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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。
With the discovery of the association of different clinical symptoms of multiple endocrine neoplasia type 2 (MEN 2) with different mutations in the RET proto-oncogene and the application of more tumor-targeting drugs in clinical trials, the MEN 2 early diagnosis and drug treatment possible. Molecular targeted drugs such as Vandetanib and Carbozantinib can have some effect on critically ill MEN 2 inoperable. This article describes the routine testing and genetic diagnosis of MEN 2, future research directions in the treatment of MEN 2, and the possibility of applying knowledge of the PI3K / Akt / m TOR signaling pathway and CRISPR / TALEN-Cas9 to nonsurgical treatment of MEN 2 , As well as effectively prevent the birth of sick fetuses through prenatal diagnosis and preimplantation genetic diagnosis.