Rastreamento gênico da neoplasia endócrina múltipla tipo 2: experiência da Unidade de Endocrinologia Genética da USP

Abstract

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 RET mutation identification, family members should be screened for this mutation by using methods as DGGE, SSCP, restriction enzyme, genetic sequencing or mini-sequencing. In this paper, we briefly review our experience with the direct RET gene sequencing and DGGE approaches. In 50 typical MEN-2 patients analyzed using both methods, we found no false results suggesting that DGGE is a reliable screening method for RET proto-oncogene mutation analysis.

p27 variant and corticotropinoma susceptibility: a genetic and in vitro study

“…After surgery, tumors were confirmed through pathological criteria and immunostaining for endocrinespecific antibodies. We should mention that all cases with MTC included in the study were examined for the presence of mutations in the hot-spot exons of the RET proto-oncogene (exons 10, 11, and 13-16), and none were found (Santos et al 2006, Toledo et al 2010b. TMEM127 and RET mutations were ruled out in the 51 cases with pheochromocytomas as previously described (Yao et al 2010).…”

Síndromes Paraneoplásicas – O que o Cirurgião-Dentista Precisa Saber?

“…A síndrome Men IIB (multiple endocrine neoplasia ou neoplasia endocrina multipla) apresenta múltiplos neuromas em pele e mucosa, mucosas papulares, principalmente em lábios, orofaringe e conjuntiva. A neoplasia endócrina múltipla tipo-2 (NEM-2) é herdada por genes autossômicos dominantes e compreende um grupo de doenças, tais como carcinoma medular de tireóide familiar (CMT-F), neoplasia endócrina múltipla tipo-2A (NEM-2A), que apresenta CMT associado à feocromocitoma (FEO) e hiperparatireoidismo primário (HPT), e NEM, tipo-2B (NEM-2B), onde ocorrem CMT, FEO e gânglio-neuromatose de mucosas 10 . Em 1993, foi identificado o proto-oncogene RET como gene responsável pela NEM 2.…”