Loh K C
Department of Medicine, University of California at San Francisco 94143, USA.
Thyroid. 1997 Feb;7(1):107-13. doi: 10.1089/thy.1997.7.107.
Familial occurrence of nonmedullary thyroid carcinoma is extremely rare but this has been increasingly recognized over the recent years. Earlier reports of such occurrence were primarily confined to individuals with previous radiation exposure, history of familial adenomatous polyposis (Gardner's syndrome) or multiple hamartomas (Cowden's syndrome), or monozygotic twins. The author reviews 15 case reports/series of familial nonmedullary thyroid carcinoma available in the literature involving kindreds with no obvious associated pathogenetic factors as mentioned above. There were a total of 87 kindreds with 178 affected individuals available for analysis, with a male to female ratio of 1:2.2. The modal age group at diagnosis was 30-39 years in both gender groups. Papillary thyroid carcinoma constituted 91% of the cases, followed by follicular (6%) and anaplastic (2%) varieties. There was one case (0.5%) each of combined papillary and medullary thyroid carcinoma and Hurthle cell carcinoma, respectively. Six of the 15 series observed that patients with familial history generally have more aggressive tumour characteristics compared to the sporadic counterparts. The incidences of multifocality, local invasion, and distant metastases at diagnosis were 49, 32, and 5%, respectively. The incidences of locoregional recurrence, distant metastases, and deaths were 29, 10, and 5.4%, respectively, at a mean follow-up period of 11 years. The actual prognostic outcome of familial nonmedullary thyroid carcinoma is still unclear in view of the limited clinical data. Although several authors have advocated an aggressive approach in managing these patients, no conclusion can be reached on the basis of this review to support this position. The author recommends that patients with familial disease should be treated according to the disease stage and other risk factors, similar to those with spontaneously occurring well-differentiated papillary or follicular thyroid carcinomas. In addition, one might consider and perform follow-up of first-degree relatives with similar degree of caution as patients who have undergone head and neck irradiation in childhood.
非髓样甲状腺癌的家族性发病极为罕见，但近年来这种情况越来越受到认可。早期关于此类发病的报道主要局限于曾有辐射暴露史、家族性腺瘤性息肉病（加德纳综合征）或多发性错构瘤（考登综合征）病史的个体，或同卵双胞胎。作者回顾了文献中15篇关于家族性非髓样甲状腺癌的病例报告/系列研究，这些家族中没有上述明显相关的致病因素。共有87个家族的178名患者可供分析，男女比例为1:2.2。两个性别组的诊断中位年龄均为30 - 39岁。乳头状甲状腺癌占病例的91%，其次是滤泡状癌（6%）和未分化癌（2%）。分别有1例（0.5%）合并乳头状和髓样甲状腺癌以及许特莱细胞癌。15个系列研究中有6个观察到，与散发性患者相比，有家族史的患者通常具有更具侵袭性的肿瘤特征。诊断时多灶性、局部侵犯和远处转移的发生率分别为49%、32%和5%。在平均11年的随访期内，局部区域复发、远处转移和死亡的发生率分别为29%、10%和5.4%。鉴于临床数据有限，家族性非髓样甲状腺癌的实际预后结果仍不明确。尽管几位作者主张对这些患者采取积极的治疗方法，但基于本综述无法得出支持这一立场的结论。作者建议，患有家族性疾病的患者应根据疾病分期和其他风险因素进行治疗，这与散发性高分化乳头状或滤泡状甲状腺癌患者类似。此外，对于一级亲属，可能应考虑并以与童年时期接受过头颈部放疗的患者相同程度的谨慎态度进行随访。
