一例伴有新发 V804M RET 种系突变的甲状腺髓样癌。
A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation.
机构信息
Department of Internal Medicine, Kosin University College of Medicine, Busan, Korea.
出版信息
J Korean Med Sci. 2013 Jan;28(1):156-9. doi: 10.3346/jkms.2013.28.1.156. Epub 2013 Jan 8.
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.
摘要
韩国已报道了许多遗传性髓样甲状腺癌（MTC）的 RET 原癌基因突变病例。然而，韩国尚未报道过 V804M RET 原癌基因突变的 MTC。一名 33 岁男性被诊断出患有 0.7 厘米大小的甲状腺结节。实验室检测显示降钙素升高。患者因甲状腺肿瘤接受了甲状腺全切除术和中央区颈部清扫术。对该患者及其家族进行了 RET 基因分析。除该患者外，其家族中无 V804M RET 突变和异常的实验室发现。因此，该患者为新发的 V804M RET 种系突变。
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