中文摘要：

甲状腺髓样癌（medullarythyroidcarcinoma，MTC）是起源于甲状腺C细胞或滤泡旁细胞的恶性肿瘤，分遗传型髓样癌和散发型髓样癌两种。MTC主要由RET原癌基因突变引起，对患者进行基因测序分析能在基因水平诊断MTC，从而为患者早期行预防性手术治疗提供依据，从甲状腺髓样癌临床分型、分子遗传基础及动物模型不同层面进行综述．有利于进一步了解疾病致病机制和开展药物实验性治疗研究。

英文摘要：

Medullary thyroid carcinoma （MTC） is a malignancy that originates from parafollicular C cells of the thyroid gland, which is divided into two types, including hereditary and sporadic forms. MTC is mainly caused by germline mutations in the RET proto-oncogene. The direct gene sequencing analysis for patients can diagnose MTC at gene level, thereby providing the basis for early preventive surgery treatment. Different angles including the clinical types, basic of molecular genetics and animal models of medullary thyroid car- cinoma are reviewed, which will contribute to further understanding the pathogenic mechanism and would help to carry out drug experimental treatments of this disease.