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[Study of RET protooncogene in multiple endocrine neoplasm 2A and in familial medullary thyroid carcinoma. Clinical pathological findings in asymptomatic carriers].

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.
AuthorsSusana Belli, María E Storani, Ricardo J Dourisboure, Ernesto J Podestá, Angela R Solano
JournalMedicina (Medicina (B Aires)) Vol. 63 Issue 1 Pg. 41-5 ( 2003) ISSN: 0025-7680 [Print] Argentina
Vernacular TitleEstudio del protooncogen RET en neoplasia endocrina multiple 2A y en carcinoma medular de tiroides familiar. Hallazgos clínico-patológicos en portadores asintomáticos.
PMID12673960 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Drosophila Proteins
  • Proto-Oncogene Proteins
  • Calcitonin
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases
  • Ret protein, Drosophila
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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