MET EXON 14 SKIPPING MUTATION

在大约3%的NSCLC患者中观察到了外显子14突变(Awad等人J Clin Onc 2016报道了28/933),证实在可行时可引起外显子跳跃,并与同时发生的MET扩增有关。临床前模型和个别病例报告以及小规模临床试验(17名接受治疗的患者,Drilon等人,2016年(Suppl;Abdr 108;Asco ID 167889-176))中均报告了对c-met抑制剂crizotinib的反应。需要进行更大的研究,但鼓励在使用Met抑制剂或非标记治疗的试验中注册Met外显子14突变的患者(Paik等人,2015年(Supp;Abdr 8021))。
Exon 14 mutations have been observed in ~3% of patients with NSCLC (28/933 reported by Awad et al J Clin Onc 2016), confirmed to cause exon skipping when available, and associated with concurrent MET amplification. Responses to the c-MET inhibitor crizotinib have been reported in preclinical models and in individual case reports as well as a small-scale clinical trial (17 patients treated, Drilon et al., 2016 (suppl; abstr 108; ASCO ID 167889-176)). Larger studies are needed but enrollment of patients with MET exon 14 skipping mutation in trials with MET inhibitors or off-label treatment is encouraged (Paik et al., 2015 (suppl; abstr 8021)).

别名


Allele Registry ID:
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突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
7116411903116412043
Transcript
ENST00000318493.6

基因序列