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...

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Detalles Bibliográficos
Autores principales: Choi, Young Sik, Kwon, Hye Jung, Kim, Bu Kyung, Kwon, Su Kyoung, Park, Yo Han, Kim, Jeong Hoon, Jung, Sang Bong, Lee, Chang Hoon, Lee, Seong Keun, Uchino, Shinya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3546095/
https://www.ncbi.nlm.nih.gov/pubmed/23341727
http://dx.doi.org/10.3346/jkms.2013.28.1.156
Descripción
Sumario: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.

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