Giuffrida D, Gharib H
Division of Endocrinology, Metabolism, Nutrition, and Internal Medicine, Mayo Clinic, Rochester, MN, USA.
Ann Oncol. 1998 Jul;9(7):695-701. doi: 10.1023/a:1008242302749.
Medullary thyroid carcinoma (MTC) originates in the thyroid C cells, accounting for 5% to 10% of all thyroid malignancies. Approximately 75% of cases are sporadic. Significant advances have been made in the molecular biology of MTC, but some aspects of diagnosis and management still remain controversial.
We reviewed relevant articles published in major English-language medical journals. We used the MEDLINE database, selected bibliographies, and articles available in our personal files.
Mutations of the RET proto-oncogene have been identified in the germline DNA of patients with familial MTC syndromes. Genetic testing can identify patients affected by multiple endocrine neoplasia types IIA and IIB and familial MTC, allowing early diagnosis and possible cure. Surgical treatment is total thyroidectomy. Plasma calcitonin measurements are excellent markers for postoperative follow-up. Adjunctive therapy includes radiotherapy and chemotherapy. The overall prognosis is worse than papillary thyroid carcinoma.
Recent advances in genetic testing allow early diagnosis and treatment of familial MTC syndromes. Despite some advances in treatment, optimal management remains controversial.
甲状腺髓样癌（MTC）起源于甲状腺C细胞，占所有甲状腺恶性肿瘤的5%至10%。约75%的病例为散发性。MTC的分子生物学已取得重大进展，但诊断和治疗的某些方面仍存在争议。
我们回顾了主要英文医学期刊上发表的相关文章。我们使用了MEDLINE数据库、选定的参考文献以及我们个人档案中的文章。
在家族性MTC综合征患者的种系DNA中已鉴定出RET原癌基因的突变。基因检测可识别受IIA型和IIB型多发性内分泌腺瘤病以及家族性MTC影响的患者，从而实现早期诊断并可能治愈。手术治疗为全甲状腺切除术。血浆降钙素测量是术后随访的极佳标志物。辅助治疗包括放疗和化疗。总体预后比乳头状甲状腺癌差。
基因检测的最新进展使得家族性MTC综合征能够早期诊断和治疗。尽管治疗方面取得了一些进展，但最佳管理仍存在争议。
