Genetic screening of multiple endocrine neoplasia type 2: experience of the USP Endocrine Genetics Unit

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 a...

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Bibliographic Details
Published in:Arquivos brasileiros de endocrinologia e metabologia 2006-02, Vol.50 (1), p.7-16
Main Authors: Santos, Marcelo A C G dos, Nunes, Adriana Bezerra, Abelin, Neusa, Ezabella, Marilza C L, Toledo, Rodrigo de Almeida, Lourenço, Jr, Delmar, Hayashida, Cesar Yoiti, Fonseca, Ivone Izabel M da, Toledo, Sergio P de Almeida
Format: Article
Language:Portuguese
Subjects:
Algorithms
Carcinoma, Medullary - diagnosis
Carcinoma, Medullary - genetics
Genetic Markers
Genetic Testing - methods
Humans
Molecular Sequence Data
Multiple Endocrine Neoplasia Type 2a - diagnosis
Multiple Endocrine Neoplasia Type 2a - genetics
Mutation - genetics
Phenotype
Proto-Oncogene Proteins c-ret - genetics
Thyroid Neoplasms - diagnosis
Thyroid Neoplasms - genetics
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Summary: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.
ISSN:0004-2730