Milan S A, Sosa J A, Roman S A
Department of Surgery, Yale University School of Medicine, New Haven, CT 06520, USA.
Minerva Chir. 2010 Feb;65(1):27-37.
Medullary thyroid carcinoma (MTC) is an uncommon malignancy of the parafollicular C cells of the thyroid, with a propensity for early lymph node spread and distant metastasis. It is hereditary in approximately 25% of cases, involving specific point mutations of the RET proto-oncogene inherited in an autosomal dominant fashion. While European professional organizations have put forth calcitonin screening guidelines for earlier detection of MTC, the American Thyroid Association, which has published recent guidelines for MTC treatment, have not had a position on routine screening in the USA. Surgical extirpation of the primary tumor and involved lymph node metastases is the mainstay of treatment and the only chance for cure. Conventional systemic chemotherapies for metastatic MTC have been disappointing; however, newer agents which affect specific RET proteins and tyrosine kinase growth factor receptors show promise in phase 1 and 2 clinical trials.
甲状腺髓样癌（MTC）是一种罕见的甲状腺滤泡旁C细胞恶性肿瘤，易于早期发生淋巴结转移和远处转移。约25%的病例具有遗传性，涉及以常染色体显性方式遗传的RET原癌基因的特定点突变。虽然欧洲专业组织已提出降钙素筛查指南以更早发现MTC，但近期发布了MTC治疗指南的美国甲状腺协会在美国常规筛查方面尚无立场。手术切除原发性肿瘤及受累淋巴结转移灶是主要治疗方法，也是治愈的唯一机会。转移性MTC的传统全身化疗效果不佳；然而，影响特定RET蛋白和酪氨酸激酶生长因子受体的新型药物在1期和2期临床试验中显示出前景。
