[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 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.
Santos
Marcelo A C G dos
MA
Unidade de Endocrinologia Genética, Clínica Médica, Faculdade de Medicina, Universidade de São Paulo, SP.
Nunes
Adriana Bezerra
AB
Abelin
Neusa
N
Ezabella
Marilza C L
MC
Toledo
Rodrigo de Almeida
Rde A
Lourenço
Delmar
D M
Hayashida
Cesar Yoiti
CY
Fonseca
Ivone Izabel M da
II
Toledo
Sergio P de Almeida
SP
D000465:Algorithms; D018276:Carcinoma, Medullary / Q000175:diagnosis* / Q000235:genetics; D005819:Genetic Markers; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008969:Molecular Sequence Data; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics
D005819:Genetic Markers; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human