国际口腔医学杂志 ›› 2018, Vol. 45 ›› Issue (1): 36-41.doi: 10.7518/gjkq.2018.01.007

• 综述 • 上一篇    下一篇

多发性内分泌腺瘤病2型的研究进展

张梅华1, 胡颖2, 孙正3   

  1. 1.内蒙古医科大学第四附属医院口腔科 包头 014030
    2.首都医科大学附属北京口腔医院·口腔医学院研究所 北京 100050
    3.首都医科大学附属北京口腔医院·口腔医学院黏膜科 北京 100050
  • 收稿日期:2017-04-07 修回日期:2017-10-12 出版日期:2018-01-01 发布日期:2018-01-01
  • 通讯作者: 孙正,教授,博士,Email:sunzheng12@vip.126.com
  • 作者简介:张梅华,副主任医师,博士,Email:zhangmhmm@163.com

Research progress on multiple endocrine neoplasia type 2

Zhang Meihua1, Hu Ying2, Sun Zheng3   

  1. 1. Dept. of Stomatology, The Fourth Affiliated Hospital of Inner Mongolia Medical University, Baotou 014030, China
    2. Institute of Dental Research, Beijing Stomatological Hospital & School of Stomatology, Capital Medical University, Beijing 100050, China
    3. Dept. of Oral Medicine, Beijing Stomatological Hospital & School of Stomatology, Capital Medical University, Beijing 100050, China
  • Received:2017-04-07 Revised:2017-10-12 Online:2018-01-01 Published:2018-01-01

摘要:

多发性内分泌腺瘤病2型(MEN2)是罕见的常染色体显性遗传病,分为3个亚型:MEN2A、MEN2B及家族性甲状腺髓样癌。主要临床表现是甲状腺髓样癌、嗜铬细胞瘤、甲状旁腺功能亢进、先天性巨结肠及骨骼面部发育异常、口腔黏膜多发性神经纤维瘤等。其中MEN2B患者甲状腺髓样癌发病早、转移率高,并因特殊面容及多发性口腔黏膜神经瘤常首诊于口腔科。MEN2为10号染色体上RET原癌基因突变所导致。目前研究认为,基因型与甲状腺髓样癌发生时间和恶性程度相关,临床可根据基因型制定手术时间及计划。MEN2不同基因突变型引起了RET基本活性的转变,进而引起细胞内外信号通路的变化。本文对MEN2的临床表现、分子学基础、RET基因结构与功能的改变机制及MEN2的诊断与治疗等方面进行综述。

关键词: 多发性内分泌腺瘤病2型, 甲状腺髓样癌, 嗜铬细胞瘤, 马方体征, 多发性黏膜纤维瘤

Abstract:

Multiple endocrine neoplasia type 2 (MEN2) is a rare autosomal dominant disease. This condition can be classified into three types, including MEN2A, MEN2B, and familial medullary thyroid carcinoma (MTC). Primary clinical manifestations of this type of neoplasia include the following: MTC, pheochromocytoma, hyperparathyroidism, Hirschsprung’s disease, bone and facial dysplasia, and multiple nerve fibroma of oral mucosa. MTC contributes mainly to early morbidity and high metastasis rate. Patients with MEN2B are prompted to consult with a dentist primarily due to occurrence of multiple mucosa neuroma. Missense mutations in RET gene result in MEN2. RET is located on chromosome 10. Mutations in genotypes of RET genes correlate with phenotype mutations, including age of onset and degree of malignancy. Clinical experiments determined operation time and plan according to genotype. Gene mutations induces changes in RET gene activities, resulting in changes in intra and extracellular signaling pathways. This paper summarizes research progress on clinical and molecular basis, mechanism of RET gene structure and function changes, and MEN2 diagnosis and treatments.

Key words: multiple endocrine neoplasia type 2, medullary thyroid carcinoma, pheochromocytoma, Marfan signs, multiple mucosa neuroma

中图分类号: 

  • R739.8
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