Sheu S-Y, Schmid K W
Institut für Pathologie und Neuropathologie, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen.
Pathologe. 2010 Oct;31(6):449-54. doi: 10.1007/s00292-010-1389-8.
Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant inherited cancer syndrome with the major components medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. Due to the clinical course three distinct subtypes are distinguished, MEN 2A, MEN 2B and familial medullary thyroid carcinoma. The disease is caused by germ-line mutations of the RET proto-oncogene and the localization of these mutations correlates with the onset of the development of medullary thyroid carcinoma, which is crucial for the clinical course and outcome of the disease. It therefore has a substantial influence on the clinical management of the affected patients and their relatives. This review summarizes the morphology and clinic of MEN 2-associated tumors and their respective precursor lesions.
2型多发性内分泌腺瘤病(MEN 2)是一种常染色体显性遗传癌症综合征,主要包括甲状腺髓样癌、嗜铬细胞瘤和甲状旁腺功能亢进。根据临床病程可分为三种不同的亚型:MEN 2A、MEN 2B和家族性甲状腺髓样癌。该疾病由RET原癌基因的种系突变引起,这些突变的定位与甲状腺髓样癌的发病相关,这对疾病的临床病程和预后至关重要。因此,它对受影响患者及其亲属的临床管理有重大影响。本综述总结了MEN 2相关肿瘤及其各自前驱病变的形态学和临床情况。