RET and neuroendocrine tumors
RET and neuroendocrine tumors
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DOI：
10.1007/s11102-006-0263-4
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发表时间：
2006-10
期刊：
影响因子：
3.8
通讯作者：
Y. Murakumo;M. Jijiwa;N. Asai;M. Ichihara;Masahide Takahashi
中科院分区：
文献类型：
--
作者：
Y. Murakumo;M. Jijiwa;N. Asai;M. Ichihara;Masahide Takahashi
etproto癌基因编码一种受体酪氨酸激酶，酪氨酸激酶是神经胶质细胞系来源的神经营养因子家族配体激活的信号通路的主要组成部分。基因靶向研究表明，通过RET信号传导在神经元和肾脏器官发生中起着至关重要的作用。众所周知，生殖系基因突变可导致人类遗传性疾病，如2型多发性内分泌瘤（MEN 2）和巨结肠病，而染色体重排可导致甲状腺乳头状癌。由于对MEN 2发展的分子机制的理解取得了显著进展，与retstatus相关的MEN 2管理正在达成共识，目前已被普遍用作指南。本文综述了RET从实验室到临床的研究进展，重点介绍了神经内分泌肿瘤的病理生理。
TheRETproto-oncogene encodes a receptor tyrosine kinase that is a main component of the signaling pathway activated by the glial cell line-derived neurotrophic factor family ligands. Gene targeting studies revealed that signaling through RET plays a crucial role in neuronal and renal organogenesis. It is well-known that germline mutations inRETlead to the human inherited diseases, multiple endocrine neoplasia type 2 (MEN 2) and Hirschsprung’s disease, and that somatic rearrangements ofRETcause papillary thyroid carcinoma. Due to marked advances in understanding of the molecular mechanisms of the development of MEN 2, a consensus on MEN 2 management associated withRETstatus is being reached and currently put into general use as a guideline. In this review, we summarize progress in the study of RET from bench to bedside, focusing on pathophysiology of neuroendocrine tumors.