A Case of Medullary Thyroid Carcinoma with de novo V804M RET Germline Mutation
A Case of Medullary Thyroid Carcinoma with de novo V804M RET Germline Mutation
최영식(고신대학교); 권혜정(고신대학교); 김부경(고신대학교); 권수경(고신대학교); 박요한(고신대학교); 김정훈(고신대학교); 정상봉(고신대학교); 이창훈(I Saem Thyroid Clinic); 이성근(고신대학교); Shinya Uchino(Noguchi Thyroid Clinic)
28권 1호, 156~159쪽
초록
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.
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.
- 발행기관:
- 대한의학회
- 분류:
- 의학일반