A Case of Multiple Endocrine Neoplasia Type 2B early Diagnosis by RET Proto-oncogene Analysis and Prophylactic Total Thyroidectomy / 대한소아내분비학회지
Journal of Korean Society of Pediatric Endocrinology
;
: 104-109, 2006.
Artigo
em Inglês
| WPRIM
| ID: wpr-224223
ABSTRACT
Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal-dominant hereditary syndrome which includes medullary thyroid carcinoma (MTC), pheochoromocytoma, multiple ganglioneuromas, gastrointestinal disorders and marfanoid face. MTC is the main cause of death in patients that have not received early and prophylactic treatment. Clinically useful direct DNA tests have recently been available to identify gene carriers before any clinical or biochemical abnormalities are present. Prophylactic total thyroidectomy is recommended to affected children at an early stage of the disease to prevent the development of metastases of MTC. We report a case of MEN 2B patient who was diagnosed by RET proto-oncogene analysis and performed prophylactic total thyroidectomy.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Tireoidectomia
/
Proto-Oncogenes
/
DNA
/
Neoplasia Endócrina Múltipla
/
Neoplasias da Glândula Tireoide
/
Causas de Morte
/
Neoplasia Endócrina Múltipla Tipo 2b
/
Ganglioneuroma
/
Metástase Neoplásica
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Criança
/
Humanos
Idioma:
Inglês
Revista:
Journal of Korean Society of Pediatric Endocrinology
Ano de publicação:
2006
Tipo de documento:
Artigo
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