A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene / 대한내분비학회지
Journal of Korean Society of Endocrinology
;
: 375-380, 2005.
Article
in Korean
| WPRIM
| ID: wpr-124043
ABSTRACT
A medullary thyroid carcinoma, a neoplasm of parafollicular C cell origin, occurs as a sporadic or hereditary disease. A hereditary medullary thyroid carcinoma is an autosomal dominantly inherited disease, which is composed of multiple endocrine neoplasia 2A and 2B, with a familial medullary thyroid carcinoma. Germline mutations of the RET gene are the underlying cause of the majority of hereditary medullary carcinomas. Here, the case of a 42 years-old man with a familial medullary thyroid carcinoma, confirmed by the detection of a RET proto-oncogene mutation at exon 13 on codon 768 from a GAG(Glu) to a GAT(Asp), is described. The patient underwent a total thyroidectomy and modified radical neck dissection. His sister was found to have the same mutant gene.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Neck Dissection
/
Thyroid Gland
/
Thyroidectomy
/
Proto-Oncogenes
/
Codon
/
Multiple Endocrine Neoplasia
/
Thyroid Neoplasms
/
Exons
/
Germ-Line Mutation
/
Carcinoma, Medullary
Limits:
Adult
/
Humans
Language:
Korean
Journal:
Journal of Korean Society of Endocrinology
Year:
2005
Type:
Article
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