A Noncanonical MET Exon 14 Splice-Site Variant in Pulmonary Sarcomatoid Carcinoma With Response to Capmatinib.

Authors

Hyung-Joo Oh, Yoo-Duk Choi, Yoon-La Choi, Ha-Young Park, Joon-Young Yoon, Jang-Hyeon Kim, Jung-Hwan Lim, Cheol-Kyu Park, In-Jae Oh, Young-Chul Kim

Published in

Thoracic cancer. Volume 17. Issue 15. Pages e70371.

Abstract

MET exon 14 skipping is an actionable oncogenic driver in non-small cell lung carcinoma (NSCLC); however, noncanonical splice-region variants are frequently classified as variants of unknown significance (VUS), which may result in missed therapeutic opportunities and highlight limitations in current DNA next-generation sequencing (NGS) reporting criteria. We report a patient with pulmonary sarcomatoid carcinoma harboring a noncanonical MET splice donor-proximal indel (c.3022_3028 + 13delinsA), initially interpreted as a VUS, who achieved a rapid and durable response to capmatinib. Subsequent RNA sequencing and droplet digital PCR (ddPCR) confirmed MET exon 14 skipping, supporting the value of orthogonal transcript-level validation for exon-adjacent variants.

PMID:
42568042
Bibliographic data and abstract were imported from PubMed on 08 Aug 2026.

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