Estudio del protooncogen RET en neoplasia endocrina multiple 2A y en carcinoma medular de tiroides familiar. Hallazgos clinico-patologicos en portadores asintomaticos / Study of RET protooncogene in multiple endocrine neoplasm 2A and in familial medullary thyroid carcinoma. Clinical pathological findings in asymptomatic carriers
Medicina [B.Aires]
; 63(1): 41-45, 2003. tab
Artigo
em Espanhol
| BINACIS
| ID: bin-6608
Biblioteca responsável:
BR1.1
ABSTRACT
Twenty five percent of the medullary thyroid carcinoma (MTC) is hereditary and 5% is familiar (FMTC), or considered as multiple endocrine neoplasia (MEN) type 2A (17%) or 2B (3%). These diseases are the result of the autosomic dominant inheritance of a mutation in the RET protooncogene, in one out of 12 different known codons. We analyzed 7 families (2 MEN 2A and 5 FMTC). Six mutations were detected in the most frequent codon, 634 (2 MEN 2A y 4 FMTC) and one family with FMTC presented a novel mutation a transition T > C at codon 630, resulting a C630A change. Among 57 individuals studied, 25 (43.85%) presented the mutation. Seven (28%) were asymptomatic carriers, including 5 children aged 11 +/- 3.2 years. The children underwent total thyroidectomy. The histopathologic examination showed C cells hyperplasia and microcarcinoma focus in both lobes, even in the presence of normal, basal or pentagastrine stimulated, calcitonine levels. In conclusion, we describe a germine novel mutation in the RET protooncogene C630A; and the corresponding findings of C-cell disease in gene mutated carriers that emphasize the importance of prophylactic thyroidectomy as soon as the molecular diagnosis is confirmed (AU)
Texto completo:
Disponível
Coleções:
Bases de dados nacionais
/
Argentina
Base de dados:
BINACIS
Assunto principal:
Proto-Oncogenes
/
Neoplasias da Glândula Tireoide
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Proteínas Proto-Oncogênicas
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Carcinoma Medular
/
Neoplasia Endócrina Múltipla Tipo 2a
Tipo de estudo:
Estudo diagnóstico
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
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Feminino
/
Humanos
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Masculino
Idioma:
Espanhol
Revista:
Medicina [B.Aires]
Ano de publicação:
2003
Tipo de documento:
Artigo
Instituição/País de afiliação:
Hospital de San Isidro/Argentina
/
Instituto Alexander Fleming/Argentina
/
Universidad de Buenos Aires/Argentina