RET M918T

RET M918T是髓质甲状腺癌(MTC)中最常见的躯体获得性突变。虽然目前还没有RET特异性抑制剂,但混杂激酶抑制剂在治疗RET过度活性方面取得了一些成功。然而,数据表明M918T突变可能导致耐药性,尤其是对血管内皮生长因子抑制剂莫特沙尼的耐药性。也有人认为RET M918T导致更具侵袭性的MTC,预后较差。
RET M918T is the most common somatically acquired mutation in medullary thyroid cancer (MTC). While there currently are no RET-specific inhibiting agents, promiscuous kinase inhibitors have seen some success in treating RET overactivity. Data suggests however, that the M918T mutation may lead to drug resistance, especially against the VEGFR-inhibitor motesanib. It has also been suggested that RET M819T leads to more aggressive MTC with a poorer prognosis.

别名

MET918THR,RS74799832
Allele Registry ID:CA009082
ClinVar ID:13919

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
104361741643617416TC
Transcript
ENST00000355710.3

基因序列

NM_020975.4:c.2753T>003eC
NP_065681.1:p.Met918Thr
ENST00000355710.3:c.2753T>003eC
NC_000010.10:g.43617416T>003eC