RET原癌基因与肿瘤相关性研究的进展现状

doi:10.19586/j.2095-2341.2021.0048

生物技术进展 ›› 2022, Vol. 12 ›› Issue (1): 57-62.DOI: 10.19586/j.2095-2341.2021.0048

RET原癌基因与肿瘤相关性研究的进展现状

肖金平(), 李程, 曹云娣, 孙志坚, 康平, 兰晓梅()

浙江科途医学科技有限公司，浙江湖州 313000

收稿日期:2021-04-13 接受日期:2021-06-21 出版日期:2022-01-25 发布日期:2022-01-26
通讯作者: 兰晓梅
作者简介:肖金平 E-mail:1558086557@qq.com;
基金资助:
湖州市攻关计划工业项目(2020C22262)

Research Progress on the Relationship Between RET Protooncogene and Tumor

Jinping XIAO(), Cheng LI, Yundi CAO, Zhijian SUN, Ping KANG, Xiaomei LAN()

Zhejiang Ketu Medical Technology Co. ，Ltd. ，Zhejiang Huzhou 313000，China

Received:2021-04-13 Accepted:2021-06-21 Online:2022-01-25 Published:2022-01-26
Contact: Xiaomei LAN

摘要/Abstract

摘要：

RET原癌基因是一种重要的癌症驱动基因，与人类多种肿瘤的发生、发展密切相关。RET相关肿瘤的发病机制包括RET基因激活性点突变与RET基因融合突变。近年来，针对致癌性RET基因融合突变开发的精准靶向药物取得了突破性进展。综述了RET原癌基因与肿瘤发生、发展相关性研究及近年来临床诊疗方面的研究进展，旨在为RET基因突变癌症患者的精准化诊疗提供参考，并通过精准高效地抑制RET基因突变，提高疾病缓解率和控制率。

关键词: RET, 融合基因, 基因突变, 靶向治疗

Abstract:

The RET proto-oncogene is an important cancer driver gene， which is closely related to the occurrence and development of a variety of human tumors. The pathogenesis of RET related tumors includes RET gene activation point mutation and RET gene fusion mutation. In recent years， breakthrough progress has been made in the development of precision targeted drugs for carcinogenic RET gene fusion mutation. In this paper， the research progress of RET related pathogenesis， diagnosis and drug development in recent years were reviewed to provide reference for the accurate diagnosis and treatment of cancer patients with RET gene mutation， and improve the disease remission rate and disease control rate by accurately and efficiently inhibiting RET gene mutation.

Key words: RET, fusion gene, gene mutation, targeted therapy

中图分类号:

R730.2

肖金平, 李程, 曹云娣, 孙志坚, 康平, 兰晓梅. RET原癌基因与肿瘤相关性研究的进展现状[J]. 生物技术进展, 2022, 12(1): 57-62.

Jinping XIAO, Cheng LI, Yundi CAO, Zhijian SUN, Ping KANG, Xiaomei LAN. Research Progress on the Relationship Between RET Protooncogene and Tumor[J]. Current Biotechnology, 2022, 12(1): 57-62.

图/表 4

参考文献 33

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肿瘤类型	主要突变形式	突变频率
乳头状甲状腺癌	融合突变	20%~30%
散发性甲状腺髓样癌	点突变（密码子918、634）	30%~50%
慢性粒细胞白血病	融合突变	—
遗传性甲状腺髓样癌	点突变（外显子10、11、16）	≈100%
非小细胞肺癌	融合突变	1%~2%
嗜铬细胞瘤/副神经节瘤	点突变	3%~6%

肿瘤类型	主要突变形式	突变频率
乳头状甲状腺癌	融合突变	20%~30%
散发性甲状腺髓样癌	点突变（密码子918、634）	30%~50%
慢性粒细胞白血病	融合突变	—
遗传性甲状腺髓样癌	点突变（外显子10、11、16）	≈100%
非小细胞肺癌	融合突变	1%~2%
嗜铬细胞瘤/副神经节瘤	点突变	3%~6%

项目	IHC	FISH	RT⁃PCR	NGS
特异性	☆	☆	☆☆☆☆	☆☆☆
费用	☆	☆☆☆☆	☆☆☆	☆☆☆☆
发现的融合类型	已知、未知	已知、未知	已知	已知、未知
检测对象	蛋白	DNA	RNA	DNA、RNA

项目	IHC	FISH	RT⁃PCR	NGS
特异性	☆	☆	☆☆☆☆	☆☆☆
费用	☆	☆☆☆☆	☆☆☆	☆☆☆☆
发现的融合类型	已知、未知	已知、未知	已知	已知、未知
检测对象	蛋白	DNA	RNA	DNA、RNA

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RET原癌基因与肿瘤相关性研究的进展现状

Research Progress on the Relationship Between RET Protooncogene and Tumor

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