摘要
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 inRET gene result in MEN2.RET is located on chromosome 10. Mutations in genotypes ofRET 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 inRET gene activities, resulting in changes in intra and extracellular signaling pathways. This paper summarizes research progress on clinical and molecular basis, mechanism ofRET gene structure and function changes, and MEN2 diagnosis and treatments.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Key words
multiple endocrine neoplasia type 2/medullary thyroid carcinoma/pheochromocytoma/Marfan signs/multiple mucosa neuroma分类
医药卫生
