Multiple endocrine neoplasia: the Chilean experience
Clinics
; 67(supl.1): 7-11, 2012. tab
Artigo
em Inglês
| LILACS
| ID: lil-623124
Biblioteca responsável:
BR1.1
ABSTRACT
Multiple endocrine neoplasia (MEN) types 1 and 2 are genetic diseases that are inherited as autosomal traits. The major clinical manifestations of multiple endocrine neoplasia type 1 include the so-called "3 P's" parathyroid, pituitary, and pancreatic tumors, including gastroenteroneuroendocrine tumors. Genetic testing can be performed on patients and the potential carriers of the menin gene mutation, but the genotype-phenotype correlation in multiple endocrine neoplasia type 1 is less straightforward than multiple endocrine neoplasia type 2. Most likely, the main advantage of genetic testing in MEN1 is to exclude from further studies those who are negative for the genetic mutation if they belong to a family with a known history of MEN1. In Chile, we started with rearranged during transfection proto-oncogene genetic testing (MEN2) 15 years ago. We carried out a prophylactic total thyroidectomy to prevent medullary thyroid carcinoma in a three-year-old girl who presented with microscopic medullary thyroid carcinoma. More than 90% of the individuals who tested positive using a genetic test achieved a biochemical cure compared with only 27% of patients who receive a clinical diagnosis. Mutations are mainly located in exon 11; the most common is C634W, rather than C634R. Hypertensive crisis was the cause of death in three patients, and extensive distant metastases occurred in nine (including two patients with multiple endocrine neoplasia type 2B) of 14 patients. Earlier recognition of medullary thyroid carcinoma and the other features of the disease, especially pheochromocytoma, will improve the survival rate of patients with multiple endocrine neoplasia.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Contexto em Saúde:
Agenda de Saúde Sustentável para as Américas
/
ODS3 - Saúde e Bem-Estar
/
ODS3 - Meta 3.4 Reduzir as mortes prematuras devido doenças não transmissíveis
Problema de saúde:
Objetivo 9: Redução de doenças não transmissíveis
/
Meta 3.4: Reduzir as mortes prematuras devido doenças não transmissíveis
/
Doenças do Sistema Endócrino
/
Outras Neoplasias Malignas
/
Neoplasia da Tireoide
Base de dados:
LILACS
Assunto principal:
Neoplasias da Glândula Tireoide
/
Carcinoma Medular
/
Neoplasia Endócrina Múltipla Tipo 1
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
País/Região como assunto:
América do Sul
/
Chile
Idioma:
Inglês
Revista:
Clinics
Assunto da revista:
Medicina
Ano de publicação:
2012
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Universidad de Chile/CL