外显子
外显子跳跃
肺癌
癌症研究
靶向治疗
RNA剪接
腺癌
酪氨酸激酶
突变
选择性拼接
生物
医学
生物信息学
遗传学
基因
癌症
肿瘤科
信号转导
核糖核酸
作者
Minke Shi,Jing Ma,Meilin Feng,Lei Liang,Hongyuan Chen,Tao Wang,Zhenghua Xie
标识
DOI:10.1016/j.cancergen.2021.04.005
摘要
MET exon 14 skipping (METex14) is a validated oncogenic driver in lung cancer and MET tyrosine kinase inhibitors are now available as effective clinical treatments. The majority of known METex14 alterations are typical donor/acceptor splicing or ubiquitination site mutations. Herein, two new METex14 variants were detected in two patients with lung adenocarcinoma by targeted next generation sequencing (NGS). Reverse transcription (RT)-based analysis confirmed that these mutations led to MET exon 14 skipping. Our analysis provided evidence for possible targeted therapy options for patients carrying these MET mutations or similar METex14 analogs.
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