Hidden Pitfalls in MET Exon 14 Testing

Large cohort study examines limitations of DNA- and RNA-based sequencing in routine diagnostics

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A study identified limitations in detecting MET exon 14 skipping variants in non-small cell lung cancer due to assay design and bioinformatics.
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Tissue testing showed high performance in MET exon 14 testing, while liquid biopsy analysis had lower accuracy and higher false-negative rates.
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Researchers analyzed 379 NSCLC samples and found 171 distinct MET exon 14 and splice-site variants, highlighting the complexity of testing.
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RNA testing confirmed exon 14 skipping in 107 of 114 variants, revealing pitfalls in DNA-based testing that missed large deletions.
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The study suggests that combining DNA- and RNA-based testing may reduce missed clinically relevant variants and emphasizes assay validation.

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