MET exon 14 skipping mutation
Pronunciation: MET EK-son fourteen SKIP-ing myu-TAY-shun
A genetic alteration affecting the MET gene that results in increased protein stability and tumor growth, targetable with MET inhibitors.
Full Definition
MET exon 14 skipping mutations occur in approximately 3-4% of lung adenocarcinomas and represent an important targetable oncogenic driver. This mutation results from alterations in splice sites that lead to skipping of exon 14 during mRNA processing, which removes the juxtamembrane domain containing the Cbl binding site. This leads to increased MET protein stability and constitutive activation of downstream signaling pathways. Patients with tumors harboring this mutation can be treated with MET inhibitors such as capmatinib or tepotinib, which have shown significant clinical activity in this molecular subset.
Usage
Usage note: May be abbreviated as METex14 in some contexts but spell out fully in formal documents.
In Context
- "The patient's tumor demonstrated a MET exon 14 skipping mutation, making them eligible for capmatinib therapy." — Molecular tumor board presentation
- "RNA sequencing confirmed MET exon 14 skipping with concurrent loss of the juxtamembrane domain." — Genomic testing report