Mazeh Haggi, Sippel Rebecca S
1 Section of Endocrine Surgery, Department of Surgery, University of Wisconsin , Madison, Wisconsin.
Thyroid. 2013 Sep;23(9):1049-56. doi: 10.1089/thy.2013.0079. Epub 2013 Aug 3.
Nonmedullary thyroid cancers (NMTC) originate from the follicular cells of the thyroid gland and account for over 90% of all thyroid cancers. About 3-10% of the NMTCs are of familial origin, and familial NMTC (FNMTC) is defined as two or more affected first-degree relatives with NMTC in the absence of other known familial syndromes.
The genes involved in the pathogenesis of FNMTC are yet to be elucidated, although some recent studies identified several predisposition loci with a high degree of genetic heterogeneity. To date, several studies have evaluated the aggressive tumor characteristics associated with FNMTC with conflicting results. Several studies demonstrated that patients with FNMTC have increased rates of multifocal disease, extrathyroidal invasion, and involved lymph nodes compared with sporadic disease. It has been hypothesized that this increased aggressiveness translates into higher recurrence rates and decreased survival of patients with FNMTC.
This review highlights clinical aspects and management dilemmas as well as controversial issues in FNMTC. Management recommendations are deduced.
非髓样甲状腺癌（NMTC）起源于甲状腺滤泡细胞，占所有甲状腺癌的90%以上。约3% - 10%的NMTC为家族性起源，家族性NMTC（FNMTC）定义为在无其他已知家族综合征的情况下，有两名或更多受影响的一级亲属患有NMTC。
尽管最近的一些研究确定了几个具有高度遗传异质性的易感基因座，但参与FNMTC发病机制的基因尚未阐明。迄今为止，多项研究评估了与FNMTC相关的侵袭性肿瘤特征，结果相互矛盾。几项研究表明，与散发性疾病相比，FNMTC患者多灶性疾病、甲状腺外侵犯及淋巴结受累的发生率更高。据推测，这种增加的侵袭性会导致FNMTC患者的复发率更高和生存率降低。
本综述强调了FNMTC的临床方面、管理困境以及有争议的问题，并得出了管理建议。
