摘要
随着2型多发性内分泌腺瘤(multiple endocrine neoplasia type 2,MEN 2)不同临床症状与RET原癌基因不同突变型相关研究的发现,以及更多的肿瘤靶向药物运用于临床试验,使得MEN 2的早期确诊和药物治疗成为可能。对于无法实施手术的重症MEN 2患者,Vandetanib和Carbozantinib等分子靶向药物可以起到一定的疗效。本文介绍了MEN 2的常规检测与遗传学诊断,未来MEN 2的治疗研究方向,将PI3K/Akt/m TOR信号通路和CRISPR/TALEN-Cas9等知识运用到MEN 2的非手术治疗中的可能性,以及通过产前诊断和植入前遗传学诊断有效避免患病胎儿的出生。
The mutants in the RET proto-oncogene closely related with the clinical phenotypes of multiple endocrine neoplasia type 2 （MEN 2 ） and more targeted cancer drugs are using in clinical trials, making it possible to realize early diagnosis and non- surgical treatment of MEN 2. For those severe patients who could not be implemented MEN 2 surgery, Vandetanib, Carbozantinib and other molecular targeted drugs can be provided. This review presents the routine testing and genetic diagnosis of MEN 2, and the future management possibility based on PI3K/Akt/mTOR signaling pathway and CRISPR/TALEN-Cas9, as well as practical prenatal diagnosis and preimplantation genetic diagnosis that can effectively avoid the birth of sick fetus.
出处
《中国优生与遗传杂志》
2015年第1期128-132,共5页
Chinese Journal of Birth Health & Heredity
基金
2014年浙江省级公益性技术应用研究计划项目(2014C33183)
