[Multiple endocrine neoplasia type 2].
The term multiple endocrine neoplasia (MEN) was introduced by Steiner et al. in 1968 to describe disorders that include a combination of endocrine tumors. The Wermer syndrome was designed as MEN 1 and the Sipple syndrome as MEN 2. Sizemore et al. (1974) completed that the MEN 2 category included 2 subgroups: patients with medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid disease and a normal appearance (MEN 2A) and other without parathyroid disease but with mucosal neuromas and mesodermal abnormalities (MEN 2B). MTC is usually the first tumor diagnosed. The diagnosis of MTC has several implications: disease extent should be evaluated, pheochromocytoma and hyperparathyroidism should be screened and whether the MTC is sporadic or hereditary should be determined by a direct analysis of the RET proto-oncogene. Here, the pathological characteristics, genetic abnormalities, and clinical features of MEN 2 are discussed. The diagnostic and therapeutic approaches used to patients with clinical disease and carriers identified through familiar screening are also described. Progresses related especially to genetic screening and earlier intervention have permitted an improvement in the long-term outcome. However, treatment for disseminated disease is still ineffective.
Maia
Ana Luiza
AL
Serviço de Endocrinologia, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS. almaia@ufrgs.br
Gross
Jorge Luiz
JL
Puñales
Marcia Khaled
MK
D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D006961:Hyperparathyroidism / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000032:analysis; D013577:Syndrome; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret