甲状腺髓样癌的临诊应对

Approach to the patients with medullary thyroid cancer

甲状腺髓样癌是甲状腺滤泡旁C细胞来源的肿瘤，以分泌降钙素为特征，其中20％-25％为家族遗传性，与其他类型的甲状腺恶性肿瘤相比，具有发病年龄较轻，易复发、易转移、预后较差的特点。RET基因突变在临床表型和基因型问有着良好的相关性。本文详细介绍1例遗传性甲状腺髓样癌的诊治和术后随访情况以及患者及家系成员RET基因筛查结果，以使临床医生重视甲状腺髓样癌的诊治。

Medullary thyroid cancer （MTC） is characterized by the secretion of calcitonin that is derived from parafollicular cells. 20%-25% of MTC are hereditary. Compared with other types of thyroid cancer, MTC is prone to recurrence, metastasis , and younger onset age. RET gene germline mutation accounts for the hereditary MTC, and somatic mutation is responsible for part of sporadic cases. A good correlation between phenotype and genotype is reported. We present in this article a case of medullary thyroid cancer patient with genetic diagnosis and treatment as well as postoperative follow-up together with RET gene screening results in her family members in order to call attention to the diagnosis and treatment of MTC.