A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation.
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.
Department of Internal Medicine, Kosin University College of Medicine, Busan, Korea. yschoi@kosinmed.or.kr
Young Sik
YS
Choi
Hye Jung
HJ
Kwon
Bu Kyung
BK
Kim
Su Kyoung
SK
Kwon
Yo Han
YH
Park
Jeong Hoon
JH
Kim
Sang Bong
SB
Jung
Chang Hoon
CH
Lee
Seong Keun
SK
Lee
Shinya
S
Uchino
D000328:Adult; D002116:Calcitonin / Q000097:blood; D018278:Carcinoma, Neuroendocrine; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D010375:Pedigree; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D013965:Thyroidectomy; D014463:Ultrasonography
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D002116:Calcitonin; D051096:Proto-Oncogene Proteins c-ret
Medullary Thyroid Carcinoma; RET Proto-oncogene; V804M RET Germline Mutation