Leboulleux Sophie, Baudin Eric, Travagli Jean-Paul, Schlumberger Martin
Institut Gustave Roussy, Villejuif, France.
Clin Endocrinol (Oxf). 2004 Sep;61(3):299-310. doi: 10.1111/j.1365-2265.2004.02037.x.
Medullary thyroid carcinoma (MTC) arises from parafollicular or C cells that produce calcitonin (CT), and accounts for 5-10% of all thyroid cancers. MTC is hereditary in about 25% of cases. The discovery of a MTC in a patient has several implications: disease extent should be evaluated, phaeochromocytoma and hyperparathyroidism should be screened for and whether the MTC is sporadic or hereditary should be determined by a direct analysis of the RET proto-oncogene. In this review, pathological characteristics, tumour markers and genetic abnormalities in MTC are discussed. The diagnostic and therapeutic modalities applied to patients with clinical MTC and those identified with preclinical disease through familial screening are also described. Progresses concerning genetics, initial treatment, follow-up, screening and treatment of pheochromocytoma have permitted an improvement in the long-term outcome. However, there is no effective treatment for distant metastases, and new therapeutic modalities are urgently needed.
甲状腺髓样癌（MTC）起源于产生降钙素（CT）的滤泡旁细胞或C细胞，占所有甲状腺癌的5%-10%。约25%的病例中MTC具有遗传性。在患者中发现MTC有几个意义：应评估疾病范围，筛查嗜铬细胞瘤和甲状旁腺功能亢进，并且应通过对RET原癌基因的直接分析来确定MTC是散发性还是遗传性。在本综述中，讨论了MTC的病理特征、肿瘤标志物和基因异常。还描述了应用于临床MTC患者以及通过家族筛查发现的临床前疾病患者的诊断和治疗方式。在遗传学、初始治疗、随访、筛查以及嗜铬细胞瘤治疗方面取得的进展已使长期预后得到改善。然而，对于远处转移尚无有效治疗方法，迫切需要新的治疗方式。
