A Case of Medullary Thyroid Carcinoma with de novo V804M RET Germline Mutation.
10.3346/jkms.2013.28.1.156
- Author:
Young Sik CHOI
1
;
Hye Jung KWON
;
Bu Kyung KIM
;
Su Kyoung KWON
;
Yo Han PARK
;
Jeong Hoon KIM
;
Sang Bong JUNG
;
Chang Hoon LEE
;
Seong Keun LEE
;
Shinya UCHINO
Author Information
1. Department of Internal Medicine, Kosin University College of Medicine, Busan, Korea. yschoi@kosinmed.or.kr
- Publication Type:Case Reports
- Keywords:
Medullary Thyroid Carcinoma;
RET Proto-oncogene;
V804M RET Germline Mutation
- MeSH:
Adult;
Calcitonin/blood;
Germ-Line Mutation;
Humans;
Male;
Pedigree;
Proto-Oncogene Proteins c-ret/*genetics;
Sequence Analysis, DNA;
Thyroid Neoplasms/*diagnosis/genetics/ultrasonography;
Thyroidectomy
- From:Journal of Korean Medical Science
2013;28(1):156-159
- CountryRepublic of Korea
- Language:English
-
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.
