Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular / Multiple endocrine neoplasia: a clinical model for testing molecular genetic techniques
Rev. méd. Chile
;
128(7): 791-800, jul. 2000. tab, graf
Article
in Spanish
| LILACS
| ID: lil-270892
RESUMO
Multiple endocrine neoplasias (MEN) are syndromes inherited as autosomal dominant. The application of the techniques of molecular biology has made possible the identification of the genes causing MEN 1 and 2. The gene responsable for MEN 1 belongs to the family of tumor suppressor genes and encodes for a protein named MENIN whose function remains to be elucidated. The identification of mutant MEN 1 gene carriers who are at risk of developing this syndrome requires frequent biochemical screening for the development of endocrine tumors. MEN 2 is a consequence of mutations in the Ret proto- oncogene (c-Ret). This gene encodes for a tyrosine kinase receptor thought to play a role in the development of neural crest- derived tissue. Members of kindred with either MEN 2A or MEN 2B should be screened by direct DNA testing early in life for mutations in c-Ret. Those with the mutation should be advised to have thyroidectomy at five years of age in children with MEN 2A and earlier in children with MEN 2B . Some cases of sporadic MTC are actually MEN 2A or Familial MTC after c-Ret testing is done, therefore routine application of this test is recommended in all cases of apparent sporadic MTC
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Multiple Endocrine Neoplasia
/
Genetic Techniques
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Humans
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2000
Type:
Article
/
Project document
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