家族性甲状腺非髓样癌临床特点

Features of familial nonmedullary thyroid carcinoma

家族性甲状腺非髓样癌指家族一级亲属中有2人或2人以上患有甲状腺非髓样癌,并排除其它已知的家族遗传性肿瘤综合征（如Gardner综合征、Cowden病、Carney联合体、Werner综合征等）和共同的甲状腺癌危险因素暴露史,危险因素包括颈部辐射和碘缺乏等.虽然一些研究已经发现了几个遗传异质性较高的易感基因位点,但是家族性甲状腺非髓样癌在基因水平的发病机制尚未完全明确.大多数研究表明,与散发病例相比,家族性甲状腺非髓样癌具有发病年龄早、多病灶、易腺体外侵犯、淋巴结转移率高、复发率高、生存率低等特点.

Familial nonmedullary thyroid carcinoma means to two or more first-degree relatives of the family with NMTC,in the absence of other known family syndromes （such as Gardner＇s syndrome,Cowden disease,Carney complex,Werner syndrome,and so on）,and common thyroid cancer risk factors including the neck radiation and iodine deficiency,and so on.The genes involved in the pathogenesis of familial nonmedullary thyroid carcinoma （FNMTC） are yet to be elucidated,although some recent studies identified several predisposition loci with a high degree of genetic heterogeneity.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.