Etiqueta: JMolDiagn
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Validation of NTRK Fusion Detection Using an Ultrarapid, Fully Automated Cartridge-based PCR Assay
NTRK gene fusions are rare but actionable oncogenic drivers, and their timely detection is critical for guiding TRK-targeted therapy. Conventional methods such as immunohistochemistry, fluorescence in situ hybridization, reverse transcription polymeras…
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Endonuclease-Assisted Selective Exponential Amplification (ESEA) for Ultra-Sensitive Enrichment and Detection of Low-abundance Mutant Alleles in Lung Cancer
Lung cancer is one of the most prevalent and lethal malignancies worldwide. Despite recent advancements in precision medicine, early detection and therapeutic monitoring of lung cancer remain challenging. Here, we present an Endonuclease-Assisted Selec…
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Clinical validation of the Roche cobas and cobas 4800 HPV tests on self-collected vaginal dry swabs vs practitioner-collected cervical specimens using the VALHUDES Protocol
The first national HPV-based cervical screening programs began in 2017. Since then, a growing list of countries have moved, or want to move, to HPV-based screening. One of the benefits of HPV-based screening is that a sample does not need to be collect…
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Validation of NTRK Fusion Detection Using an Ultrarapid, Fully Automated Cartridge-based PCR Assay
NTRK gene fusions are rare but actionable oncogenic drivers, and their timely detection is critical for guiding TRK-targeted therapy. Conventional methods such as immunohistochemistry, fluorescence in situ hybridization, reverse transcription polymeras…
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Long-Read Nanopore Sequencing Enhances BRCA1/2 Variant Detection Compared to Ion Torrent Analysis
Accurate detection of BRCA1 and BRCA2 variants is essential for breast cancer diagnosis. However, the large size of these genes poses challenges for comprehensive analysis using short-read sequencing, which is generally limited to coding regions and ma…
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Genetic Landscape of Acute Leukemia of Ambiguous Lineage
Acute leukemias of ambiguous lineage (ALALs) are rare acute leukemias with poor prognosis, encompassing acute undifferentiated leukemia and mixed-phenotype acute leukemia. The fifth edition of the World Health Organization classification of hematolymph…
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Pitfalls in Detecting MET Exon 14 Skipping Variants by DNA- and RNA-Based Next-Generation Sequencing Technologies in a Large Real-World Cohort and Results of the First Multinational External Quality Assessment Schemes
MET exon 14 skipping mutations in non–small-cell lung cancer are important biomarkers for targeted therapy, making accurate detection essential. This study analyzed 379 non–small-cell lung cancers with mutations in MET exon 14 and adjacent splice sites…
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Pitfalls in Detecting MET Exon 14 Skipping Variants by DNA- and RNA-Based Next-Generation Sequencing Technologies in a Large Real-World Cohort and Results of the First Multinational External Quality Assessment Schemes
MET exon 14 skipping mutations in non–small-cell lung cancer are important biomarkers for targeted therapy, making accurate detection essential. This study analyzed 379 non–small-cell lung cancers with mutations in MET exon 14 and adjacent splice sites…