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)
; Medicina (B.Aires);63(1): 41-45, 2003. tab
Article
em Es
| LILACS
| ID: lil-334545
Biblioteca responsável:
BR1.1
RESUMEN
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
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Proto-Oncogenes
/
Neoplasias da Glândula Tireoide
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Proteínas Proto-Oncogênicas
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Carcinoma Medular
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Neoplasia Endócrina Múltipla Tipo 2a
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
Es
Ano de publicação:
2003
Tipo de documento:
Article