Hereditary medullary thyroid carcinoma (MTC) is mainly caused by germline mutations in the RET\nproto-oncogene, which accounts for 20â??30% of all MTC according to foreign studies. However, no English\nliteratures have reported Chinese hereditary MTC. Here, we reported two Chinese brothers with MTC that caused by\ngermline RET mutation.\nCase presentation: The younger brother was diagnosed with MTC at 29 years ago and suffered recurrence more\nthan 10 years. For elder brother, the diagnosis of MTC was made by postoperative pathological examination at age\n61. Both patients received total thyroidectomy and lymph node dissection. Since they had a significant family\nhistory for MTC, genetic detection was performed and identified a germline mutation in RET exon 10 (p.C620Y). This\nmutation was also detected in their offspring, indicating a moderate risk of MTC.\nConclusions: This is the first report presenting a Chinese family with hereditary MTC caused by the RET p.C620Y\nvariant. This case series emphasize the importance of genetic detection of RET proto-oncogene for MTC patients,\nand bring out managements for individuals after detection of RET mutations.
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