A Case of Medullary Thyroid Carcinoma with de novo V804M RET Germline Mutation
Journal of Korean Medical Science
;
: 156-159, 2013.
Article
in English
| WPRIM
| ID: wpr-86387
ABSTRACT
Many cases of RET proto-oncogene mutations of hereditary medullary thyroid carcinoma (MTC) have been reported in Korea. However, MTC with V804M RET proto-oncogene germline mutations have not been reported in Korea. A 33-yr-old man was diagnosed with a 0.7-cm sized thyroid nodule. Laboratory testing revealed serum calcitonin was elevated. The patient underwent total thyroidectomy with central compartment neck dissection for the thyroid tumor. RET gene analysis was performed in both the index patient and his family. There were no V804M RET mutation and abnormal laboratory findings within his family except the index patient. Therefore, this patient was a de novo V804M RET germline mutation.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Thyroidectomy
/
Calcitonin
/
Thyroid Neoplasms
/
Sequence Analysis, DNA
/
Germ-Line Mutation
/
Proto-Oncogene Proteins c-ret
Limits:
Adult
/
Humans
/
Male
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2013
Type:
Article
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