-to-skin contact and infection of squamous epithelial cells of cutaneous and mucosal surfaces. HPV genotypes are categorized as low- or high-risk (hrHPV) based on oncogenic potential.
View Article and Find Full Text PDFMol Diagn Ther
August 2025
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Background And Objective: Human papillomavirus (HPV) is the cause of most cervical cancers and is released as circulating cell-free tumour HPV DNA (ctHPV DNA) into circulation. Earlier studies have indicated that ctHPV DNA is a promising biomarker for analysing treatment response and for recurrence surveillance. However, factors influencing the release of ctHPV DNA, including HPV type and HPV viral load, have not been extensively studied and additional biomarkers for prognosis are needed.
View Article and Find Full Text PDFPrenat Diagn
August 2025
Institut Universitaire de Recherche Clinique, Montpellier, Occitanie, France.
Objective: To report the incidental detection of maternal somatic mosaicism during the development of exclusion-based non-invasive prenatal diagnosis for monogenic disorders (NIPD-MD) initially indicated for apparently de novo pathogenic or likely pathogenic variants.
Method: A droplet digital PCR (ddPCR)-based exclusion NIPD_MD assay was developed for four couples, each with a prior pregnancy affected by a rare autosomal dominant or X-linked condition due to a de novo pathogenic or likely pathogenic variant. Assays were designed to detect fetal-specific variants in maternal plasma, with validation performed on parental and proband samples.