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.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Thyroidectomy
/
Proto-Oncogenes
/
DNA
/
Multiple Endocrine Neoplasia
/
Thyroid Neoplasms
/
Cause of Death
/
Multiple Endocrine Neoplasia Type 2b
/
Ganglioneuroma
/
Neoplasm Metastasis
Type of study:
Diagnostic study
/
Screening study
Limits:
Child
/
Humans
Language:
English
Journal:
Journal of Korean Society of Pediatric Endocrinology
Year:
2006
Type:
Article
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