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.
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Authors | Susana Belli, María E Storani, Ricardo J Dourisboure, Ernesto J Podestá, Angela R Solano |
Journal | Medicina
(Medicina (B Aires))
Vol. 63
Issue 1
Pg. 41-5
( 2003)
ISSN: 0025-7680 [Print] Argentina |
Vernacular Title | Estudio del protooncogen RET en neoplasia endocrina multiple 2A y en carcinoma medular de tiroides familiar. Hallazgos clínico-patológicos en portadores asintomáticos. |
PMID | 12673960
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Drosophila Proteins
- Proto-Oncogene Proteins
- Calcitonin
- Proto-Oncogene Proteins c-ret
- Receptor Protein-Tyrosine Kinases
- Ret protein, Drosophila
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Topics |
- Adolescent
- Adult
- Calcitonin
(analysis)
- Carcinoma, Medullary
(genetics)
- Child
- Child, Preschool
- Drosophila Proteins
- Female
- Humans
- Male
- Middle Aged
- Multiple Endocrine Neoplasia Type 2a
(genetics)
- Mutation
- Pedigree
- Phenotype
- Proto-Oncogene Proteins
(genetics)
- Proto-Oncogene Proteins c-ret
- Proto-Oncogenes
- Receptor Protein-Tyrosine Kinases
(genetics)
- Thyroid Neoplasms
(genetics)
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