Abstract: Diagnosis and treatment of familial medullary thyroid carcinoma        YIN De-tao, DU Gong-bo. Department of Thyroid Surgery, the First Affiliated Hospital of Zhengzhou University；Key Discipline Laboratory of Clinical Medicine of Henan Province, Zhengzhou 450052, China
Corresponding author: YIN De-tao, E-mail：detaoyin@zzu.edu.cn
Abstract    Familial medullary thyroid carcinoma（FMTC）is an important type of medullary thyroid carcinoma（MTC）with a high degree of malignancy.It has the tendency of early invasion of regional lymph nodes and distant metastasis，and the prognosis is relatively poor with the trend of increasing incidence. Significant progresses in clinical studies of FMTC have been obtained recently. Diagnostic methods such as serum calcitonin test and gene test provide more accurate preoperative evaluation and recurrence monitoring. In the early stages of the disease radical surgery still dominated. According to the results of genetic testing，prophylactic thyroidectomy and molecular targeted therapy have been developed and applied rapidly.The combination of traditional surgery and new treatment methods further improves the therapeutic effect of FMTC.

Key words: familial medullary thyroid cancer, calcitonin, gene test, surgery, molecular targeted therapy

摘要： 家族性甲状腺髓样癌（FMTC）作为甲状腺髓样癌（MTC）的一个重要分型，恶性程度较高，具有早期侵犯区域淋巴结和远处转移的倾向，预后相对较差，且有发病率不断增高的趋势。近年来关于FMTC临床的诊断和治疗进展较多，血清降钙素水平检测、基因检测等诊断方法提供了更精准的术前评估与复发监测的手段；疾病早期，根治性手术治疗仍占FMTC治疗的主要地位。根据基因检测的结果，进行预防性甲状腺切除以及分子靶向治疗也得到了快速的发展和应用，使传统手术与新兴治疗方法相结合，进一步提高了FMTC的治疗效果。

关键词: 家族性甲状腺髓样癌, 降钙素, 基因检测, 外科手术, 分子靶向治疗