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Case Report: A Lung Adenocarcinoma With Brain Metastasis Harbored Novel MET 14 Skipping Alteration Sensitive to Savolitinib
oleh: Jian Li, Yun Feng, Yuan Tan, Yuan Tan, Yuan Tan, Qianqian Duan, Qianqian Duan, Qianqian Duan, Qin Zhang, Qin Zhang, Qin Zhang
Format: | Article |
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Diterbitkan: | Frontiers Media S.A. 2022-04-01 |
Deskripsi
A splice-site mutation that results in a loss of transcription of exon 14 in the oncogenic driver MET occurs in 3 to 4% of patients with non-small-cell lung cancer (NSCLC). Several MET exon 14 skipping alterations have been identified, but different MET exon splice variants tend to have different clinical outcomes which deserve concern. Herein, based on NGS panel analysis, we firstly described a 61-year-old woman with lung adenocarcinoma who harbored a novel MET exon 14 skipping (c.3004_3028+3del) concurrent MET amplification (copy number: 3.91) and benefited from Savolitinib treatment. Moreover, CytoTest MET/CCP7 FISH Probe (c-MET/CCP7 Ratio:1.41 and mean gene copy number:6) and qPCR which based on ABI 7500 also were performed to confirm these two MET alterations. After 2 months of Savolitinib treatment, the clinical evaluation was a partial response (PR). In summary, our finding not only expanded the spectrum of the MET exon14 variant (METex14). Targeted NGS analysis could improve detection of MET alterations in routine practice.