[Multiple endocrine neoplasia type 2].
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.
Sheu
S-Y
SY
Institut für Pathologie und Neuropathologie, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen.
Schmid
K W
KW
D000310:Adrenal Gland Neoplasms / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D005190:Family; D005838:Genotype; D018095:Germ-Line Mutation; D006627:Hirschsprung Disease / Q000453:epidemiology / Q000209:etiology / Q000473:pathology; D006801:Humans; D006980:Hyperthyroidism / Q000453:epidemiology / Q000209:etiology / Q000473:pathology; D018813:Multiple Endocrine Neoplasia Type 2a / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010673:Pheochromocytoma / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D018570:Risk Assessment; D013964:Thyroid Neoplasms / Q000235:genetics
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret