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.

doi:10.1016/j.jmoldx.2026.05.007

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Article

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.

The Journal of molecular diagnostics : JMD - 1 Aug 2026

Heydt Carina, Ihle Michaela A, Ilm Katharina, Rehker Jan, Poon Peony, Siemanowski-Hrach Janna, Pappesch Roberto, Wagener-Ryczek Svenja, Jonas Christoph, Fassunke Jana, Riedel Richard, Schultheis Anne M, Buettner Reinhard, Merkelbach-Bruse Sabine, Siebolts Udo

Abstract excerpt

MET exon 14 skipping mutations in non-small-cell lung cancer (NSCLC) are important biomarkers for targeted therapy, making accurate detection essential. This study analyzed 379 NSCLCs with mutations in MET exon 14 and adjacent splice sites using DNA- and RNA-based next-generation sequencing (NGS). The 379 samples contained 171 distinct mutations around MET exon 14, highlighting the diversity; 114 mutations were...

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PMID: 42248549
DOI: 10.1016/j.jmoldx.2026.05.007
PMCID: PMC13494073

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