Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant inherited tumor syndrome caused by RET proto-oncogene germline mutations (RET). Here we tested the Conformation Sensitive Gel Electrophoresis (CSGE) as a screening method for RET hot-spot mutations. Seven MEN2 families were studied by direct sequencing analysis, CSGE and Single Strand Conformational Polymorphism (SSCP). Using CSGE/SSCP, we were able to detect four out of five types of RET mutations verified by sequencing analysis: Cys620Arg, Cys634Arg, Cys634Tyr, and Met918Thr, furthermore a missense […]

Multiple endocrine neoplasia type 2 (MEN-2) is an inherited tumor syndrome that includes medullary thyroid carcinoma (MTC), primary hyperparathyroidism, pheochromocytoma and other non-endocrine diseases. Since the first RET missense mutations in association with MEN-2 were identified, RET mutation analysis had a great impact in the clinical management of MEN-2, such as in early diagnosis and treatment of MTC. Presently, early total thyroidectomy provides real cure of MTC for cases in which molecular diagnosis has been performed at early ages. After […]

We present the experience of Hospital das Clínicas, FMUSP, with the clinical, biochemical and topographic diagnosis of pheochromocytoma, as well as the therapeutic approaches. Although new biochemical tests, as plasma metanephrines determination, have greater sensibility in the diagnosis of this tumor, more feasible tests, such as urinary metanephrines and urinary and plasma catecholamines, still have important diagnostic value. Eventual false-negative and false-positive results can be identified with stimulation and suppression tests and drug withdrawal. Magnetic resonance imaging has the greatest […]